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 A2ML1 0 genome.wustl.edu 37 12 9021138 9021139 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 9021138 9021139 0 G INS A2ML1 ENST00000299698 human ensembl 74_37 +1 known frame_shift_ins c.4067_4068 p.S1358fs 0.989:0.998 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 178 0 0.00 125 11 8.09 AACS 0 genome.wustl.edu 37 12 125621344 125621344 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 125621344 125621344 C T SNP AACS ENST00000316519 human ensembl 74_37 +1 known silent c.1815 p.D605 0.000 tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 tier1 - - 132 0 0.00 89 14 13.59 AADAC 0 genome.wustl.edu 37 3 151545749 151545749 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 151545749 151545749 G A SNP AADAC ENST00000232892 human ensembl 74_37 +1 known missense c.989 p.R330H 0.000 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 tier1 - - 94 0 0.00 59 17 22.37 AARS2 0 genome.wustl.edu 37 6 44272267 44272267 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 44272267 44272267 C - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.1756 p.V586fs 0.717 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 47 0 0.00 30 9 23.08 AARS2 0 genome.wustl.edu 37 6 44278774 44278774 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 44278774 44278774 G - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.706 p.Q236fs 0.995 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 133 0 0.00 111 29 20.71 ABCA13 0 genome.wustl.edu 37 7 48313033 48313033 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 48313033 48313033 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.3770 p.L1257P 0.022 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 35 0 0.00 28 4 12.50 ABCA13 0 genome.wustl.edu 37 7 48319446 48319446 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 48319446 48319446 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.8655 p.C2885 0.002 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 80 0 0.00 61 24 28.24 ABCA13 0 genome.wustl.edu 37 7 48684303 48684303 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 48684303 48684303 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.15034 p.F5012V 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 86 0 0.00 70 8 10.26 ABCA2 0 genome.wustl.edu 37 9 139905931 139905931 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139905931 139905931 A C SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.5727 p.I1909M 0.743 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 26 0 0.00 23 3 11.54 ABCA3 0 genome.wustl.edu 37 16 2367744 2367744 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2367744 2367744 G T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.895 p.L299I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 79 0 0.00 70 22 23.66 ABCA7 0 genome.wustl.edu 37 19 1054088 1054088 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1054088 1054088 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3556 p.A1186T 0.057 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 148 0 0.00 132 33 20.00 ABCB10 0 genome.wustl.edu 37 1 229653865 229653865 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 229653865 229653865 T - DEL ABCB10 ENST00000498158 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ABCB10 HGNC ENSG00000135776 tier1 18 0 0.00 9 7 43.75 ABCB4 0 genome.wustl.edu 37 7 87037390 87037390 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87037390 87037390 A C SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.3242 p.L1081R 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 181 0 0.00 145 9 5.84 ABCB7 0 genome.wustl.edu 37 X 74288920 74288920 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 74288920 74288920 A G SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known silent c.1584 p.G528 0.996 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 tier1 - - 140 0 0.00 92 10 9.80 ABCC10 0 genome.wustl.edu 37 6 43412532 43412532 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43412532 43412532 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.2696 p.R899Q 0.858 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 tier1 rs142010618 - 164 0 0.00 112 34 23.29 ABCC10 0 genome.wustl.edu 37 6 43415452 43415452 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43415452 43415452 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.3736 p.V1246M 0.090 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 tier1 - - 541 0 0.00 377 113 23.06 ABCG1 0 genome.wustl.edu 37 21 43697008 43697008 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43697008 43697008 T C SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.979 p.S327P 0.953 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 175 0 0.00 123 33 21.15 ABCG1 0 genome.wustl.edu 37 21 43710184 43710184 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43710184 43710184 T G SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1723 p.S575A 0.996 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 120 0 0.00 68 28 29.17 ABHD11 0 genome.wustl.edu 37 7 73151664 73151664 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 73151664 73151664 C T SNP ABHD11 ENST00000222800 human ensembl 74_37 -1 known missense c.520 p.V174I 0.000 pfam_AB_hydrolase_1,pfam_PGAP1-like,pfam_Thioesterase pfam_AB_hydrolase_1,pfam_PGAP1-like,pfam_Thioesterase,pfam_Esterase_put,prints_AB_hydrolase_1 - no_errors ABHD11 HGNC ENSG00000106077 tier1 rs142499119 - 101 0 0.00 71 19 21.11 ABHD17A 0 genome.wustl.edu 37 19 1880893 1880893 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1880893 1880893 A G SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known splice_site c.485+2 e2+2 0.000 - - - no_errors ABHD17A HGNC ENSG00000129968 tier1 - - 81 0 0.00 68 23 25.27 ACADVL 0 genome.wustl.edu 37 17 7123931 7123931 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7123931 7123931 G T SNP ACADVL ENST00000356839 human ensembl 74_37 +1 known missense c.213 p.K71N 1.000 NULL pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 tier1 - - 194 0 0.00 134 18 11.84 ACE 0 genome.wustl.edu 37 17 61561777 61561777 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 61561777 61561777 T G SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.1796 p.L599R 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 42 0 0.00 31 2 6.06 ACE2 0 genome.wustl.edu 37 X 15580094 15580094 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 15580094 15580094 G A SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known silent c.2352 p.I784 0.019 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 tier1 - - 107 0 0.00 93 18 16.22 ACKR4 0 genome.wustl.edu 37 3 132320091 132320091 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 132320091 132320091 G A SNP ACKR4 ENST00000249887 human ensembl 74_37 +1 known missense c.850 p.A284T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR4 HGNC ENSG00000129048 tier1 rs139794831 - 218 0 0.00 189 14 6.90 ACMSD 0 genome.wustl.edu 37 2 135621197 135621197 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 135621197 135621197 A G SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.482 p.Y161C 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 tier1 - - 62 0 0.00 35 10 22.22 ACO2 0 genome.wustl.edu 37 22 41923962 41923964 + In_Frame_Del DEL ACA ACA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 41923962 41923964 ACA 0 DEL ACO2 ENST00000216254 human ensembl 74_37 +1 known in_frame_del c.2144_2146 p.N716in_frame_del 1.000:1.000:1.000 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 344 0 0.00 230 16 6.50 ACOT2 0 genome.wustl.edu 37 14 74041708 74041708 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 74041708 74041708 G A SNP ACOT2 ENST00000238651 human ensembl 74_37 +1 known missense c.943 p.V315I 0.008 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 tier1 - - 71 0 0.00 47 23 32.86 ACSS3 0 genome.wustl.edu 37 12 81610701 81610701 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 81610701 81610701 C T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1376 p.A459V 0.995 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 96 0 0.00 60 12 16.67 ACTL7A 0 genome.wustl.edu 37 9 111625720 111625720 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 111625720 111625720 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.1118 p.R373H 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 tier1 - - 102 0 0.00 84 14 14.29 ACTR1A 0 genome.wustl.edu 37 10 104247992 104247992 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 104247992 104247992 T C SNP ACTR1A ENST00000369905 human ensembl 74_37 -1 known missense c.230 p.H77R 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1A HGNC ENSG00000138107 tier1 - - 98 0 0.00 102 19 15.70 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 129 0 0.00 77 45 36.89 ACY3 0 genome.wustl.edu 37 11 67412625 67412625 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67412625 67412625 T C SNP ACY3 ENST00000255082 human ensembl 74_37 -1 known splice_site c.527-2 e4-2 1.000 - - - no_errors ACY3 HGNC ENSG00000132744 tier1 - - 144 0 0.00 104 10 8.77 ADAM10 0 genome.wustl.edu 37 15 59009803 59009803 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 59009803 59009803 A - DEL ADAM10 ENST00000260408 human ensembl 74_37 -1 known frame_shift_del c.179 p.L60fs 1.000 pfam_Peptidase_M12B_N 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 62 0 0.00 54 9 14.29 ADAM17 0 genome.wustl.edu 37 2 9630312 9630313 + Frame_Shift_Del DEL CT CT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 9630312 9630313 CT - DEL ADAM17 ENST00000310823 human ensembl 74_37 -1 known frame_shift_del c.2469_2468 p.E823fs 1.000:1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 53 0 0.00 40 9 18.37 ADAM22 0 genome.wustl.edu 37 7 87797530 87797530 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87797530 87797530 C T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2270 p.A757V 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 38 0 0.00 24 7 22.58 ADAM28 0 genome.wustl.edu 37 8 24167473 24167474 + Frame_Shift_Del DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 24167473 24167474 AA - DEL ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_del c.217_218 p.N75fs 1.000:0.997 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 89 0 0.00 79 9 10.23 ADAMTS10 0 genome.wustl.edu 37 19 8657735 8657735 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 8657735 8657735 C A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.1499 p.W500L 1.000 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 tier1 - - 50 0 0.00 30 7 18.92 ADAMTS14 0 genome.wustl.edu 37 10 72468361 72468361 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 72468361 72468361 C A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.697 p.L233I 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 74 0 0.00 52 7 11.86 ADAMTS15 0 genome.wustl.edu 37 11 130343474 130343474 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 130343474 130343474 G A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.2611 p.G871R 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 tier1 - - 75 0 0.00 52 15 22.39 ADAMTS18 0 genome.wustl.edu 37 16 77353960 77353960 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 77353960 77353960 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2318 p.G773D 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 110 0 0.00 78 13 14.29 ADAMTSL1 0 genome.wustl.edu 37 9 18777151 18777151 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 18777151 18777151 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2924 p.R975K 0.001 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 121 0 0.00 100 18 15.13 ADC 0 genome.wustl.edu 37 1 33560207 33560207 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 33560207 33560207 G A SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.646 p.A216T 1.000 pfam_De-COase2_N pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 tier1 rs144776558 - 138 0 0.00 93 32 25.20 ADCY1 0 genome.wustl.edu 37 7 45614403 45614403 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 45614403 45614403 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.261 p.A87 0.999 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 - - 31 0 0.00 9 6 40.00 ADCY6 0 genome.wustl.edu 37 12 49162414 49162415 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49162414 49162415 - C INS ADCY6 ENST00000307885 human ensembl 74_37 -1 known frame_shift_ins c.3467_3466 p.E1156fs 1.000:1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 tier1 76 0 0.00 45 15 25.00 ADCY8 0 genome.wustl.edu 37 8 131797710 131797710 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 131797710 131797710 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3072 p.E1024 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 67 0 0.00 49 7 12.50 ADCY8 0 genome.wustl.edu 37 8 132002664 132002664 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 132002664 132002664 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1085 p.R362H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 230 0 0.00 196 44 18.26 ADCY9 0 genome.wustl.edu 37 16 4163993 4163993 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 4163993 4163993 A G SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.1451 p.V484A 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 tier1 - - 214 0 0.00 167 46 21.60 ADD1 0 genome.wustl.edu 37 4 2877675 2877675 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 2877675 2877675 C A SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known silent c.33 p.T11 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 tier1 - - 160 0 0.00 156 16 9.30 ADNP 0 genome.wustl.edu 37 20 49509194 49509194 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 49509194 49509194 T G SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.2057 p.H686P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 - - 135 0 0.00 105 11 9.48 ADORA1 0 genome.wustl.edu 37 1 203134422 203134422 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 203134422 203134422 G A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.375 p.A125 0.000 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_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 tier1 - - 90 0 0.00 35 8 18.60 ADORA2A 0 genome.wustl.edu 37 22 24837129 24837129 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 24837129 24837129 G A SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.911 p.R304H 1.000 prints_Adeno_A2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 tier1 rs199666600 - 85 0 0.00 57 13 18.57 ADPRHL2 0 genome.wustl.edu 37 1 36557274 36557274 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36557274 36557274 A C SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.364 p.T122P 0.976 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 tier1 - - 156 0 0.00 99 19 16.10 ADRA1A 0 genome.wustl.edu 37 8 26722436 26722436 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 26722436 26722436 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known silent c.51 p.P17 0.000 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 418 0 0.00 375 49 11.50 AFM 0 genome.wustl.edu 37 4 74347532 74347532 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 74347532 74347532 T - DEL AFM ENST00000226355 human ensembl 74_37 +1 known frame_shift_del c.40 p.L16fs 0.970 pirsf_Serum_albumin/AFP pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 tier1 52 0 0.00 37 7 15.91 AGBL5 0 genome.wustl.edu 37 2 27278919 27278919 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27278919 27278919 C T SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.1278 p.G426 0.279 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 346 0 0.00 239 52 17.87 AGMAT 0 genome.wustl.edu 37 1 15905361 15905361 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 15905361 15905361 C T SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.713 p.R238Q 0.999 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 tier1 - - 36 0 0.00 32 9 21.95 AGRP 0 genome.wustl.edu 37 16 67516576 67516576 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67516576 67516576 T C SNP AGRP ENST00000290953 human ensembl 74_37 -1 known missense c.362 p.K121R 1.000 pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors AGRP HGNC ENSG00000159723 tier1 - - 123 0 0.00 94 17 15.32 AHDC1 0 genome.wustl.edu 37 1 27876706 27876706 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 27876706 27876706 T A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.1921 p.S641C 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 177 0 0.00 163 20 10.93 AHNAK2 0 genome.wustl.edu 37 14 105406513 105406513 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 105406513 105406513 A G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.15275 p.V5092A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 167 0 0.00 105 26 19.85 AIM1L 0 genome.wustl.edu 37 1 26655228 26655228 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26655228 26655228 C - DEL AIM1L ENST00000527815 human ensembl 74_37 -1 known frame_shift_del c.1829 p.G610fs 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 tier1 146 0 0.00 107 15 12.30 AIMP2 0 genome.wustl.edu 37 7 6057602 6057602 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6057602 6057602 A G SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.500 p.K167R 0.990 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 tier1 - - 47 0 0.00 34 4 10.53 AIMP2 0 genome.wustl.edu 37 7 6063241 6063241 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6063241 6063241 A G SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known silent c.882 p.T294 0.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 tier1 - - 86 0 0.00 71 13 15.48 AKAP12 0 genome.wustl.edu 37 6 151673958 151673958 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 151673958 151673958 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.4432 p.D1478N 0.002 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 - - 142 0 0.00 75 28 27.18 AKAP13 0 genome.wustl.edu 37 15 86124320 86124320 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 86124320 86124320 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.3021 p.L1007 0.014 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 78 0 0.00 79 15 15.96 AKAP13 0 genome.wustl.edu 37 15 86284609 86284609 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 86284609 86284609 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.7953 p.Y2651 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 61 0 0.00 33 9 21.43 AKNA 0 genome.wustl.edu 37 9 117120302 117120302 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 117120302 117120302 C T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.2638 p.A880T 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 109 0 0.00 84 17 16.83 AKNA 0 genome.wustl.edu 37 9 117143524 117143524 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 117143524 117143524 C A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.90 p.K30N 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 57 0 0.00 24 5 17.24 AKR1B10 0 genome.wustl.edu 37 7 134221826 134221826 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 134221826 134221826 A G SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known silent c.576 p.T192 0.043 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 tier1 rs28545160 - 34 0 0.00 14 3 17.65 ALAD 0 genome.wustl.edu 37 9 116154591 116154591 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 116154591 116154591 T G SNP ALAD ENST00000482001 human ensembl 74_37 -1 known rna NULL NULL 0.965 - - - no_errors ALAD HGNC ENSG00000148218 tier1 - - 36 0 0.00 36 5 12.20 ALDH18A1 0 genome.wustl.edu 37 10 97402772 97402772 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 97402772 97402772 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.280 p.R94C 0.981 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 - - 53 0 0.00 35 12 25.53 ALDH2 0 genome.wustl.edu 37 12 112229918 112229918 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 112229918 112229918 C A SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known silent c.849 p.T283 0.975 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 tier1 - - 119 0 0.00 80 12 13.04 ALDOA 0 genome.wustl.edu 37 16 30081398 30081398 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30081398 30081398 G A SNP ALDOA ENST00000569798 human ensembl 74_37 +1 novel silent c.1047 p.S349 0.000 NULL pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 tier1 - - 64 0 0.00 40 11 21.57 ALG3 0 genome.wustl.edu 37 3 183966533 183966533 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 183966533 183966533 A G SNP ALG3 ENST00000397676 human ensembl 74_37 -1 known missense c.196 p.Y66H 1.000 pfam_Glycosyltransferase_ALG3 pfam_Glycosyltransferase_ALG3 - no_errors ALG3 HGNC ENSG00000214160 tier1 - - 54 0 0.00 46 13 22.03 ALG6 0 genome.wustl.edu 37 1 63876949 63876950 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 63876949 63876950 - T INS ALG6 ENST00000371108 human ensembl 74_37 +1 known frame_shift_ins c.627_628 p.C211fs 0.957:1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 tier1 118 0 0.00 93 13 12.26 ALLC 0 genome.wustl.edu 37 2 3750034 3750034 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 3750034 3750034 G T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.1057 p.V353F 0.016 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 tier1 - - 35 0 0.00 18 4 18.18 ALOX12 0 genome.wustl.edu 37 17 6903748 6903748 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 6903748 6903748 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.901 p.V301I 0.307 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 183 0 0.00 116 35 23.18 ALS2 0 genome.wustl.edu 37 2 202571652 202571652 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 202571652 202571652 G A SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known silent c.4497 p.R1499 0.106 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 tier1 - - 129 0 0.00 86 29 25.22 ALS2CR11 0 genome.wustl.edu 37 2 202467983 202467983 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 202467983 202467983 T C SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.334 p.I112V 0.350 superfamily_C2_dom superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 86 0 0.00 50 14 21.88 AMDHD1 0 genome.wustl.edu 37 12 96348701 96348702 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 96348701 96348702 CA - DEL AMDHD1 ENST00000266736 human ensembl 74_37 +1 known frame_shift_del c.257_258 p.H89fs 1.000:0.365 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 tier1 81 0 0.00 66 9 12.00 AMDHD2 0 genome.wustl.edu 37 16 2580411 2580411 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2580411 2580411 G A SNP AMDHD2 ENST00000413459 human ensembl 74_37 +1 known missense c.1436 p.R479K 0.000 NULL pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 tier1 - - 56 0 0.00 37 10 21.28 AMELX 0 genome.wustl.edu 37 X 11316742 11316742 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 11316742 11316742 C - DEL AMELX ENST00000380712 human ensembl 74_37 +1 known frame_shift_del c.261 p.P89fs 0.955 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 tier1 242 0 0.00 150 32 17.58 AMOTL2 0 genome.wustl.edu 37 3 134078205 134078205 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 134078205 134078205 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.2024 p.A675V 0.417 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 - - 103 0 0.00 85 12 12.37 AMT 0 genome.wustl.edu 37 3 49457336 49457336 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 49457336 49457336 A - DEL AMT ENST00000480957 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AMT HGNC ENSG00000145020 tier1 28 0 0.00 17 4 19.05 ANAPC11 0 genome.wustl.edu 37 17 79857371 79857371 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 79857371 79857371 T C SNP ANAPC11 ENST00000357385 human ensembl 74_37 +1 known silent c.363 p.L121 0.000 NULL NULL - no_errors ANAPC11 HGNC ENSG00000141552 tier1 - - 66 0 0.00 56 15 21.13 ANK1 0 genome.wustl.edu 37 8 41561642 41561642 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 41561642 41561642 G - DEL ANK1 ENST00000396942 human ensembl 74_37 -1 known frame_shift_del c.2212 p.L738fs 0.876 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 124 0 0.00 102 16 13.56 ANK2 0 genome.wustl.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 114280134 114280135 - G INS ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_ins c.10360_10361 p.T3457fs 0.150:0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 78 0 0.00 75 8 9.64 ANKLE2 0 genome.wustl.edu 37 12 133304629 133304629 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 133304629 133304629 C T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.2604 p.S868 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 tier1 - - 227 0 0.00 195 55 22.00 ANKRD11 0 genome.wustl.edu 37 16 89348343 89348343 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89348343 89348343 T C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4607 p.D1536G 0.947 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 136 0 0.00 101 25 19.84 ANKRD11 0 genome.wustl.edu 37 16 89348687 89348687 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89348687 89348687 T A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4263 p.E1421D 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 134 0 0.00 104 21 16.80 ANKRD11 0 genome.wustl.edu 37 16 89350985 89350985 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89350985 89350985 T A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.1965 p.K655N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 215 0 0.00 184 11 5.64 ANKRD11 0 genome.wustl.edu 37 16 89351279 89351279 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89351279 89351279 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.1671 p.P557 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 91 0 0.00 54 16 22.86 ANKRD13D 0 genome.wustl.edu 37 11 67069220 67069220 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67069220 67069220 C A SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known silent c.1530 p.A510 0.977 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 27 0 0.00 25 2 7.41 ANKRD20A19P 0 genome.wustl.edu 37 13 24515468 24515468 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 24515468 24515468 T - DEL ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 tier1 135 0 0.00 85 18 17.48 ANKRD20A8P 0 genome.wustl.edu 37 2 95481185 95481186 + RNA DEL TT TT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 95481185 95481186 TT - DEL ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.795:0.849 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 tier1 180 0 0.00 134 25 15.72 ANKRD26 0 genome.wustl.edu 37 10 27329038 27329038 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 27329038 27329038 T - DEL ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_del c.2279 p.N760fs 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 46 0 0.00 47 5 9.62 ANKRD40 0 genome.wustl.edu 37 17 48778049 48778049 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48778049 48778049 T C SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known missense c.163 p.N55D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 - no_errors ANKRD40 HGNC ENSG00000154945 tier1 - - 102 0 0.00 83 15 15.31 ANKRD42 0 genome.wustl.edu 37 11 82909605 82909605 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 82909605 82909605 G A SNP ANKRD42 ENST00000393389 human ensembl 74_37 +1 known missense c.143 p.R48H 0.123 superfamily_Ankyrin_rpt-contain_dom,smart_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 - no_errors ANKRD42 HGNC ENSG00000137494 tier1 - - 42 0 0.00 38 11 22.45 ANKRD44 0 genome.wustl.edu 37 2 197872607 197872607 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 197872607 197872607 C T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.1978 p.A660T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 ANKRD44 HGNC ENSG00000065413 tier1 - - 94 0 0.00 92 7 7.07 ANKS1A 0 genome.wustl.edu 37 6 35047321 35047322 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35047321 35047322 - C INS ANKS1A ENST00000360359 human ensembl 74_37 +1 known frame_shift_ins c.2312_2313 p.S774fs 1.000:1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 tier1 79 0 0.00 64 14 17.95 ANO4 0 genome.wustl.edu 37 12 101333221 101333221 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 101333221 101333221 G - DEL ANO4 ENST00000392977 human ensembl 74_37 +1 known frame_shift_del c.289 p.G98fs 0.555 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 91 0 0.00 49 10 16.95 ANTXR1 0 genome.wustl.edu 37 2 69351759 69351759 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 69351759 69351759 T C SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.935 p.I312T 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 tier1 - - 128 0 0.00 79 25 24.04 ANTXR2 0 genome.wustl.edu 37 4 80905985 80905986 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 80905985 80905986 - G INS ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_ins c.1074_1073 p.A359fs 0.994:0.992 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 tier1 14 0 0.00 10 5 33.33 ANXA7 0 genome.wustl.edu 37 10 75160584 75160584 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75160584 75160584 A G SNP ANXA7 ENST00000372919 human ensembl 74_37 -1 known missense c.31 p.Y11H 1.000 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV - no_errors ANXA7 HGNC ENSG00000138279 tier1 - - 82 0 0.00 64 12 15.79 AP1M2 0 genome.wustl.edu 37 19 10694742 10694742 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10694742 10694742 A G SNP AP1M2 ENST00000590923 human ensembl 74_37 -1 known missense c.47 p.L16S 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 15 0 0.00 16 6 27.27 AP1S1 0 genome.wustl.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100802404 100802405 - G INS AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_ins c.356_357 p.D122fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 tier1 51 0 0.00 48 6 11.11 AP2A2 0 genome.wustl.edu 37 11 994244 994244 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 994244 994244 T C SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1958 p.V653A 0.059 pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 - - 143 0 0.00 89 19 17.43 AP3D1 0 genome.wustl.edu 37 19 2118678 2118678 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 2118678 2118678 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.1635 p.G545 0.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 - - 79 0 0.00 39 11 22.00 AP4E1 0 genome.wustl.edu 37 15 51240349 51240349 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 51240349 51240349 G T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1309 p.A437S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,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 - - 125 0 0.00 71 9 11.25 AP5S1 0 genome.wustl.edu 37 20 3802809 3802809 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 3802809 3802809 T A SNP AP5S1 ENST00000246041 human ensembl 74_37 +1 known silent c.45 p.T15 0.002 NULL NULL - no_errors AP5S1 HGNC ENSG00000125843 tier1 - - 63 0 0.00 51 10 16.39 APC 0 genome.wustl.edu 37 5 112178969 112178969 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 112178969 112178969 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.7678 p.R2560* 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 141 0 0.00 97 10 9.35 APOA4 0 genome.wustl.edu 37 11 116691961 116691961 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 116691961 116691961 G A SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known silent c.813 p.A271 0.001 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 tier1 - - 110 0 0.00 97 28 22.40 APOB 0 genome.wustl.edu 37 2 21231146 21231146 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 21231146 21231146 T - DEL APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_del c.8594 p.N2865fs 0.991 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 282 0 0.00 186 32 14.68 APOB 0 genome.wustl.edu 37 2 21238075 21238076 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 21238075 21238076 - T INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.3566_3565 p.M1189fs 0.002:0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 98 0 0.00 76 18 19.15 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 tier1 75 0 0.00 45 12 21.05 ARAP1 0 genome.wustl.edu 37 11 72437687 72437687 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 72437687 72437687 C T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.487 p.G163R 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,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 ARAP1 HGNC ENSG00000186635 tier1 - - 8 0 0.00 6 4 40.00 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 tier1 172 0 0.00 124 34 21.52 ARFGAP2 0 genome.wustl.edu 37 11 47198137 47198137 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47198137 47198137 A T SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.121 p.Y41N 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 tier1 - - 117 0 0.00 79 18 18.56 ARG2 0 genome.wustl.edu 37 14 68114795 68114795 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 68114795 68114795 A G SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known missense c.754 p.I252V 1.000 pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 tier1 - - 40 0 0.00 21 9 30.00 ARHGAP10 0 genome.wustl.edu 37 4 148800405 148800405 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 148800405 148800405 T A SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known missense c.855 p.S285R 0.994 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 tier1 - - 174 0 0.00 121 24 16.55 ARHGAP22 0 genome.wustl.edu 37 10 49687769 49687769 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 49687769 49687769 C T SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.361 p.E121K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 tier1 - - 32 0 0.00 27 4 12.90 ARHGAP35 0 genome.wustl.edu 37 19 47421989 47421989 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47421989 47421989 G T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known silent c.57 p.V19 1.000 superfamily_P-loop_NTPase 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 tier1 - - 206 0 0.00 153 34 18.18 ARHGAP4 0 genome.wustl.edu 37 X 153174920 153174920 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 153174920 153174920 G T SNP ARHGAP4 ENST00000350060 human ensembl 74_37 -1 known silent c.2484 p.L828 0.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 tier1 - - 53 0 0.00 41 11 21.15 ARHGEF17 0 genome.wustl.edu 37 11 73020911 73020911 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73020911 73020911 T C SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1228 p.S410P 0.737 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 94 0 0.00 79 12 13.19 ARHGEF26 0 genome.wustl.edu 37 3 153840069 153840069 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 153840069 153840069 G A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.288 p.T96 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 34 0 0.00 33 11 25.00 ARHGEF40 0 genome.wustl.edu 37 14 21542367 21542367 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 21542367 21542367 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.478 p.G160S 0.571 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 tier1 - - 77 0 0.00 41 13 24.07 ARID1A 0 genome.wustl.edu 37 1 27106424 27106424 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 27106424 27106424 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6035 p.G2012D 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 92 0 0.00 74 14 15.91 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 tier1 81 0 0.00 46 10 17.86 ARMC12 0 genome.wustl.edu 37 6 35704937 35704937 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35704937 35704937 G A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.52 p.V18I 0.035 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 tier1 - - 89 0 0.00 49 20 28.99 ARMC2 0 genome.wustl.edu 37 6 109286219 109286219 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 109286219 109286219 T A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.2322 p.D774E 0.982 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 tier1 - - 236 0 0.00 219 15 6.41 ARPC1B 0 genome.wustl.edu 37 7 98985793 98985793 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 98985793 98985793 T G SNP ARPC1B ENST00000252725 human ensembl 74_37 +1 known missense c.301 p.C101G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 tier1 - - 71 0 0.00 71 6 7.79 ARSD 0 genome.wustl.edu 37 X 2836108 2836108 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 2836108 2836108 G T SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.600 p.L200 0.001 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 26 0 0.00 14 2 12.50 ASAP2 0 genome.wustl.edu 37 2 9528643 9528643 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 9528643 9528643 C - DEL ASAP2 ENST00000281419 human ensembl 74_37 +1 known frame_shift_del c.2351 p.P786fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 75 0 0.00 46 12 20.69 ASB5 0 genome.wustl.edu 37 4 177142692 177142692 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 177142692 177142692 A T SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.444 p.S148R 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 tier1 - - 96 0 0.00 66 11 14.29 ASGR1 0 genome.wustl.edu 37 17 7077305 7077305 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7077305 7077305 C T SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known missense c.676 p.G226R 0.998 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 tier1 - - 152 0 0.00 100 26 20.63 ASH1L 0 genome.wustl.edu 37 1 155308000 155308000 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155308000 155308000 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.8698 p.T2900fs 0.002 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 138 0 0.00 129 38 22.75 ASPRV1 0 genome.wustl.edu 37 2 70188545 70188545 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 70188545 70188545 A G SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known silent c.276 p.S92 0.233 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 tier1 - - 84 0 0.00 84 11 11.58 ASS1 0 genome.wustl.edu 37 9 133355812 133355812 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 133355812 133355812 C T SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.814 p.R272C 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 tier1 - - 66 0 0.00 69 11 13.75 ASXL1 0 genome.wustl.edu 37 20 31017757 31017757 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 31017757 31017757 A G SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.619 p.S207G 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 90 0 0.00 58 19 24.68 ATAD2 0 genome.wustl.edu 37 8 124368684 124368685 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 124368684 124368685 - A INS ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_ins c.1591_1590 p.D530fs 1.000:1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 37 0 0.00 32 8 20.00 ATAD5 0 genome.wustl.edu 37 17 29161911 29161912 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 29161911 29161912 - A INS ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_ins c.812_813 p.S273fs 0.998:0.995 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 71 0 0.00 62 10 13.89 ATE1 0 genome.wustl.edu 37 10 123600765 123600765 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 123600765 123600765 G - DEL ATE1 ENST00000224652 human ensembl 74_37 -1 known frame_shift_del c.989 p.P330fs 0.149 pfam_Arg-tRNA-P_Trfase_C,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 tier1 24 0 0.00 19 8 29.63 ATN1 0 genome.wustl.edu 37 12 7047777 7047777 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 7047777 7047777 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.2651 p.R884H 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 153 0 0.00 116 25 17.73 ATN1 0 genome.wustl.edu 37 12 7050172 7050172 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 7050172 7050172 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.3344 p.R1115H 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 69 0 0.00 57 12 17.39 ATOH1 0 genome.wustl.edu 37 4 94751046 94751046 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 94751046 94751046 G A SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known silent c.969 p.V323 0.508 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 tier1 - - 258 0 0.00 218 16 6.84 ATP13A1 0 genome.wustl.edu 37 19 19758244 19758244 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 19758244 19758244 T G SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.2887 p.K963Q 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 42 0 0.00 47 3 6.00 ATP13A2 0 genome.wustl.edu 37 1 17332244 17332244 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 17332244 17332244 T C SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.40 p.T14A 0.494 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 22 0 0.00 22 2 8.33 ATP2A3 0 genome.wustl.edu 37 17 3840765 3840765 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 3840765 3840765 T A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.2266 p.N756Y 1.000 prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 57 0 0.00 68 4 5.56 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 tier1 113 0 0.00 62 10 13.89 ATP6V1D 0 genome.wustl.edu 37 14 67815817 67815817 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 67815817 67815817 T C SNP ATP6V1D ENST00000216442 human ensembl 74_37 -1 known missense c.244 p.T82A 1.000 pfam_V_ATPase_D,tigrfam_V_ATPase_D pfam_V_ATPase_D,tigrfam_V_ATPase_D - no_errors ATP6V1D HGNC ENSG00000100554 tier1 - - 60 0 0.00 47 5 9.62 ATP8B3 0 genome.wustl.edu 37 19 1785607 1785607 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1785607 1785607 T C SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.3284 p.H1095R 0.834 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP8B3 HGNC ENSG00000130270 tier1 - - 48 0 0.00 44 5 10.20 ATP8B5P 0 genome.wustl.edu 37 9 35450411 35450411 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35450411 35450411 T - DEL ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.812 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 12 0 0.00 4 3 42.86 ATRIP 0 genome.wustl.edu 37 3 48500804 48500804 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48500804 48500804 G A SNP ATRIP ENST00000320211 human ensembl 74_37 +1 known silent c.876 p.E292 0.000 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 tier1 - - 76 0 0.00 43 11 20.37 ATRIP 0 genome.wustl.edu 37 3 48506423 48506423 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48506423 48506423 A G SNP ATRIP ENST00000320211 human ensembl 74_37 +1 known missense c.2249 p.Q750R 1.000 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 tier1 - - 111 0 0.00 77 22 22.22 AXIN2 0 genome.wustl.edu 37 17 63533583 63533583 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 63533583 63533583 A T SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.1571 p.V524D 0.081 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 179 0 0.00 109 23 17.42 B2M 0 genome.wustl.edu 37 15 45007753 45007753 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 45007753 45007753 A - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.200 p.V69fs 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 tier1 163 0 0.00 115 36 23.84 B4GALNT3 0 genome.wustl.edu 37 12 662790 662790 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 662790 662790 G A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.1701 p.S567 0.009 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 101 0 0.00 68 4 5.56 BACE2 0 genome.wustl.edu 37 21 42647438 42647438 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 42647438 42647438 A G SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.1444 p.I482V 0.825 prints_Pept_A1_BACE,prints_Pept_A1_BACE1 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 tier1 - - 75 0 0.00 53 5 8.62 BAD 0 genome.wustl.edu 37 11 64037781 64037781 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64037781 64037781 C T SNP BAD ENST00000309032 human ensembl 74_37 -1 known missense c.407 p.G136D 1.000 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 tier1 - - 135 0 0.00 62 17 21.52 BARX2 0 genome.wustl.edu 37 11 129321068 129321068 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 129321068 129321068 A C SNP BARX2 ENST00000281437 human ensembl 74_37 +1 known missense c.611 p.K204T 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 tier1 - - 59 0 0.00 54 7 11.48 BAZ1A 0 genome.wustl.edu 37 14 35264883 35264883 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 35264883 35264883 T G SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.1217 p.D406A 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 tier1 - - 96 0 0.00 55 7 11.29 BCAP29 0 genome.wustl.edu 37 7 107258929 107258929 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107258929 107258929 A G SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known missense c.926 p.H309R 0.025 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 47 0 0.00 30 5 14.29 BCL11A 0 genome.wustl.edu 37 2 60688143 60688143 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 60688143 60688143 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1904 p.R635H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 65 0 0.00 49 17 25.76 BCMO1 0 genome.wustl.edu 37 16 81293328 81293328 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 81293328 81293328 A G SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.241 p.T81A 0.127 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 - - 95 0 0.00 69 9 11.54 BCR 0 genome.wustl.edu 37 22 23655032 23655032 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 23655032 23655032 G A SNP BCR ENST00000458056 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 - - 83 0 0.00 67 18 21.18 BDP1 0 genome.wustl.edu 37 5 70808205 70808205 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 70808205 70808205 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4197 p.Q1399H 0.061 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 142 0 0.00 109 6 5.22 BHLHE41 0 genome.wustl.edu 37 12 26275580 26275580 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 26275580 26275580 C G SNP BHLHE41 ENST00000242728 human ensembl 74_37 -1 known missense c.868 p.G290R 0.237 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE41 HGNC ENSG00000123095 tier1 - - 21 0 0.00 13 6 31.58 BIRC2 0 genome.wustl.edu 37 11 102221012 102221012 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102221012 102221012 T A SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.427 p.L143M 0.009 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 tier1 - - 188 0 0.00 144 18 11.11 BIRC2 0 genome.wustl.edu 37 11 102221453 102221453 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102221453 102221453 C A SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.868 p.L290I 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 tier1 - - 167 0 0.00 123 9 6.82 BIRC5 0 genome.wustl.edu 37 17 76212683 76212683 + RNA SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76212683 76212683 G T SNP BIRC5 ENST00000589892 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors BIRC5 HGNC ENSG00000089685 tier1 - - 96 0 0.00 103 12 10.43 BIRC5 0 genome.wustl.edu 37 17 76219623 76219623 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76219623 76219623 T C SNP BIRC5 ENST00000374948 human ensembl 74_37 +1 known missense c.299 p.L100P 0.007 NULL pfam_BIR,smart_BIR,pfscan_BIR - no_errors BIRC5 HGNC ENSG00000089685 tier1 - - 46 0 0.00 19 20 51.28 BLNK 0 genome.wustl.edu 37 10 97987266 97987266 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 97987266 97987266 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.261 p.P87 0.001 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 165 0 0.00 147 43 22.63 BMI1 0 genome.wustl.edu 37 10 22617601 22617601 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 22617601 22617601 A - DEL BMI1 ENST00000376663 human ensembl 74_37 +1 known frame_shift_del c.544 p.M183fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 tier1 108 0 0.00 76 9 10.59 BNC1 0 genome.wustl.edu 37 15 83932799 83932799 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 83932799 83932799 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1204 p.R402W 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 186 0 0.00 107 31 22.46 BOD1L1 0 genome.wustl.edu 37 4 13606035 13606035 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 13606035 13606035 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.2489 p.R830H 0.624 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 rs142797611 - 44 0 0.00 22 6 21.43 BPIFA2 0 genome.wustl.edu 37 20 31768343 31768343 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 31768343 31768343 A C SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.727 p.T243P 0.000 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 tier1 rs199534853 - 119 0 0.00 94 17 15.32 BRAT1 0 genome.wustl.edu 37 7 2577779 2577780 + Frame_Shift_Del DEL TT TT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 2577779 2577780 TT - DEL BRAT1 ENST00000340611 human ensembl 74_37 -1 known frame_shift_del c.2390_2389 p.K797fs 0.946:0.944 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 tier1 63 0 0.00 75 14 15.73 BRD8 0 genome.wustl.edu 37 5 137504163 137504163 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 137504163 137504163 C A SNP BRD8 ENST00000230901 human ensembl 74_37 -1 known missense c.857 p.R286I 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 tier1 - - 111 0 0.00 88 13 12.87 BRF1 0 genome.wustl.edu 37 14 105693010 105693010 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 105693010 105693010 G - DEL BRF1 ENST00000546474 human ensembl 74_37 -1 known frame_shift_del c.876 p.S293fs 0.896 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 tier1 135 0 0.00 113 18 13.74 BRICD5 0 genome.wustl.edu 37 16 2259686 2259686 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2259686 2259686 T A SNP BRICD5 ENST00000562360 human ensembl 74_37 -1 known missense c.460 p.S154C 0.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 tier1 - - 233 0 0.00 190 11 5.47 BRK1 0 genome.wustl.edu 37 3 10167974 10167974 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10167974 10167974 A G SNP BRK1 ENST00000256463 human ensembl 74_37 +1 known splice_site c.222+1 e3+1 1.000 - - - no_errors BRK1 HGNC ENSG00000254999 tier1 - - 15 0 0.00 5 8 61.54 BRWD1 0 genome.wustl.edu 37 21 40558989 40558989 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 40558989 40558989 A - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.6926 p.L2309fs 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 tier1 135 0 0.00 70 15 17.65 BTN3A3 0 genome.wustl.edu 37 6 26448645 26448645 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 26448645 26448645 C T SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known silent c.885 p.Y295 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-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 BTN3A3 HGNC ENSG00000111801 tier1 - - 57 0 0.00 57 18 24.00 BTNL8 0 genome.wustl.edu 37 5 180376246 180376246 + Nonsense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 180376246 180376246 A T SNP BTNL8 ENST00000231229 human ensembl 74_37 +1 known nonsense c.973 p.R325* 0.025 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 tier1 - - 89 0 0.00 70 8 10.26 C10orf118 0 genome.wustl.edu 37 10 115896980 115896980 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115896980 115896980 G A SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known nonsense c.1291 p.R431* 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 tier1 - - 35 0 0.00 27 6 18.18 C10orf76 0 genome.wustl.edu 37 10 103609552 103609552 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 103609552 103609552 G A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.1958 p.A653V 1.000 pfam_DUF1741 pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 191 0 0.00 154 25 13.97 C11orf53 0 genome.wustl.edu 37 11 111156426 111156426 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 111156426 111156426 C A SNP C11orf53 ENST00000280325 human ensembl 74_37 +1 known missense c.358 p.P120T 0.002 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 tier1 - - 114 0 0.00 79 20 20.20 C11orf57 0 genome.wustl.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 111953289 111953289 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.475 p.K161fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 tier1 66 0 0.00 55 8 12.70 C16orf78 0 genome.wustl.edu 37 16 49430375 49430375 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 49430375 49430375 C T SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.436 p.R146W 0.029 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 - - 95 0 0.00 56 10 15.15 C17orf62 0 genome.wustl.edu 37 17 80401836 80401836 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80401836 80401836 A G SNP C17orf62 ENST00000336995 human ensembl 74_37 -1 known missense c.163 p.W55R 0.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 tier1 - - 388 0 0.00 332 31 8.54 C17orf74 0 genome.wustl.edu 37 17 7329696 7329696 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7329696 7329696 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.386 p.R129H 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 tier1 - - 77 0 0.00 55 8 11.11 C17orf80 0 genome.wustl.edu 37 17 71232449 71232449 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 71232449 71232449 A T SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known missense c.828 p.E276D 0.004 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 tier1 - - 53 0 0.00 44 7 13.73 C17orf82 0 genome.wustl.edu 37 17 59489855 59489855 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 59489855 59489855 A T SNP C17orf82 ENST00000335108 human ensembl 74_37 +1 known missense c.519 p.E173D 0.003 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 tier1 - - 11 0 0.00 10 4 28.57 C19orf12 0 genome.wustl.edu 37 19 30193867 30193868 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 30193867 30193868 - C INS C19orf12 ENST00000392278 human ensembl 74_37 -1 known frame_shift_ins c.211_210 p.L70fs 0.032:0.004 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 tier1 181 0 0.00 151 20 11.70 C19orf47 0 genome.wustl.edu 37 19 40827881 40827881 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 40827881 40827881 G - DEL C19orf47 ENST00000582783 human ensembl 74_37 -1 known frame_shift_del c.1177 p.R393fs 0.988 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 tier1 105 0 0.00 73 10 12.05 C1QTNF4 0 genome.wustl.edu 37 11 47612307 47612307 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47612307 47612307 G A SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known missense c.56 p.P19L 0.194 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 tier1 - - 16 0 0.00 9 4 30.77 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 tier1 126 0 0.00 98 14 12.50 C1QTNF6 0 genome.wustl.edu 37 22 37578513 37578513 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 37578513 37578513 A C SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known silent c.552 p.A184 0.020 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 tier1 - - 70 0 0.00 61 12 16.44 C1orf109 0 genome.wustl.edu 37 1 38155545 38155545 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 38155545 38155545 T C SNP C1orf109 ENST00000358011 human ensembl 74_37 -1 known missense c.8 p.Q3R 0.003 NULL NULL - no_errors C1orf109 HGNC ENSG00000116922 tier1 - - 48 0 0.00 33 13 28.26 C1orf116 0 genome.wustl.edu 37 1 207195389 207195390 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207195389 207195390 - G INS C1orf116 ENST00000359470 human ensembl 74_37 -1 known frame_shift_ins c.1720_1719 p.C573fs 0.855:0.065 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 tier1 75 0 0.00 61 10 14.08 C1orf177 0 genome.wustl.edu 37 1 55279487 55279487 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 55279487 55279487 A - DEL C1orf177 ENST00000371273 human ensembl 74_37 +1 known frame_shift_del c.763 p.K257fs 0.997 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 tier1 51 0 0.00 52 14 21.21 C22orf29 0 genome.wustl.edu 37 22 19839744 19839744 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 19839744 19839744 G T SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known missense c.41 p.P14H 0.002 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 tier1 - - 172 0 0.00 142 22 13.33 C2CD3 0 genome.wustl.edu 37 11 73795974 73795974 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73795974 73795974 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.3952 p.L1318F 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 76 0 0.00 63 12 16.00 C2CD3 0 genome.wustl.edu 37 11 73825523 73825523 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73825523 73825523 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1636 p.E546K 0.954 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 98 0 0.00 49 18 26.47 C3orf58 0 genome.wustl.edu 37 3 143691559 143691559 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 143691559 143691559 G A SNP C3orf58 ENST00000315691 human ensembl 74_37 +1 known missense c.385 p.A129T 1.000 NULL NULL - no_errors C3orf58 HGNC ENSG00000181744 tier1 - - 30 0 0.00 22 8 26.67 C4orf21 0 genome.wustl.edu 37 4 113475112 113475112 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 113475112 113475112 C T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.5225 p.S1742N 0.641 superfamily_P-loop_NTPase pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 106 0 0.00 87 10 10.31 C4orf27 0 genome.wustl.edu 37 4 170674860 170674860 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170674860 170674860 A G SNP C4orf27 ENST00000393381 human ensembl 74_37 -1 known missense c.175 p.F59L 1.000 NULL pfam_DUF2228_C2H2_APLF-like - no_errors C4orf27 HGNC ENSG00000056050 tier1 - - 34 0 0.00 31 4 11.43 C6orf195 0 genome.wustl.edu 37 6 2623926 2623926 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 2623926 2623926 G A SNP C6orf195 ENST00000296847 human ensembl 74_37 -1 known missense c.131 p.A44V 0.000 NULL NULL - no_errors C6orf195 HGNC ENSG00000164385 tier1 - - 113 0 0.00 93 29 23.77 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 tier1 68 0 0.00 56 7 11.11 C8orf33 0 genome.wustl.edu 37 8 146278758 146278758 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 146278758 146278758 A G SNP C8orf33 ENST00000331434 human ensembl 74_37 +1 known missense c.479 p.H160R 0.031 NULL NULL - no_errors C8orf33 HGNC ENSG00000182307 tier1 - - 103 0 0.00 89 16 15.24 C8orf34 0 genome.wustl.edu 37 8 69381025 69381025 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 69381025 69381025 C A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.706 p.L236M 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 54 0 0.00 42 10 19.23 C9orf114 0 genome.wustl.edu 37 9 131591432 131591432 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 131591432 131591432 A G SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known silent c.39 p.G13 0.990 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 tier1 - - 152 0 0.00 101 14 12.17 C9orf117 0 genome.wustl.edu 37 9 130469428 130469428 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130469428 130469428 T C SNP C9orf117 ENST00000373295 human ensembl 74_37 +1 known missense c.118 p.F40L 1.000 NULL NULL - no_errors C9orf117 HGNC ENSG00000160401 tier1 - - 147 0 0.00 137 18 11.61 C9orf129 0 genome.wustl.edu 37 9 96097786 96097786 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96097786 96097786 G A SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known silent c.235 p.L79 0.953 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 tier1 - - 115 0 0.00 59 15 20.27 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 673 0 0.00 578 84 12.69 C9orf152 0 genome.wustl.edu 37 9 112963473 112963473 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 112963473 112963473 A G SNP C9orf152 ENST00000400613 human ensembl 74_37 -1 known silent c.475 p.L159 0.001 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 tier1 - - 371 0 0.00 318 31 8.88 C9orf41 0 genome.wustl.edu 37 9 77614678 77614678 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 77614678 77614678 A - DEL C9orf41 ENST00000376834 human ensembl 74_37 -1 known frame_shift_del c.699 p.F233fs 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 tier1 73 0 0.00 48 12 20.00 C9orf89 0 genome.wustl.edu 37 9 95872817 95872817 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 95872817 95872817 C T SNP C9orf89 ENST00000488630 human ensembl 74_37 +1 known rna NULL NULL 0.576 - - - no_errors C9orf89 HGNC ENSG00000165233 tier1 - - 99 0 0.00 102 16 13.56 CA7 0 genome.wustl.edu 37 16 66885451 66885451 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 66885451 66885451 T - DEL CA7 ENST00000338437 human ensembl 74_37 +1 known frame_shift_del c.443 p.L150fs 0.987 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA7 HGNC ENSG00000168748 tier1 203 0 0.00 152 21 12.14 CACNA1E 0 genome.wustl.edu 37 1 181706742 181706742 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 181706742 181706742 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.3504 p.I1168 0.978 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 203 0 0.00 133 28 17.39 CACNA1E 0 genome.wustl.edu 37 1 181727135 181727135 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 181727135 181727135 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4382 p.P1461L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 131 0 0.00 135 11 7.53 CACNA1G 0 genome.wustl.edu 37 17 48683419 48683419 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48683419 48683419 A G SNP CACNA1G ENST00000416767 human ensembl 74_37 +1 putative missense c.4457 p.K1486R 0.001 NULL pfam_Ion_trans_dom,prints_VDCC_T_a1su - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 160 0 0.00 121 14 10.37 CAMSAP1 0 genome.wustl.edu 37 9 138742275 138742275 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 138742275 138742275 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.874 p.D292N 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 - - 99 0 0.00 75 12 13.79 CANT1 0 genome.wustl.edu 37 17 76989803 76989803 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76989803 76989803 C T SNP CANT1 ENST00000302345 human ensembl 74_37 -1 known silent c.1035 p.S345 0.914 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 tier1 - - 114 0 0.00 50 32 39.02 CAPN5 0 genome.wustl.edu 37 11 76823777 76823779 + In_Frame_Del DEL TCA TCA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 76823777 76823779 TCA - DEL CAPN5 ENST00000278559 human ensembl 74_37 +1 known in_frame_del c.440_442 p.I148in_frame_del 1.000:1.000:1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 tier1 63 0 0.00 32 9 21.95 CAPN5 0 genome.wustl.edu 37 11 76826568 76826568 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 76826568 76826568 A G SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.827 p.K276R 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 tier1 - - 83 0 0.00 67 6 8.22 CARF 0 genome.wustl.edu 37 2 203848308 203848308 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 203848308 203848308 A - DEL CARF ENST00000320443 human ensembl 74_37 +1 known frame_shift_del c.2139 p.T716fs 0.979 NULL NULL - no_errors CARF HGNC ENSG00000138380 tier1 73 0 0.00 63 13 17.11 CAST 0 genome.wustl.edu 37 5 96086366 96086366 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96086366 96086366 C - DEL CAST ENST00000395813 human ensembl 74_37 +1 known frame_shift_del c.1504 p.P503fs 0.143 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 tier1 68 0 0.00 49 6 10.91 CBLL1 0 genome.wustl.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107395909 107395909 A - DEL CBLL1 ENST00000440859 human ensembl 74_37 +1 known frame_shift_del c.413 p.K140fs 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 tier1 125 0 0.00 126 15 10.64 CBLL1 0 genome.wustl.edu 37 7 107399402 107399402 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107399402 107399402 C - DEL CBLL1 ENST00000440859 human ensembl 74_37 +1 known frame_shift_del c.1255 p.P420fs 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 tier1 236 0 0.00 189 26 12.09 CBX7 0 genome.wustl.edu 37 22 39537389 39537389 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 39537389 39537389 C T SNP CBX7 ENST00000216133 human ensembl 74_37 -1 known missense c.166 p.A56T 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX7 HGNC ENSG00000100307 tier1 - - 30 0 0.00 22 5 18.52 CC2D2A 0 genome.wustl.edu 37 4 15539567 15539567 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 15539567 15539567 G A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.1810 p.G604S 0.612 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 24 0 0.00 27 5 15.62 CCAR1 0 genome.wustl.edu 37 10 70513668 70513668 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70513668 70513668 A G SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.1178 p.D393G 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 207 0 0.00 161 24 12.90 CCAR1 0 genome.wustl.edu 37 10 70530982 70530982 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70530982 70530982 T C SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.2318 p.L773P 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 96 0 0.00 72 16 18.18 CCAR2 0 genome.wustl.edu 37 8 22476357 22476357 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22476357 22476357 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.2350 p.P785fs 0.998 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 tier1 289 0 0.00 255 31 10.84 CCAR2 0 genome.wustl.edu 37 8 22473323 22473324 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22473323 22473324 0 C INS CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_ins c.1506_1507 p.L504fs 0.680:0.809 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 103 0 0.00 125 10 7.41 CCDC114 0 genome.wustl.edu 37 19 48800319 48800319 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 48800319 48800319 C T SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.1927 p.G643R 0.006 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 tier1 - - 121 0 0.00 79 24 23.30 CCDC122 0 genome.wustl.edu 37 13 44433981 44433981 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 44433981 44433981 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.382 p.Y128H 1.000 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 tier1 rs1054686 - 75 0 0.00 72 7 8.86 CCDC149 0 genome.wustl.edu 37 4 24839015 24839015 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 24839015 24839015 G A SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known missense c.497 p.S166F 0.604 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 tier1 - - 94 0 0.00 70 18 20.45 CCDC151 0 genome.wustl.edu 37 19 11541818 11541818 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11541818 11541818 A - DEL CCDC151 ENST00000356392 human ensembl 74_37 -1 known frame_shift_del c.267 p.F89fs 0.964 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 256 0 0.00 184 42 18.58 CCDC153 0 genome.wustl.edu 37 11 119063905 119063905 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119063905 119063905 C T SNP CCDC153 ENST00000415318 human ensembl 74_37 -1 known missense c.305 p.S102N 0.043 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 tier1 - - 132 0 0.00 95 22 18.80 CCDC158 0 genome.wustl.edu 37 4 77274364 77274364 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 77274364 77274364 T - DEL CCDC158 ENST00000388914 human ensembl 74_37 -1 known frame_shift_del c.2357 p.N786fs 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 52 0 0.00 37 8 17.78 CCDC174 0 genome.wustl.edu 37 3 14712474 14712474 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 14712474 14712474 C T SNP CCDC174 ENST00000383794 human ensembl 74_37 +1 known missense c.1177 p.P393S 1.000 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 tier1 - - 46 0 0.00 43 16 27.12 CCDC22 0 genome.wustl.edu 37 X 49093689 49093689 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 49093689 49093689 G A SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known missense c.187 p.A63T 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 105 0 0.00 85 8 8.60 CCDC37 0 genome.wustl.edu 37 3 126138588 126138588 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 126138588 126138588 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known silent c.843 p.S281 0.002 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 96 0 0.00 60 18 23.08 CCDC73 0 genome.wustl.edu 37 11 32676507 32676507 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 32676507 32676507 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.657 p.A220fs 0.987 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 tier1 37 0 0.00 21 6 22.22 CCDC88C 0 genome.wustl.edu 37 14 91787503 91787503 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 91787503 91787503 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.1488 p.C496 0.738 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 28 0 0.00 20 7 25.93 CCND2 0 genome.wustl.edu 37 12 4409106 4409106 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 4409106 4409106 C T SNP CCND2 ENST00000261254 human ensembl 74_37 +1 known silent c.801 p.D267 0.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND2 HGNC ENSG00000118971 tier1 - - 63 0 0.00 37 12 24.49 CCSAP 0 genome.wustl.edu 37 1 229460857 229460857 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 229460857 229460857 A - DEL CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 19 0 0.00 16 3 15.79 CCT6A 0 genome.wustl.edu 37 7 56126090 56126091 + Frame_Shift_Ins INS - - AG TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 56126090 56126091 - AG INS CCT6A ENST00000275603 human ensembl 74_37 +1 known frame_shift_ins c.761_762 p.E258fs 1.000:0.988 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 tier1 70 0 0.00 49 9 15.52 CCT6B 0 genome.wustl.edu 37 17 33255998 33255998 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33255998 33255998 T 0 DEL CCT6B ENST00000314144 human ensembl 74_37 -1 known frame_shift_del c.1506 p.K502fs 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 78 0 0.00 78 8 9.30 CD109 0 genome.wustl.edu 37 6 74490205 74490206 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 74490205 74490206 - T INS CD109 ENST00000287097 human ensembl 74_37 +1 known frame_shift_ins c.1886_1887 p.A631fs 1.000:0.997 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 151 0 0.00 102 15 12.82 CD1A 0 genome.wustl.edu 37 1 158226062 158226062 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 158226062 158226062 C A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known silent c.594 p.L198 0.003 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 150 0 0.00 84 18 17.65 CD226 0 genome.wustl.edu 37 18 67563064 67563064 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 67563064 67563064 G A SNP CD226 ENST00000280200 human ensembl 74_37 -1 known silent c.600 p.S200 0.015 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD226 HGNC ENSG00000150637 tier1 - - 136 0 0.00 79 20 20.20 CD274 0 genome.wustl.edu 37 9 5457204 5457204 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 5457204 5457204 G A SNP CD274 ENST00000381577 human ensembl 74_37 +1 known missense c.178 p.E60K 0.975 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD274 HGNC ENSG00000120217 tier1 - - 90 0 0.00 97 7 6.73 CD7 0 genome.wustl.edu 37 17 80274674 80274674 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80274674 80274674 T G SNP CD7 ENST00000312648 human ensembl 74_37 -1 known missense c.266 p.D89A 0.004 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 tier1 - - 238 0 0.00 208 14 6.31 CD84 0 genome.wustl.edu 37 1 160523852 160523852 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 160523852 160523852 T G SNP CD84 ENST00000534968 human ensembl 74_37 -1 known missense c.131 p.E44A 0.908 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 tier1 - - 76 0 0.00 77 7 8.33 CDC20 0 genome.wustl.edu 37 1 43824985 43824985 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43824985 43824985 G A SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known silent c.99 p.K33 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 tier1 - - 154 0 0.00 125 15 10.71 CDC20 0 genome.wustl.edu 37 1 43826885 43826885 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43826885 43826885 C T SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.1172 p.A391V 1.000 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,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 24 0 0.00 19 3 13.64 CDC42 0 genome.wustl.edu 37 1 22408234 22408234 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22408234 22408234 T G SNP CDC42 ENST00000421089 human ensembl 74_37 +1 known missense c.251 p.V84G 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CDC42 HGNC ENSG00000070831 tier1 - - 103 0 0.00 81 9 10.00 CDC42BPA 0 genome.wustl.edu 37 1 227203899 227203899 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 227203899 227203899 C A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known splice_site c.4635-1 e33-1 1.000 - - - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 105 0 0.00 69 15 17.86 CDC42BPA 0 genome.wustl.edu 37 1 227262051 227262051 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 227262051 227262051 T - DEL CDC42BPA ENST00000334218 human ensembl 74_37 -1 known frame_shift_del c.2495 p.K832fs 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 112 0 0.00 84 15 15.15 CDC42BPB 0 genome.wustl.edu 37 14 103447137 103447137 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 103447137 103447137 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.1113 p.D371 0.674 pfam_Pkinase_C,smart_AGC-kinase_C pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 tier1 - - 81 0 0.00 70 15 17.65 CDC42BPG 0 genome.wustl.edu 37 11 64594190 64594190 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64594190 64594190 C G SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.4466 p.R1489P 0.875 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 17 0 0.00 16 4 20.00 CDC42BPG 0 genome.wustl.edu 37 11 64602414 64602414 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64602414 64602414 T C SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.2082 p.S694 0.081 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 117 0 0.00 74 18 19.57 CDH1 0 genome.wustl.edu 37 16 68845667 68845667 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 68845667 68845667 C A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.913 p.L305I 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 tier1 - - 97 0 0.00 74 11 12.94 CDH5 0 genome.wustl.edu 37 16 66420974 66420974 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 66420974 66420974 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.473 p.A158V 0.864 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 tier1 rs150311666 - 57 0 0.00 30 6 16.67 CDH8 0 genome.wustl.edu 37 16 61891051 61891051 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 61891051 61891051 C A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.639 p.Q213H 1.000 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 CDH8 HGNC ENSG00000150394 tier1 - - 124 0 0.00 98 21 17.50 CDK5RAP1 0 genome.wustl.edu 37 20 31961920 31961920 + Splice_Site DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 31961920 31961920 C - DEL CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known splice_site_del c.1247+1 e9+1 1.000 - - - no_errors CDK5RAP1 HGNC ENSG00000101391 tier1 178 0 0.00 157 36 18.65 CDK5RAP2 0 genome.wustl.edu 37 9 123216122 123216122 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123216122 123216122 A C SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2405 p.L802R 0.998 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 121 0 0.00 107 9 7.76 CDK5RAP2 0 genome.wustl.edu 37 9 123223027 123223027 + Splice_Site DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123223027 123223027 T - DEL CDK5RAP2 ENST00000480112 human ensembl 74_37 -1 known splice_site_del c.2104-2 e19-2 0.979 - - - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 19 0 0.00 12 5 29.41 CDK5RAP2 0 genome.wustl.edu 37 9 123290085 123290085 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123290085 123290085 T - DEL CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known frame_shift_del c.998 p.K333fs 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 74 0 0.00 60 8 11.76 CDKL3 0 genome.wustl.edu 37 5 133634349 133634349 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 133634349 133634349 A - DEL CDKL3 ENST00000265334 human ensembl 74_37 -1 known frame_shift_del c.1772 p.F591fs 0.700 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 CDKL3 HGNC ENSG00000006837 tier1 188 0 0.00 117 16 12.03 CDKL3 0 genome.wustl.edu 37 5 133643944 133643944 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 133643944 133643944 C A SNP CDKL3 ENST00000265334 human ensembl 74_37 -1 known missense c.1249 p.G417C 0.000 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 CDKL3 HGNC ENSG00000006837 tier1 - - 85 0 0.00 61 5 7.58 CEACAM5 0 genome.wustl.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42224865 42224866 - C INS CEACAM5 ENST00000221992 human ensembl 74_37 +1 known frame_shift_ins c.1795_1796 p.D602fs 0.002:0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 280 0 0.00 260 36 12.16 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454909 + Frame_Shift_Del DEL TT TT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 37454908 37454909 TT - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428_1427 p.K476fs 1.000:1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 tier1 64 0 0.00 47 12 20.34 CELF4 0 genome.wustl.edu 37 18 34853110 34853110 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 34853110 34853110 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.818 p.A273V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 tier1 - - 110 0 0.00 88 14 13.73 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 81 0 0.00 46 16 25.81 CELSR2 0 genome.wustl.edu 37 1 109795976 109795976 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109795976 109795976 G T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3275 p.R1092L 0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 60 0 0.00 38 13 25.49 CELSR2 0 genome.wustl.edu 37 1 109811254 109811254 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109811254 109811254 T C SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6370 p.W2124R 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 52 0 0.00 46 7 13.21 CENPT 0 genome.wustl.edu 37 16 67865164 67865164 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67865164 67865164 C T SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.658 p.G220S 0.361 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 tier1 - - 158 0 0.00 122 20 14.08 CEP55 0 genome.wustl.edu 37 10 95259896 95259896 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 95259896 95259896 T 0 DEL CEP55 ENST00000371485 human ensembl 74_37 +1 known frame_shift_del c.88 p.L30fs 0.999 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 339 0 0.00 267 19 6.64 CEP76 0 genome.wustl.edu 37 18 12699829 12699829 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 12699829 12699829 T - DEL CEP76 ENST00000262127 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 1.000 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 tier1 23 0 0.00 3 4 57.14 CERK 0 genome.wustl.edu 37 22 47087536 47087536 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 47087536 47087536 A T SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.1265 p.L422H 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 tier1 - - 45 0 0.00 48 5 9.43 CES1 0 genome.wustl.edu 37 16 55857537 55857537 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 55857537 55857537 C A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.464 p.G155V 0.996 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 107 0 0.00 90 9 9.09 CFB 0 genome.wustl.edu 37 6 31918063 31918063 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31918063 31918063 C T SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.3013 p.R1005C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 tier1 - - 100 0 0.00 50 13 20.63 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 tier1 11 0 0.00 6 6 50.00 CGN 0 genome.wustl.edu 37 1 151493103 151493103 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151493103 151493103 C A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.1076 p.A359E 0.893 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 34 0 0.00 43 4 8.51 CHD7 0 genome.wustl.edu 37 8 61713001 61713001 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 61713001 61713001 T C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.2293 p.F765L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 tier1 - - 36 0 0.00 24 9 27.27 CHMP1A 0 genome.wustl.edu 37 16 89724045 89724045 + RNA SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89724045 89724045 T A SNP CHMP1A ENST00000547614 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHMP1A HGNC ENSG00000131165 tier1 - - 44 0 0.00 34 6 15.00 CHP1 0 genome.wustl.edu 37 15 41555004 41555004 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 41555004 41555004 G A SNP CHP1 ENST00000334660 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP1 HGNC ENSG00000187446 tier1 - - 218 0 0.00 148 31 17.32 CHPF 0 genome.wustl.edu 37 2 220405041 220405041 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220405041 220405041 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.1392 p.T464 0.474 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 tier1 - - 128 0 0.00 90 25 21.74 CHST3 0 genome.wustl.edu 37 10 73767293 73767293 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 73767293 73767293 C T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.504 p.I168 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 - - 50 0 0.00 26 7 21.21 CHST3 0 genome.wustl.edu 37 10 73767317 73767317 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 73767317 73767317 G - DEL CHST3 ENST00000373115 human ensembl 74_37 +1 known frame_shift_del c.528 p.G178fs 0.047 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 39 0 0.00 17 5 22.73 CHST6 0 genome.wustl.edu 37 16 75513474 75513474 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 75513474 75513474 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.253 p.A85T 0.857 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 tier1 - - 85 0 0.00 55 12 17.91 CHST8 0 genome.wustl.edu 37 19 34263784 34263784 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 34263784 34263784 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1091 p.A364V 0.994 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 tier1 - - 82 0 0.00 41 11 21.15 CIAPIN1 0 genome.wustl.edu 37 16 57470614 57470614 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 57470614 57470614 T C SNP CIAPIN1 ENST00000394391 human ensembl 74_37 -1 known missense c.341 p.K114R 1.000 NULL pfam_Anamorsin - no_errors CIAPIN1 HGNC ENSG00000005194 tier1 - - 69 0 0.00 51 18 26.09 CIC 0 genome.wustl.edu 37 19 42796825 42796825 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42796825 42796825 T G SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.3283 p.F1095V 0.826 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 - - 173 0 0.00 111 15 11.90 CLCA4 0 genome.wustl.edu 37 1 87025666 87025666 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 87025666 87025666 T - DEL CLCA4 ENST00000370563 human ensembl 74_37 +1 known frame_shift_del c.211 p.F73fs 0.527 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 tier1 118 0 0.00 92 15 14.02 CLDN14 0 genome.wustl.edu 37 21 37833792 37833792 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 37833792 37833792 G T SNP CLDN14 ENST00000342108 human ensembl 74_37 -1 known silent c.202 p.R68 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14,prints_Claudin,prints_Claudin2 - no_errors CLDN14 HGNC ENSG00000159261 tier1 - - 76 0 0.00 44 14 24.14 CLEC17A 0 genome.wustl.edu 37 19 14707965 14707965 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 14707965 14707965 G A SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known missense c.638 p.R213Q 0.004 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 tier1 - - 24 0 0.00 13 5 27.78 CLEC4M 0 genome.wustl.edu 37 19 7833781 7833781 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 7833781 7833781 G A SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known silent c.1107 p.A369 0.000 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,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 tier1 rs144974332 - 187 0 0.00 100 11 9.91 CLIC1 0 genome.wustl.edu 37 6 31702034 31702034 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31702034 31702034 T C SNP CLIC1 ENST00000375779 human ensembl 74_37 -1 known missense c.46 p.S16G 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 42 0 0.00 31 3 8.82 CLK2 0 genome.wustl.edu 37 1 155239307 155239307 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155239307 155239307 C T SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.371 p.R124H 0.985 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 CLK2 HGNC ENSG00000176444 tier1 - - 123 0 0.00 106 22 17.19 CLOCK 0 genome.wustl.edu 37 4 56316280 56316280 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 56316280 56316280 G A SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known silent c.1326 p.H442 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 tier1 - - 84 0 0.00 53 20 27.40 CLOCK 0 genome.wustl.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 56336954 56336954 A - DEL CLOCK ENST00000309964 human ensembl 74_37 -1 known frame_shift_del c.368 p.L123fs 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 tier1 98 0 0.00 71 16 18.39 CLPX 0 genome.wustl.edu 37 15 65447360 65447360 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 65447360 65447360 T C SNP CLPX ENST00000300107 human ensembl 74_37 -1 known silent c.1371 p.A457 0.584 pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,tigrfam_Clp_protease_ATP-bd_su_ClpX pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 tier1 - - 76 0 0.00 52 7 11.86 CLPX 0 genome.wustl.edu 37 15 65458981 65458981 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 65458981 65458981 A G SNP CLPX ENST00000300107 human ensembl 74_37 -1 known silent c.501 p.P167 0.998 superfamily_P-loop_NTPase pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 tier1 - - 284 0 0.00 178 70 28.00 CLSPN 0 genome.wustl.edu 37 1 36212440 36212440 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36212440 36212440 T C SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known silent c.2781 p.L927 0.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 tier1 - - 112 0 0.00 84 15 15.15 CLTB 0 genome.wustl.edu 37 5 175819794 175819794 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 175819794 175819794 T A SNP CLTB ENST00000310418 human ensembl 74_37 -1 known missense c.671 p.Q224L 1.000 pfam_Clathrin_L-chain pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C - no_errors CLTB HGNC ENSG00000175416 tier1 - - 200 0 0.00 159 17 9.66 CMIP 0 genome.wustl.edu 37 16 81740617 81740617 + Splice_Site SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 81740617 81740617 A T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known splice_site c.2198-2 e20-2 1.000 - - - no_errors CMIP HGNC ENSG00000153815 tier1 - - 356 0 0.00 270 15 5.26 CMKLR1 0 genome.wustl.edu 37 12 108685700 108685700 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 108685700 108685700 T C SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.1040 p.Y347C 0.536 prints_DEZorph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 tier1 - - 85 0 0.00 62 7 10.14 CNBD1 0 genome.wustl.edu 37 8 87917380 87917380 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 87917380 87917380 A - DEL CNBD1 ENST00000518476 human ensembl 74_37 +1 known frame_shift_del c.230 p.K78fs 0.002 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 55 0 0.00 39 5 11.36 CNGA4 0 genome.wustl.edu 37 11 6265540 6265540 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6265540 6265540 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known silent c.1629 p.E543 0.987 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 tier1 - - 77 0 0.00 55 11 16.67 CNGB1 0 genome.wustl.edu 37 16 57994752 57994753 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 57994752 57994753 - T INS CNGB1 ENST00000251102 human ensembl 74_37 -1 known frame_shift_ins c.526_525 p.S175fs 0.000:0.001 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 tier1 46 0 0.00 41 6 12.77 CNOT1 0 genome.wustl.edu 37 16 58562480 58562480 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 58562480 58562480 A T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.6352 p.C2118S 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 116 0 0.00 61 16 20.78 CNOT1 0 genome.wustl.edu 37 16 58592417 58592417 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 58592417 58592417 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.2292 p.T764 0.823 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 50 0 0.00 36 7 16.28 CNOT11 0 genome.wustl.edu 37 2 101885600 101885600 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 101885600 101885600 T C SNP CNOT11 ENST00000289382 human ensembl 74_37 +1 known splice_site c.1335+2 e6+2 0.159 - - - no_errors CNOT11 HGNC ENSG00000158435 tier1 - - 34 0 0.00 20 6 23.08 CNOT2 0 genome.wustl.edu 37 12 70671919 70671919 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 70671919 70671919 C T SNP CNOT2 ENST00000549443 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CNOT2 HGNC ENSG00000111596 tier1 - - 25 0 0.00 12 5 29.41 CNPPD1 0 genome.wustl.edu 37 2 220037592 220037592 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220037592 220037592 T C SNP CNPPD1 ENST00000360507 human ensembl 74_37 -1 known missense c.949 p.T317A 0.267 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 tier1 - - 133 0 0.00 84 16 16.00 CNTD1 0 genome.wustl.edu 37 17 40957798 40957800 + In_Frame_Del DEL AAG AAG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40957798 40957800 AAG - DEL CNTD1 ENST00000588408 human ensembl 74_37 +1 known in_frame_del c.476_478 p.E161in_frame_del 1.000:1.000:1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC ENSG00000176563 tier1 64 0 0.00 46 8 14.81 CNTFR 0 genome.wustl.edu 37 9 34557547 34557547 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34557547 34557547 A C SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.581 p.I194S 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 tier1 - - 80 0 0.00 51 9 15.00 CNTFR 0 genome.wustl.edu 37 9 34557549 34557549 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34557549 34557549 A G SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known silent c.579 p.A193 0.859 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 tier1 - - 82 0 0.00 54 8 12.90 CNTN2 0 genome.wustl.edu 37 1 205042274 205042274 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 205042274 205042274 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.2923 p.E975K 0.987 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 72 0 0.00 84 8 8.70 CNTNAP3B 0 genome.wustl.edu 37 9 43818077 43818077 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 43818077 43818077 C T SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.964 p.R322W 0.518 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 tier1 - - 94 0 0.00 85 25 22.73 CNTNAP3B 0 genome.wustl.edu 37 9 43822687 43822687 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 43822687 43822687 G A SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1241 p.R414H 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 tier1 - - 56 0 0.00 38 11 22.45 CNTNAP4 0 genome.wustl.edu 37 16 76389240 76389240 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 76389240 76389240 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.219 p.V73 0.735 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 55 0 0.00 47 6 11.32 CNTROB 0 genome.wustl.edu 37 17 7843489 7843489 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7843489 7843489 C T SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known missense c.1240 p.R414W 0.738 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 tier1 - - 177 0 0.00 105 42 28.57 COG6 0 genome.wustl.edu 37 13 40268775 40268775 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 40268775 40268775 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.1079 p.R360Q 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 tier1 - - 126 0 0.00 75 21 21.88 COL11A1 0 genome.wustl.edu 37 1 103540183 103540183 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 103540183 103540183 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.642 p.E214D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 - - 49 0 0.00 23 8 25.81 COL12A1 0 genome.wustl.edu 37 6 75892895 75892895 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 75892895 75892895 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1762 p.A588S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 - - 85 0 0.00 76 10 11.63 COL13A1 0 genome.wustl.edu 37 10 71690203 71690203 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 71690203 71690203 C - DEL COL13A1 ENST00000356340 human ensembl 74_37 +1 known frame_shift_del c.1545 p.P517fs 0.979 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 tier1 42 0 0.00 47 10 17.54 COL26A1 0 genome.wustl.edu 37 7 101183294 101183294 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 101183294 101183294 C T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.568 p.P190S 0.944 NULL pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 tier1 - - 66 0 0.00 55 6 9.84 COL27A1 0 genome.wustl.edu 37 9 117051237 117051237 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 117051237 117051237 A G SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4142 p.Q1381R 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 - - 64 0 0.00 70 8 10.26 COL4A5 0 genome.wustl.edu 37 X 107812034 107812034 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 107812034 107812034 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.367 p.G123R 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 157 0 0.00 120 11 8.40 COL4A6 0 genome.wustl.edu 37 X 107406265 107406265 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 107406265 107406265 G C SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.4076 p.S1359C 0.177 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 205 0 0.00 126 12 8.70 COL6A6 0 genome.wustl.edu 37 3 130285992 130285992 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 130285992 130285992 C A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.1729 p.Q577K 0.009 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 179 0 0.00 126 17 11.89 COL7A1 0 genome.wustl.edu 37 3 48629533 48629533 + Splice_Site SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48629533 48629533 A T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known splice_site c.1240+2 e9+2 1.000 - - - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 294 0 0.00 204 22 9.73 COLGALT2 0 genome.wustl.edu 37 1 183947595 183947595 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 183947595 183947595 T - DEL COLGALT2 ENST00000361927 human ensembl 74_37 -1 known frame_shift_del c.323 p.N108fs 0.990 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 124 0 0.00 98 19 16.24 COQ3 0 genome.wustl.edu 37 6 99819383 99819383 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 99819383 99819383 A G SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known silent c.810 p.I270 1.000 tigrfam_UbiG_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 tier1 - - 59 0 0.00 39 15 27.78 CPA1 0 genome.wustl.edu 37 7 130023259 130023259 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 130023259 130023259 G T SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.511 p.A171S 0.998 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 tier1 - - 46 0 0.00 44 7 13.73 CPSF1 0 genome.wustl.edu 37 8 145626450 145626450 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145626450 145626450 A G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.407 p.V136A 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 tier1 - - 46 0 0.00 29 4 12.12 CPT1B 0 genome.wustl.edu 37 22 51013014 51013014 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 51013014 51013014 T C SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.793 p.K265E 0.962 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 220 0 0.00 150 37 19.79 CR1L 0 genome.wustl.edu 37 1 207868046 207868046 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207868046 207868046 A G SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.812 p.K271R 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 tier1 - - 201 0 0.00 150 12 7.41 CR1L 0 genome.wustl.edu 37 1 207890816 207890816 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207890816 207890816 T G SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.1422 p.F474L 0.459 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 tier1 - - 150 0 0.00 114 12 9.52 CR2 0 genome.wustl.edu 37 1 207641844 207641844 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207641844 207641844 T - DEL CR2 ENST00000485707 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors CR2 HGNC ENSG00000117322 tier1 32 0 0.00 32 4 11.11 CRAT 0 genome.wustl.edu 37 9 131870225 131870225 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 131870225 131870225 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.159 p.A53 0.015 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 tier1 rs149587791 - 96 0 0.00 106 22 17.05 CRB1 0 genome.wustl.edu 37 1 197390846 197390846 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 197390846 197390846 T G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1888 p.F630V 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 197 0 0.00 132 34 20.48 CREB3 0 genome.wustl.edu 37 9 35736486 35736486 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35736486 35736486 G A SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known silent c.879 p.Q293 0.027 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 tier1 - - 124 0 0.00 118 28 19.18 CREBBP 0 genome.wustl.edu 37 16 3779497 3779497 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3779497 3779497 G T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.5551 p.R1851S 1.000 NULL 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 CREBBP HGNC ENSG00000005339 tier1 - - 190 0 0.00 122 12 8.96 CRELD2 0 genome.wustl.edu 37 22 50312905 50312905 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50312905 50312905 T G SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.157 p.F53V 1.000 pfam_DUF3456 pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 tier1 - - 161 0 0.00 102 31 23.31 CREM 0 genome.wustl.edu 37 10 35456559 35456559 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 35456559 35456559 T - DEL CREM ENST00000497686 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CREM HGNC ENSG00000095794 tier1 47 0 0.00 36 9 20.00 CRMP1 0 genome.wustl.edu 37 4 5838533 5838533 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 5838533 5838533 C T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1411 p.G471R 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 139 0 0.00 86 27 23.89 CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs10796418 - 32 0 0.00 47 10 17.54 CRTC3 0 genome.wustl.edu 37 15 91169093 91169093 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 91169093 91169093 A T SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known missense c.835 p.N279Y 1.000 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 tier1 - - 551 0 0.00 416 94 18.43 CRYM 0 genome.wustl.edu 37 16 21273443 21273443 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 21273443 21273443 T C SNP CRYM ENST00000219599 human ensembl 74_37 -1 known missense c.710 p.D237G 1.000 pfam_ODC_Mu_crystall pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd - no_errors CRYM HGNC ENSG00000103316 tier1 - - 82 0 0.00 54 8 12.90 CSAG4 0 genome.wustl.edu 37 X 151896598 151896598 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 151896598 151896598 G A SNP CSAG4 ENST00000361201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC ENSG00000242599 tier1 - - 299 0 0.00 213 28 11.62 CSGALNACT1 0 genome.wustl.edu 37 8 19263296 19263296 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 19263296 19263296 T - DEL CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known frame_shift_del c.1594 p.T532fs 0.997 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 116 0 0.00 114 17 12.98 CSMD1 0 genome.wustl.edu 37 8 2820918 2820918 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 2820918 2820918 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known splice_site c.9284-1 e61-1 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 298 0 0.00 280 43 13.27 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 tier1 84 0 0.00 83 12 12.63 CSMD3 0 genome.wustl.edu 37 8 113504720 113504720 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 113504720 113504720 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5276 p.H1759R 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 138 0 0.00 131 8 5.71 CSRNP3 0 genome.wustl.edu 37 2 166536039 166536039 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 166536039 166536039 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1534 p.G512S 0.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 65 0 0.00 45 19 29.69 CST1 0 genome.wustl.edu 37 20 23729754 23729754 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 23729754 23729754 C - DEL CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 tier1 278 0 0.00 168 25 12.95 CTBP2 0 genome.wustl.edu 37 10 126715332 126715332 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 126715332 126715332 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.997 p.A333T 0.999 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 84 0 0.00 54 8 12.90 CTSA 0 genome.wustl.edu 37 20 44526408 44526409 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 44526408 44526409 - G INS CTSA ENST00000372484 human ensembl 74_37 +1 known frame_shift_ins c.1271_1272 p.D426fs 1.000:1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 tier1 162 0 0.00 112 20 15.15 CTSV 0 genome.wustl.edu 37 9 99800201 99800201 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 99800201 99800201 G A SNP CTSV ENST00000259470 human ensembl 74_37 -1 known missense c.125 p.A42V 0.001 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 tier1 rs192103728 - 142 0 0.00 108 14 11.48 CUBN 0 genome.wustl.edu 37 10 17151670 17151670 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 17151670 17151670 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.1080 p.C360 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 94 0 0.00 60 10 14.29 CXCR4 0 genome.wustl.edu 37 2 136872937 136872937 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 136872937 136872937 G A SNP CXCR4 ENST00000409817 human ensembl 74_37 -1 known silent c.573 p.D191 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 tier1 - - 123 0 0.00 73 21 22.34 CYLC2 0 genome.wustl.edu 37 9 105767708 105767708 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 105767708 105767708 G T SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.795 p.K265N 0.020 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 66 0 0.00 57 7 10.94 CYP27B1 0 genome.wustl.edu 37 12 58158323 58158323 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 58158323 58158323 G A SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.974 p.T325M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 tier1 - - 169 0 0.00 138 27 16.36 CYP2B6 0 genome.wustl.edu 37 19 41516003 41516003 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 41516003 41516003 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known silent c.927 p.Y309 0.979 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 tier1 - - 95 0 0.00 70 8 10.26 CYP2E1 0 genome.wustl.edu 37 10 135350628 135350628 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 135350628 135350628 T C SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known silent c.1029 p.D343 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 tier1 - - 87 0 0.00 68 20 22.73 CYP7A1 0 genome.wustl.edu 37 8 59410908 59410908 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 59410908 59410908 A 0 DEL CYP7A1 ENST00000301645 human ensembl 74_37 -1 known frame_shift_del c.201 p.F67fs 1.000 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 - no_errors CYP7A1 HGNC ENSG00000167910 223 0 0.00 169 12 6.63 CYTH2 0 genome.wustl.edu 37 19 48981328 48981328 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 48981328 48981328 G A SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known missense c.814 p.G272S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 tier1 - - 136 0 0.00 77 17 18.09 DAAM2 0 genome.wustl.edu 37 6 39864707 39864707 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39864707 39864707 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2461 p.R821W 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 DAAM2 HGNC ENSG00000146122 tier1 - - 82 0 0.00 70 8 10.26 DAAM2 0 genome.wustl.edu 37 6 39869787 39869787 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39869787 39869787 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.3181 p.R1061W 0.998 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 tier1 - - 75 0 0.00 48 8 14.29 DAB2IP 0 genome.wustl.edu 37 9 124535070 124535070 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 124535070 124535070 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.2263 p.R755C 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 41 0 0.00 26 4 13.33 DAOA 0 genome.wustl.edu 37 13 106142384 106142384 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 106142384 106142384 A G SNP DAOA ENST00000375936 human ensembl 74_37 +1 known missense c.416 p.D139G 0.001 NULL NULL - no_errors DAOA HGNC ENSG00000182346 tier1 - - 18 0 0.00 5 4 44.44 DAPK1 0 genome.wustl.edu 37 9 90321930 90321930 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 90321930 90321930 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.4019 p.R1340H 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 128 0 0.00 109 23 17.29 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 tier1 56 0 0.00 35 8 18.60 DBX2 0 genome.wustl.edu 37 12 45444700 45444700 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 45444700 45444700 C G SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known missense c.11 p.S4T 0.967 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 tier1 - - 15 0 0.00 4 4 50.00 DCAF12L1 0 genome.wustl.edu 37 X 125686355 125686355 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 125686355 125686355 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.237 p.A79 0.066 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 151 0 0.00 83 25 23.15 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 43 0 0.00 36 9 20.00 DCAF13 0 genome.wustl.edu 37 8 104442891 104442891 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 104442891 104442891 A G SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.1132 p.M378V 1.000 pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 154 0 0.00 128 32 20.00 DCST1 0 genome.wustl.edu 37 1 155014015 155014015 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155014015 155014015 G A SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.674 p.R225H 0.000 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 tier1 - - 136 0 0.00 83 20 19.42 DCTN5 0 genome.wustl.edu 37 16 23652886 23652888 + In_Frame_Del DEL ACA ACA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 23652886 23652888 ACA - DEL DCTN5 ENST00000300087 human ensembl 74_37 +1 known in_frame_del c.23_25 p.N9in_frame_del 1.000:1.000:1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN5 HGNC ENSG00000166847 tier1 79 0 0.00 49 8 14.04 DDAH2 0 genome.wustl.edu 37 6 31696720 31696720 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31696720 31696720 C T SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known silent c.219 p.P73 0.988 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 tier1 - - 89 0 0.00 69 22 24.18 DDB1 0 genome.wustl.edu 37 11 61093160 61093160 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61093160 61093160 C - DEL DDB1 ENST00000301764 human ensembl 74_37 -1 known frame_shift_del c.685 p.A229fs 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 tier1 29 0 0.00 16 6 27.27 DDB1 0 genome.wustl.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61094367 61094368 - G INS DDB1 ENST00000301764 human ensembl 74_37 -1 known splice_site_ins c.550-3_550-2 e5-2 1.000:0.070 - - - no_errors DDB1 HGNC ENSG00000167986 tier1 152 0 0.00 100 22 18.03 DDX18 0 genome.wustl.edu 37 2 118578756 118578756 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 118578756 118578756 G A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known silent c.534 p.S178 0.087 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 tier1 - - 60 0 0.00 32 12 27.27 DDX24 0 genome.wustl.edu 37 14 94546087 94546087 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 94546087 94546087 A G SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 tier1 - - 259 0 0.00 202 25 11.01 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 tier1 48 0 0.00 39 7 15.22 DECR2 0 genome.wustl.edu 37 16 457459 457459 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 457459 457459 G A SNP DECR2 ENST00000219481 human ensembl 74_37 +1 known missense c.236 p.R79H 0.686 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 tier1 - - 89 0 0.00 62 9 12.68 DEF6 0 genome.wustl.edu 37 6 35289041 35289041 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35289041 35289041 C T SNP DEF6 ENST00000316637 human ensembl 74_37 +1 known missense c.1750 p.R584C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 tier1 - - 313 0 0.00 216 38 14.90 DENND1C 0 genome.wustl.edu 37 19 6470366 6470366 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 6470366 6470366 G A SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.1302 p.G434 0.786 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 tier1 - - 34 0 0.00 10 10 50.00 DENND1C 0 genome.wustl.edu 37 19 6479033 6479033 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 6479033 6479033 A G SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.211 p.F71L 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 tier1 - - 252 0 0.00 175 20 10.26 DENND5A 0 genome.wustl.edu 37 11 9215216 9215216 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 9215216 9215216 A G SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.962 p.L321P 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 tier1 - - 56 0 0.00 61 12 16.44 DENND6B 0 genome.wustl.edu 37 22 50754805 50754805 + Nonsense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50754805 50754805 C A SNP DENND6B ENST00000413817 human ensembl 74_37 -1 known nonsense c.553 p.E185* 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 tier1 - - 19 0 0.00 5 8 61.54 DHTKD1 0 genome.wustl.edu 37 10 12136229 12136229 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 12136229 12136229 T C SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known silent c.1317 p.D439 0.989 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 tier1 - - 62 0 0.00 70 7 8.86 DHX16 0 genome.wustl.edu 37 6 30623093 30623094 + Frame_Shift_Del DEL AG AG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30623093 30623094 AG - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.2682_2681 p.S894fs 0.997:1.000 superfamily_P-loop_NTPase pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 tier1 132 0 0.00 105 22 17.32 DHX34 0 genome.wustl.edu 37 19 47884214 47884214 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47884214 47884214 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.3124 p.A1042T 0.001 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 tier1 rs148368794 - 82 0 0.00 58 14 19.44 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 tier1 53 0 0.00 25 8 24.24 DHX9 0 genome.wustl.edu 37 1 182849650 182849650 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 182849650 182849650 C T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.2531 p.A844V 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 89 0 0.00 62 7 10.14 DICER1 0 genome.wustl.edu 37 14 95569830 95569830 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 95569830 95569830 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known silent c.3903 p.L1301 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 105 0 0.00 69 12 14.81 DIRC2 0 genome.wustl.edu 37 3 122552268 122552268 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 122552268 122552268 C T SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known missense c.808 p.R270W 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 tier1 - - 147 0 0.00 118 7 5.60 DISC1 0 genome.wustl.edu 37 1 231885809 231885809 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 231885809 231885809 G - DEL DISC1 ENST00000439617 human ensembl 74_37 +1 known frame_shift_del c.1255 p.A420fs 0.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 113 0 0.00 82 13 13.68 DISP1 0 genome.wustl.edu 37 1 223177026 223177026 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 223177026 223177026 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2287 p.R763C 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 tier1 - - 95 0 0.00 64 13 16.88 DLEC1 0 genome.wustl.edu 37 3 38163248 38163248 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 38163248 38163248 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known nonsense c.4996 p.R1666* 0.404 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 rs201864897 - 113 0 0.00 88 5 5.38 DMAP1 0 genome.wustl.edu 37 1 44685902 44685902 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 44685902 44685902 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.1265 p.A422V 0.998 NULL pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 tier1 - - 31 0 0.00 27 7 20.59 DMRTB1 0 genome.wustl.edu 37 1 53925243 53925243 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 53925243 53925243 G A SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known silent c.117 p.K39 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 18 0 0.00 19 6 24.00 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 51 0 0.00 47 5 9.62 DNAH1 0 genome.wustl.edu 37 3 52416377 52416377 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52416377 52416377 A G SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.7847 p.Y2616C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 275 0 0.00 208 20 8.77 DNAH17 0 genome.wustl.edu 37 17 76471926 76471926 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76471926 76471926 A - DEL DNAH17 ENST00000586052 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH17 HGNC ENSG00000187775 tier1 37 0 0.00 29 11 27.50 DNAH3 0 genome.wustl.edu 37 16 20975852 20975852 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 20975852 20975852 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.9354 p.A3118 0.040 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 256 0 0.00 169 38 18.36 DNAJC27 0 genome.wustl.edu 37 2 25180758 25180758 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 25180758 25180758 G A SNP DNAJC27 ENST00000264711 human ensembl 74_37 -1 known missense c.326 p.A109V 0.550 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 tier1 - - 118 0 0.00 87 17 16.35 DNMBP 0 genome.wustl.edu 37 10 101656145 101656145 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 101656145 101656145 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3002 p.Y1001C 1.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 176 0 0.00 116 19 14.07 DOCK1 0 genome.wustl.edu 37 10 128860006 128860006 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 128860006 128860006 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.2348 p.M783T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 15 0 0.00 11 2 15.38 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 93 0 0.00 60 6 9.09 DOCK3 0 genome.wustl.edu 37 3 51418535 51418535 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 51418535 51418535 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.5638 p.G1880S 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 200 0 0.00 139 25 15.24 DOPEY1 0 genome.wustl.edu 37 6 83849979 83849979 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 83849979 83849979 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.5272 p.R1758C 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 112 0 0.00 84 21 20.00 DPF2 0 genome.wustl.edu 37 11 65113757 65113757 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65113757 65113757 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known missense c.944 p.A315V 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 tier1 - - 88 0 0.00 61 16 20.78 DPP4 0 genome.wustl.edu 37 2 162929958 162929958 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 162929958 162929958 A G SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known silent c.45 p.A15 0.970 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 tier1 - - 148 0 0.00 98 7 6.67 DPP7 0 genome.wustl.edu 37 9 140006327 140006327 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140006327 140006327 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.1205 p.G402fs 0.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 tier1 42 0 0.00 32 11 25.58 DPP9 0 genome.wustl.edu 37 19 4704208 4704208 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 4704208 4704208 G T SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.535 p.L179I 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 tier1 - - 128 0 0.00 77 16 17.20 DPPA3 0 genome.wustl.edu 37 12 7867837 7867837 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 7867837 7867837 C T SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known silent c.141 p.N47 0.007 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 tier1 - - 116 0 0.00 81 27 25.00 DPYD 0 genome.wustl.edu 37 1 97658740 97658740 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 97658740 97658740 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2507 p.A836V 1.000 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 49 0 0.00 40 5 11.11 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 278 0 0.00 209 25 10.68 DPYD 0 genome.wustl.edu 37 1 97915675 97915675 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 97915675 97915675 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known silent c.1845 p.E615 0.989 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 132 0 0.00 81 21 20.59 DST 0 genome.wustl.edu 37 6 56391227 56391227 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 56391227 56391227 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.17968 p.R5990* 0.995 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 - - 131 0 0.00 93 29 23.77 DST 0 genome.wustl.edu 37 6 56392463 56392463 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 56392463 56392463 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17657 p.L5886R 0.801 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 - - 42 0 0.00 32 4 11.11 DST 0 genome.wustl.edu 37 6 56499277 56499277 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 56499277 56499277 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.3378 p.A1126 0.114 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 rs201509973 - 110 0 0.00 62 20 24.39 DSTYK 0 genome.wustl.edu 37 1 205156906 205156906 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 205156906 205156906 A G SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known silent c.294 p.P98 0.340 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 DSTYK HGNC ENSG00000133059 tier1 - - 38 0 0.00 32 6 15.79 DTX2 0 genome.wustl.edu 37 7 76111866 76111866 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 76111866 76111866 T G SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.310 p.S104A 0.988 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 136 0 0.00 91 10 9.90 DUSP22 0 genome.wustl.edu 37 6 348269 348269 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 348269 348269 C A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.430 p.H144N 0.085 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 tier1 - - 146 0 0.00 99 9 8.33 DYNC1H1 0 genome.wustl.edu 37 14 102516130 102516130 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 102516130 102516130 A C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.13595 p.N4532T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 67 0 0.00 59 11 15.71 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL 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 28 0 0.00 19 5 20.83 DYSF 0 genome.wustl.edu 37 2 71825816 71825816 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 71825816 71825816 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3736 p.A1246T 0.001 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 87 0 0.00 46 10 17.86 EAF2 0 genome.wustl.edu 37 3 121573659 121573659 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 121573659 121573659 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.327 p.T112fs 0.970 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 tier1 87 0 0.00 63 13 17.11 EBAG9 0 genome.wustl.edu 37 8 110566971 110566971 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 110566971 110566971 A T SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known missense c.176 p.E59V 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 tier1 - - 104 0 0.00 93 11 10.58 ECM1 0 genome.wustl.edu 37 1 150483523 150483523 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150483523 150483523 A C SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.638 p.Q213P 0.127 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 tier1 - - 387 0 0.00 252 52 17.11 EDC4 0 genome.wustl.edu 37 16 67912921 67912921 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67912921 67912921 T A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.1349 p.I450N 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 78 0 0.00 59 20 25.32 EEF1A2 0 genome.wustl.edu 37 20 62120306 62120306 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62120306 62120306 A G SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.1229 p.M410T 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 tier1 - - 50 0 0.00 33 7 17.50 EFNB2 0 genome.wustl.edu 37 13 107145763 107145763 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 107145763 107145763 G A SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known silent c.627 p.D209 0.991 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 tier1 - - 132 0 0.00 86 5 5.49 EFNB3 0 genome.wustl.edu 37 17 7611436 7611436 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7611436 7611436 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.283 p.P96fs 0.825 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 tier1 214 0 0.00 173 45 20.64 EFTUD1P1 0 genome.wustl.edu 37 15 84770892 84770892 + RNA SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 84770892 84770892 T C SNP EFTUD1P1 ENST00000558187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 tier1 - - 70 0 0.00 42 15 26.32 EFTUD2 0 genome.wustl.edu 37 17 42940103 42940103 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 42940103 42940103 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.1585 p.R529C 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 37 0 0.00 34 3 8.11 EGFR 0 genome.wustl.edu 37 7 55224230 55224230 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 55224230 55224230 T C SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1011 p.C337 0.989 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 178 0 0.00 118 26 18.06 EHBP1L1 0 genome.wustl.edu 37 11 65349628 65349628 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65349628 65349628 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known silent c.1485 p.L495 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 tier1 - - 36 0 0.00 29 8 21.62 EHD3 0 genome.wustl.edu 37 2 31483592 31483593 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 31483592 31483593 - G INS EHD3 ENST00000322054 human ensembl 74_37 +1 known frame_shift_ins c.719_720 p.K242fs 1.000:1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 tier1 97 0 0.00 69 16 18.82 EIF2B4 0 genome.wustl.edu 37 2 27587323 27587323 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27587323 27587323 T C SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.1516 p.M506V 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 tier1 - - 72 0 0.00 56 9 13.85 EIF4G3 0 genome.wustl.edu 37 1 21154129 21154129 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 21154129 21154129 T C SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.4100 p.H1367R 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 tier1 - - 64 0 0.00 35 18 33.96 EIF5B 0 genome.wustl.edu 37 2 100015270 100015270 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 100015270 100015270 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.3453 p.G1154fs 0.958 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 35 0 0.00 33 9 21.43 ELF4 0 genome.wustl.edu 37 X 129201458 129201458 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 129201458 129201458 G - DEL ELF4 ENST00000308167 human ensembl 74_37 -1 known frame_shift_del c.1230 p.V411fs 0.001 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 tier1 208 0 0.00 137 18 11.61 ELFN2 0 genome.wustl.edu 37 22 37770353 37770353 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 37770353 37770353 T C SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1222 p.M408V 1.000 pfscan_LPXTG_anchor superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 137 0 0.00 118 24 16.90 ELK1 0 genome.wustl.edu 37 X 47498579 47498579 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 47498579 47498579 T C SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known silent c.369 p.P123 0.004 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 24 0 0.00 17 3 15.00 ELL2 0 genome.wustl.edu 37 5 95297410 95297411 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 95297410 95297411 - C INS ELL2 ENST00000237853 human ensembl 74_37 -1 known frame_shift_ins c.16_15 p.T5fs 0.997:1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 tier1 48 0 0.00 26 4 13.33 ELMSAN1 0 genome.wustl.edu 37 14 74194173 74194173 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 74194173 74194173 A G SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2150 p.V717A 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 105 0 0.00 72 8 10.00 ELOF1 0 genome.wustl.edu 37 19 11664579 11664579 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11664579 11664579 G A SNP ELOF1 ENST00000252445 human ensembl 74_37 -1 known silent c.234 p.C78 0.995 pfam_Elf1 pfam_Elf1 - no_errors ELOF1 HGNC ENSG00000130165 tier1 rs139453256 - 119 0 0.00 103 22 17.60 EML1 0 genome.wustl.edu 37 14 100402386 100402386 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 100402386 100402386 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1987 p.G663C 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 111 0 0.00 86 6 6.52 EML3 0 genome.wustl.edu 37 11 62374436 62374436 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62374436 62374436 C T SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1498 p.A500T 1.000 superfamily_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 tier1 - - 103 0 0.00 63 17 21.25 EML3 0 genome.wustl.edu 37 11 62374502 62374502 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62374502 62374502 A G SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1432 p.S478P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 tier1 - - 128 0 0.00 70 13 15.66 EMR4P 0 genome.wustl.edu 37 19 6974622 6974622 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 6974622 6974622 A - DEL EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMR4P HGNC ENSG00000268758 tier1 19 0 0.00 17 4 19.05 ENDOU 0 genome.wustl.edu 37 12 48104614 48104614 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 48104614 48104614 C T SNP ENDOU ENST00000229003 human ensembl 74_37 -1 known missense c.1081 p.A361T 1.000 NULL pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 tier1 - - 155 0 0.00 88 36 29.03 ENKD1 0 genome.wustl.edu 37 16 67699032 67699032 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67699032 67699032 C A SNP ENKD1 ENST00000243878 human ensembl 74_37 -1 known missense c.320 p.R107L 1.000 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 tier1 - - 467 0 0.00 339 64 15.88 ENPP2 0 genome.wustl.edu 37 8 120594822 120594822 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 120594822 120594822 C T SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.1720 p.A574T 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 tier1 - - 274 0 0.00 239 36 13.09 ENSG00000224666 0 genome.wustl.edu 37 6 36359695 36359698 + RNA DEL TTTA TTTA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTTA TTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 36359695 36359698 TTTA - DEL ENSG00000224666 ENST00000411643 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.002:0.005 - - - no_errors RP1-50J22.4 Clone_based_vega_gene ENSG00000224666 tier1 35 0 0.00 20 5 20.00 ENSG00000227304 0 genome.wustl.edu 37 4 83416046 83416046 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 83416046 83416046 G A SNP ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 tier1 - - 45 0 0.00 36 10 21.74 ENSG00000228192 0 genome.wustl.edu 37 1 43302815 43302815 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43302815 43302815 C T SNP ENSG00000228192 ENST00000416809 human ensembl 74_37 -1 known rna NULL NULL 0.262 - - - no_errors RP11-342M1.3 Clone_based_vega_gene ENSG00000228192 tier1 - - 83 0 0.00 61 8 11.59 ENSG00000231092 0 genome.wustl.edu 37 2 217124439 217124439 + RNA SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 217124439 217124439 G T SNP ENSG00000231092 ENST00000417481 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012513.6 Clone_based_vega_gene ENSG00000231092 tier1 - - 37 0 0.00 17 11 39.29 ENSG00000234719 0 genome.wustl.edu 37 16 12027566 12027566 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 12027566 12027566 A G SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.296 p.L99P 0.389 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 tier1 - - 151 0 0.00 113 17 13.08 ENSG00000234864 0 genome.wustl.edu 37 10 43199667 43199668 + RNA DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 43199667 43199668 AA - DEL ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 49 0 0.00 42 9 17.65 ENSG00000249494 0 genome.wustl.edu 37 5 118347673 118347673 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 118347673 118347673 T - DEL ENSG00000249494 ENST00000504820 human ensembl 74_37 -1 known rna NULL NULL 0.175 - - - no_errors CTB-161M19.4 Clone_based_vega_gene ENSG00000249494 tier1 57 0 0.00 58 10 14.71 ENSG00000253722 0 genome.wustl.edu 37 8 94745548 94745548 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 94745548 94745548 A - DEL ENSG00000253722 ENST00000517998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10N23.4 Clone_based_vega_gene ENSG00000253722 tier1 13 0 0.00 11 5 31.25 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 33 0 0.00 22 14 38.89 ENSG00000255168 0 genome.wustl.edu 37 1 145281636 145281636 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 145281636 145281636 C T SNP ENSG00000255168 ENST00000468030 human ensembl 74_37 +1 known missense c.566 p.S189L 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors RP11-458D21.5 Clone_based_vega_gene ENSG00000255168 tier1 - - 246 0 0.00 231 19 7.60 ENSG00000258843 0 genome.wustl.edu 37 14 51290059 51290059 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 51290059 51290059 A - DEL ENSG00000258843 ENST00000555966 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-286O18.1 Clone_based_vega_gene ENSG00000258843 tier1 42 0 0.00 31 8 20.51 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987962 + RNA DEL AAA AAA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 51987960 51987962 AAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 tier1 13 0 0.00 8 6 42.86 ENSG00000259966 0 genome.wustl.edu 37 16 32621755 32621755 + RNA SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 32621755 32621755 G T SNP ENSG00000259966 ENST00000566952 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 127 0 0.00 112 14 11.11 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861903 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 21861903 21861903 T - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 tier1 50 0 0.00 33 15 31.25 ENSG00000271554 0 genome.wustl.edu 37 1 36475026 36475027 + RNA INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36475026 36475027 - A INS ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.026:0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 tier1 35 0 0.00 33 8 19.51 ENSG00000273455 0 genome.wustl.edu 37 3 135806703 135806703 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 135806703 135806703 T - DEL ENSG00000273455 ENST00000608883 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-305O4.3 Clone_based_vega_gene ENSG00000273455 tier1 46 0 0.00 30 9 23.08 ENTHD1 0 genome.wustl.edu 37 22 40161237 40161237 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 40161237 40161237 T C SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1210 p.T404A 0.001 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 16 0 0.00 13 4 23.53 EP300 0 genome.wustl.edu 37 22 41574565 41574565 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 41574565 41574565 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.6850 p.M2284V 1.000 NULL 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 - - 164 0 0.00 135 10 6.90 EP400 0 genome.wustl.edu 37 12 132547096 132547096 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 132547096 132547096 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8292 p.Q2764 0.957 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs74479394 - 98 0 0.00 52 20 27.78 EP400 0 genome.wustl.edu 37 12 132547099 132547099 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 132547099 132547099 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8295 p.Q2765 0.987 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs145603866 - 101 0 0.00 64 8 10.96 EP400 0 genome.wustl.edu 37 12 132547102 132547102 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 132547102 132547102 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8298 p.Q2766 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs138126821 - 96 0 0.00 67 6 8.22 EPB41 0 genome.wustl.edu 37 1 29379716 29379717 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 29379716 29379717 - A INS EPB41 ENST00000343067 human ensembl 74_37 +1 known frame_shift_ins c.1737_1738 p.T581fs 0.371:0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 tier1 78 0 0.00 67 12 15.19 EPB41L2 0 genome.wustl.edu 37 6 131222276 131222276 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 131222276 131222276 C T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.974 p.R325H 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 - - 167 0 0.00 97 14 12.61 EPB41L3 0 genome.wustl.edu 37 18 5397249 5397249 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 5397249 5397249 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2649 p.Q883H 0.997 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 160 0 0.00 120 18 13.04 EPG5 0 genome.wustl.edu 37 18 43469927 43469927 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 43469927 43469927 A - DEL EPG5 ENST00000587973 human ensembl 74_37 -1 known rna NULL NULL 0.238 - - - no_errors EPG5 HGNC ENSG00000152223 tier1 56 0 0.00 21 8 27.59 EPG5 0 genome.wustl.edu 37 18 43496050 43496050 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 43496050 43496050 A G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.3506 p.M1169T 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 52 0 0.00 58 10 14.71 EPHA1 0 genome.wustl.edu 37 7 143098453 143098453 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 143098453 143098453 A C SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.396 p.D132E 0.973 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA1 HGNC ENSG00000146904 tier1 - - 209 0 0.00 164 28 14.58 EPHA6 0 genome.wustl.edu 37 3 96533505 96533505 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 96533505 96533505 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.38 p.P13L 0.978 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 108 0 0.00 68 10 12.82 EPHA7 0 genome.wustl.edu 37 6 94120695 94120695 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 94120695 94120695 C A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.356 p.C119F 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 151 0 0.00 88 16 15.38 EPHB1 0 genome.wustl.edu 37 3 134670658 134670658 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 134670658 134670658 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.569 p.R190H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 338 0 0.00 251 16 5.99 EPHB6 0 genome.wustl.edu 37 7 142561448 142561448 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 142561448 142561448 G - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.160 p.W56fs 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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,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 EPHB6 HGNC ENSG00000106123 tier1 102 0 0.00 61 10 14.08 EPHX1 0 genome.wustl.edu 37 1 226027728 226027728 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 226027728 226027728 T C SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known silent c.921 p.P307 0.011 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 57 0 0.00 54 3 5.26 EPO 0 genome.wustl.edu 37 7 100320671 100320671 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100320671 100320671 G A SNP EPO ENST00000252723 human ensembl 74_37 +1 known missense c.497 p.R166H 0.529 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn - no_errors EPO HGNC ENSG00000130427 tier1 - - 247 0 0.00 180 28 13.46 EPS15L1 0 genome.wustl.edu 37 19 16495978 16495978 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 16495978 16495978 T C SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.2209 p.S737G 0.435 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 263 0 0.00 193 41 17.52 ERBB2 0 genome.wustl.edu 37 17 37879601 37879601 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 37879601 37879601 T A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1976 p.V659D 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 209 0 0.00 215 19 8.12 ERBB2 0 genome.wustl.edu 37 17 37881392 37881392 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 37881392 37881392 A G SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2584 p.T862A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 106 0 0.00 116 7 5.69 ERBB2 0 genome.wustl.edu 37 17 37883212 37883212 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 37883212 37883212 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.3115 p.A1039T 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 210 0 0.00 204 13 5.99 ERBB2IP 0 genome.wustl.edu 37 5 65320161 65320161 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 65320161 65320161 T C SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.700 p.Y234H 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 87 0 0.00 57 18 24.00 ERBB3 0 genome.wustl.edu 37 12 56489493 56489493 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56489493 56489493 T A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1958 p.V653E 0.001 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 148 0 0.00 104 17 13.93 ERBB3 0 genome.wustl.edu 37 12 56492321 56492321 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56492321 56492321 T C SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.2654 p.F885S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 143 0 0.00 95 8 7.77 ERC2 0 genome.wustl.edu 37 3 56207547 56207547 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 56207547 56207547 T G SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1076 p.E359A 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 87 0 0.00 58 8 12.12 ERCC2 0 genome.wustl.edu 37 19 45868176 45868176 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 45868176 45868176 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.514 p.A172T 0.015 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 tier1 rs140175332 - 59 0 0.00 34 15 30.61 ERCC6 0 genome.wustl.edu 37 10 50732704 50732704 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 50732704 50732704 T C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.772 p.K258E 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 229 0 0.00 146 36 19.78 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 tier1 40 0 0.00 28 5 15.15 ESPL1 0 genome.wustl.edu 37 12 53666523 53666523 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 53666523 53666523 T A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known nonsense c.1388 p.L463* 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 561 0 0.00 412 105 20.31 ESR2 0 genome.wustl.edu 37 14 64727199 64727199 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 64727199 64727199 A G SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.920 p.V307A 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 tier1 - - 303 0 0.00 230 51 18.09 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 94 0 0.00 92 17 15.60 ETV4 0 genome.wustl.edu 37 17 41606991 41606991 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 41606991 41606991 G A SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1009 p.R337C 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 tier1 - - 202 0 0.00 137 48 25.95 EXD3 0 genome.wustl.edu 37 9 140289760 140289760 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140289760 140289760 C T SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.50 p.R17H 0.002 NULL pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 102 0 0.00 137 14 9.27 EXOSC10 0 genome.wustl.edu 37 1 11147582 11147582 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 11147582 11147582 A C SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1012 p.F338V 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 tier1 - - 300 0 0.00 235 69 22.62 EYA4 0 genome.wustl.edu 37 6 133783496 133783496 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 133783496 133783496 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.461 p.T154I 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 236 0 0.00 148 32 17.78 EYS 0 genome.wustl.edu 37 6 66205064 66205064 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 66205064 66205064 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.240 p.L80 1.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 176 0 0.00 115 20 14.81 F2 0 genome.wustl.edu 37 11 46760822 46760822 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 46760822 46760822 T G SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1733 p.F578C 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 - - 126 0 0.00 105 13 11.02 F3 0 genome.wustl.edu 37 1 95001576 95001576 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 95001576 95001576 A C SNP F3 ENST00000334047 human ensembl 74_37 -1 known silent c.357 p.G119 0.000 superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC ENSG00000117525 tier1 - - 241 0 0.00 187 14 6.97 FADS3 0 genome.wustl.edu 37 11 61647523 61647523 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61647523 61647523 C T SNP FADS3 ENST00000278829 human ensembl 74_37 -1 known missense c.314 p.G105E 0.996 superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 tier1 - - 74 0 0.00 49 10 16.95 FAM111B 0 genome.wustl.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 58892377 58892377 A - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807 p.K272fs 0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 tier1 74 0 0.00 54 10 15.62 FAM129A 0 genome.wustl.edu 37 1 184792782 184792782 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 184792782 184792782 G A SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.812 p.T271M 1.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 rs145818889 - 69 0 0.00 65 11 14.47 FAM135B 0 genome.wustl.edu 37 8 139323158 139323158 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 139323158 139323158 T C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.83 p.Y28C 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 54 0 0.00 61 20 24.69 FAM154B 0 genome.wustl.edu 37 15 82564107 82564107 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 82564107 82564107 A - DEL FAM154B ENST00000339465 human ensembl 74_37 +1 known frame_shift_del c.217 p.G75fs 0.020 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 tier1 86 0 0.00 67 13 16.25 FAM155A 0 genome.wustl.edu 37 13 108518531 108518531 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 108518531 108518531 G A SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known silent c.414 p.G138 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 52 0 0.00 30 4 11.76 FAM160A2 0 genome.wustl.edu 37 11 6245066 6245066 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6245066 6245066 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.551 p.C184Y 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 120 0 0.00 78 24 23.53 FAM160B2 0 genome.wustl.edu 37 8 21955612 21955612 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 21955612 21955612 G A SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.559 p.G187R 0.001 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 tier1 - - 14 0 0.00 18 5 21.74 FAM166A 0 genome.wustl.edu 37 9 140139126 140139126 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140139126 140139126 T A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.715 p.M239L 0.161 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 tier1 - - 45 0 0.00 22 6 20.69 FAM166A 0 genome.wustl.edu 37 9 140139562 140139562 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140139562 140139562 T A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.631 p.I211F 0.994 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 tier1 - - 236 0 0.00 172 35 16.91 FAM184A 0 genome.wustl.edu 37 6 119301423 119301423 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 119301423 119301423 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known silent c.2181 p.Q727 0.977 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 75 0 0.00 37 7 15.91 FAM186B 0 genome.wustl.edu 37 12 49996976 49996976 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49996976 49996976 C T SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.497 p.R166K 0.010 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 tier1 - - 74 0 0.00 50 16 24.24 FAM188B 0 genome.wustl.edu 37 7 30921892 30921892 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 30921892 30921892 C T SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.2068 p.R690C 0.019 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 tier1 - - 91 0 0.00 56 11 16.42 FAM193A 0 genome.wustl.edu 37 4 2695450 2695450 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 2695450 2695450 T C SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.2068 p.S690P 0.951 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 - - 287 0 0.00 223 26 10.40 FAM206A 0 genome.wustl.edu 37 9 111698607 111698607 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 111698607 111698607 G A SNP FAM206A ENST00000322940 human ensembl 74_37 +1 known missense c.151 p.A51T 1.000 superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif - no_errors FAM206A HGNC ENSG00000119328 tier1 - - 120 0 0.00 75 13 14.77 FAM21A 0 genome.wustl.edu 37 10 51853638 51853639 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 51853638 51853639 0 C INS FAM21A ENST00000282633 human ensembl 74_37 +1 known frame_shift_ins c.1141_1142 p.Q383fs 0.835:0.854 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 12 0 0.00 8 3 27.27 FAM26E 0 genome.wustl.edu 37 6 116836954 116836954 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 116836954 116836954 T - DEL FAM26E ENST00000368599 human ensembl 74_37 +1 known frame_shift_del c.732 p.F246fs 1.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 tier1 133 0 0.00 100 11 9.91 FAM58A 0 genome.wustl.edu 37 X 152861628 152861628 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 152861628 152861628 G A SNP FAM58A ENST00000406277 human ensembl 74_37 -1 known missense c.124 p.R42W 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 tier1 - - 149 0 0.00 106 12 10.08 FAM63A 0 genome.wustl.edu 37 1 150971953 150971953 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150971953 150971953 C T SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known silent c.1017 p.A339 0.072 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 tier1 - - 260 0 0.00 184 32 14.81 FAM69B 0 genome.wustl.edu 37 9 139617940 139617940 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139617940 139617940 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.1010 p.S337N 0.779 pfam_FAM69_kinase_dom pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 tier1 - - 26 0 0.00 17 5 22.73 FAM71A 0 genome.wustl.edu 37 1 212798505 212798505 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 212798505 212798505 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.286 p.E96K 0.006 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 tier1 - - 68 0 0.00 45 7 13.46 FAM83E 0 genome.wustl.edu 37 19 49116448 49116448 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49116448 49116448 G A SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.182 p.A61V 0.000 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 73 0 0.00 60 4 6.25 FAM83F 0 genome.wustl.edu 37 22 40417669 40417670 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 40417669 40417670 - C INS FAM83F ENST00000333407 human ensembl 74_37 +1 known frame_shift_ins c.1155_1156 p.V387fs 0.968:1.000 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 tier1 80 0 0.00 59 10 14.49 FAN1 0 genome.wustl.edu 37 15 31197927 31197927 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 31197927 31197927 G A SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.1061 p.S354N 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 tier1 - - 152 0 0.00 110 19 14.73 FANCD2 0 genome.wustl.edu 37 3 10133910 10133910 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10133910 10133910 T C SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.3823 p.F1275L 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 - - 278 0 0.00 190 39 17.03 FANCG 0 genome.wustl.edu 37 9 35077352 35077352 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35077352 35077352 A G SNP FANCG ENST00000378643 human ensembl 74_37 -1 known silent c.555 p.S185 0.006 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 tier1 - - 182 0 0.00 140 30 17.65 FASN 0 genome.wustl.edu 37 17 80043164 80043165 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80043164 80043165 - G INS FASN ENST00000306749 human ensembl 74_37 -1 known frame_shift_ins c.4237_4236 p.I1412fs 0.020:0.038 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 32 0 0.00 45 9 16.67 FAT1 0 genome.wustl.edu 37 4 187539921 187539921 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 187539921 187539921 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.7819 p.S2607P 0.939 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 66 0 0.00 31 6 16.22 FAT2 0 genome.wustl.edu 37 5 150914046 150914046 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 150914046 150914046 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.9351 p.H3117 0.995 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 35 0 0.00 44 8 15.38 FAU 0 genome.wustl.edu 37 11 64888221 64888221 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64888221 64888221 A G SNP FAU ENST00000527548 human ensembl 74_37 -1 known missense c.334 p.Y112H 1.000 pfam_Ribosomal_S30 pfam_Ribosomal_S30,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors FAU HGNC ENSG00000149806 tier1 - - 160 0 0.00 135 13 8.78 FBN2 0 genome.wustl.edu 37 5 127782174 127782174 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 127782174 127782174 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.952 p.D318Y 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 128 0 0.00 68 15 18.07 FBN3 0 genome.wustl.edu 37 19 8175836 8175836 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 8175836 8175836 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.4226 p.A1409V 0.412 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 117 0 0.00 76 24 24.00 FBXO11 0 genome.wustl.edu 37 2 48046160 48046160 + Nonsense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 48046160 48046160 C A SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known nonsense c.1855 p.G619* 1.000 superfamily_F-box_dom,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 tier1 - - 113 0 0.00 103 11 9.65 FBXO18 0 genome.wustl.edu 37 10 5969498 5969498 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 5969498 5969498 G T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.2976 p.L992F 1.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 85 0 0.00 51 5 8.93 FBXO24 0 genome.wustl.edu 37 7 100193217 100193217 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100193217 100193217 G A SNP FBXO24 ENST00000360609 human ensembl 74_37 +1 known nonsense c.930 p.W310* 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO24 HGNC ENSG00000106336 tier1 - - 126 0 0.00 90 13 12.62 FBXO46 0 genome.wustl.edu 37 19 46215461 46215461 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 46215461 46215461 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1293 p.A431 0.003 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 tier1 - - 35 0 0.00 24 6 20.00 FBXW12 0 genome.wustl.edu 37 3 48436037 48436037 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48436037 48436037 T C SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known silent c.1308 p.S436 0.000 NULL pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 tier1 - - 73 0 0.00 65 8 10.96 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 280 0 0.00 171 37 17.70 FECH 0 genome.wustl.edu 37 18 55247367 55247367 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 55247367 55247367 G T SNP FECH ENST00000382873 human ensembl 74_37 -1 known silent c.132 p.A44 0.000 NULL pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 tier1 - - 118 0 0.00 112 8 6.67 FEN1 0 genome.wustl.edu 37 11 61563408 61563408 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61563408 61563408 G A SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known missense c.575 p.R192Q 1.000 pfam_XPG-I_dom,smart_XPG-I_dom pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 tier1 rs4989586 - 92 0 0.00 80 20 20.00 FER1L6 0 genome.wustl.edu 37 8 125029888 125029888 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 125029888 125029888 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.1943 p.K650fs 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 130 0 0.00 86 11 11.34 FGD1 0 genome.wustl.edu 37 X 54496632 54496632 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 54496632 54496632 G - DEL FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_del c.918 p.S307fs 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 tier1 36 0 0.00 18 8 30.77 FGD5 0 genome.wustl.edu 37 3 14940282 14940282 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 14940282 14940282 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3103 p.R1035W 0.993 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 - - 11 0 0.00 9 4 30.77 FGD6 0 genome.wustl.edu 37 12 95535227 95535228 + In_Frame_Ins INS - - AGT TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 95535227 95535228 - AGT INS FGD6 ENST00000343958 human ensembl 74_37 -1 known in_frame_ins c.2774_2773 p.925in_frame_insY 1.000:0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 tier1 104 0 0.00 86 12 12.24 FGFBP1 0 genome.wustl.edu 37 4 15938178 15938179 + Frame_Shift_Del DEL TT TT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 15938178 15938179 TT - DEL FGFBP1 ENST00000259988 human ensembl 74_37 -1 known frame_shift_del c.78_77 p.K26fs 0.001:0.000 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 tier1 157 0 0.00 102 21 17.07 FGFR4 0 genome.wustl.edu 37 5 176518710 176518710 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176518710 176518710 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.628 p.V210M 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 84 0 0.00 53 13 19.70 FHDC1 0 genome.wustl.edu 37 4 153897640 153897640 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 153897640 153897640 A T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.3197 p.Q1066L 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 tier1 - - 150 0 0.00 101 20 16.53 FHL1 0 genome.wustl.edu 37 X 135290723 135290723 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 135290723 135290723 A C SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.611 p.E204A 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 tier1 - - 511 0 0.00 389 51 11.59 FKBP7 0 genome.wustl.edu 37 2 179330469 179330469 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 179330469 179330469 A - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 tier1 28 0 0.00 22 9 29.03 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250363 + RNA DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 40250362 40250363 AA - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 tier1 25 0 0.00 13 6 31.58 FLOT2 0 genome.wustl.edu 37 17 27210148 27210148 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 27210148 27210148 C A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.324 p.E108D 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 tier1 - - 133 0 0.00 91 13 12.50 FLYWCH2 0 genome.wustl.edu 37 16 2949098 2949098 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2949098 2949098 C T SNP FLYWCH2 ENST00000293981 human ensembl 74_37 +1 known missense c.371 p.A124V 0.000 NULL NULL - no_errors FLYWCH2 HGNC ENSG00000162076 tier1 - - 72 0 0.00 45 6 11.76 FNIP1 0 genome.wustl.edu 37 5 131007941 131007941 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 131007941 131007941 T - DEL FNIP1 ENST00000510461 human ensembl 74_37 -1 known frame_shift_del c.2196 p.K732fs 0.994 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 tier1 211 0 0.00 175 20 10.26 FOPNL 0 genome.wustl.edu 37 16 15978017 15978017 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 15978017 15978017 T G SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known missense c.74 p.K25T 1.000 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 tier1 - - 76 0 0.00 67 11 14.10 FOXN2 0 genome.wustl.edu 37 2 48589834 48589834 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 48589834 48589834 C T SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known nonsense c.691 p.R231* 0.988 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 tier1 - - 100 0 0.00 71 11 13.41 FOXP1 0 genome.wustl.edu 37 3 71008342 71008344 + RNA DEL TTT TTT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 71008342 71008344 TTT - DEL FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.439:0.024:0.024 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 63 0 0.00 48 6 11.11 FOXP4 0 genome.wustl.edu 37 6 41557870 41557870 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 41557870 41557870 G A SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.1319 p.R440Q 0.995 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 tier1 - - 99 0 0.00 83 16 16.16 FOXR1 0 genome.wustl.edu 37 11 118851386 118851386 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 118851386 118851386 C T SNP FOXR1 ENST00000317011 human ensembl 74_37 +1 known silent c.798 p.R266 0.011 pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 tier1 - - 79 0 0.00 60 15 20.00 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74797186 74797186 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 74797186 74797186 T - DEL FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known frame_shift_del c.839 p.F282fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 24 0 0.00 15 4 21.05 FRY 0 genome.wustl.edu 37 13 32823682 32823682 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 32823682 32823682 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.7028 p.R2343Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 64 0 0.00 47 5 9.62 FSTL4 0 genome.wustl.edu 37 5 132545933 132545934 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132545933 132545934 - T INS FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_ins c.1666_1665 p.V555fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 73 0 0.00 55 14 20.29 FSTL4 0 genome.wustl.edu 37 5 132561501 132561501 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132561501 132561501 G A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known silent c.1026 p.V342 0.989 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 244 0 0.00 173 28 13.93 FSTL4 0 genome.wustl.edu 37 5 132648366 132648366 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132648366 132648366 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.707 p.R236H 0.012 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 111 0 0.00 66 20 23.26 FUT1 0 genome.wustl.edu 37 19 49254323 49254323 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49254323 49254323 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.216 p.Q72 0.008 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 - - 63 0 0.00 35 8 18.60 FUT3 0 genome.wustl.edu 37 19 5844264 5844264 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5844264 5844264 G A SNP FUT3 ENST00000303225 human ensembl 74_37 -1 known missense c.587 p.A196V 0.975 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 tier1 - - 110 0 0.00 69 17 19.77 FXR2 0 genome.wustl.edu 37 17 7496121 7496122 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7496121 7496122 - G INS FXR2 ENST00000250113 human ensembl 74_37 -1 known frame_shift_ins c.1620_1619 p.A541fs 1.000:1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 tier1 86 0 0.00 57 12 17.39 FXYD1 0 genome.wustl.edu 37 19 35630989 35630989 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 35630989 35630989 G A SNP FXYD1 ENST00000351325 human ensembl 74_37 +1 known silent c.6 p.A2 0.002 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD1 HGNC ENSG00000266964 tier1 - - 144 0 0.00 91 19 17.27 FYB 0 genome.wustl.edu 37 5 39202748 39202748 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 39202748 39202748 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.345 p.A115 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 65 0 0.00 54 13 19.40 FZD3 0 genome.wustl.edu 37 8 28385159 28385159 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 28385159 28385159 T - DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.882 p.F296fs 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 tier1 133 0 0.00 134 22 14.10 FZD5 0 genome.wustl.edu 37 2 208632601 208632601 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 208632601 208632601 C T SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known missense c.863 p.R288H 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 13 0 0.00 11 2 15.38 FZD8 0 genome.wustl.edu 37 10 35929104 35929104 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 35929104 35929104 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known silent c.1254 p.S418 0.996 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 tier1 - - 45 0 0.00 27 5 15.62 GABBR1 0 genome.wustl.edu 37 6 29591129 29591129 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 29591129 29591129 A G SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.916 p.W306R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 - - 55 0 0.00 46 7 13.21 GABRB3 0 genome.wustl.edu 37 15 27017881 27017881 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 27017881 27017881 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.119 p.T40M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 37 0 0.00 13 7 35.00 GALNS 0 genome.wustl.edu 37 16 88891252 88891252 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 88891252 88891252 T C SNP GALNS ENST00000268695 human ensembl 74_37 -1 known missense c.1165 p.T389A 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 tier1 - - 89 0 0.00 57 22 27.85 GALT 0 genome.wustl.edu 37 9 34648885 34648885 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34648885 34648885 C T SNP GALT ENST00000378842 human ensembl 74_37 +1 known missense c.814 p.R272C 1.000 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 tier1 rs111033766 - 93 0 0.00 80 13 13.98 GANC 0 genome.wustl.edu 37 15 42641675 42641675 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42641675 42641675 C A SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.2513 p.S838Y 0.444 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 tier1 - - 154 0 0.00 88 19 17.76 GAS2L1 0 genome.wustl.edu 37 22 29708396 29708396 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 29708396 29708396 C - DEL GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative frame_shift_del c.1275 p.R427fs 0.987 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 tier1 70 0 0.00 50 10 16.67 GAS6-AS1 0 genome.wustl.edu 37 13 114537668 114537668 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 114537668 114537668 G A SNP GAS6-AS1 ENST00000458001 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GAS6-AS1 HGNC ENSG00000233695 tier1 - - 71 0 0.00 54 22 28.95 GATM 0 genome.wustl.edu 37 15 45668934 45668934 + Silent SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 45668934 45668934 T G SNP GATM ENST00000396659 human ensembl 74_37 -1 known silent c.153 p.A51 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 tier1 - - 51 0 0.00 46 15 24.59 GBP1 0 genome.wustl.edu 37 1 89521895 89521895 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 89521895 89521895 T - DEL GBP1 ENST00000370473 human ensembl 74_37 -1 known frame_shift_del c.1172 p.K391fs 0.019 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 135 0 0.00 106 10 8.62 GBP2 0 genome.wustl.edu 37 1 89579764 89579765 + Frame_Shift_Ins INS - - CT TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 89579764 89579765 - CT INS GBP2 ENST00000370466 human ensembl 74_37 -1 known frame_shift_ins c.1084_1083 p.A361fs 1.000:1.000 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 GBP2 HGNC ENSG00000162645 tier1 179 0 0.00 134 30 18.29 GCDH 0 genome.wustl.edu 37 19 13007123 13007123 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 13007123 13007123 C 0 DEL GCDH ENST00000222214 human ensembl 74_37 +1 known frame_shift_del c.740 p.R249fs 0.998 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 110 0 0.00 85 6 6.59 GCFC2 0 genome.wustl.edu 37 2 75921512 75921512 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 75921512 75921512 T C SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.875 p.E292G 1.000 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 tier1 - - 174 0 0.00 134 19 12.42 GCM2 0 genome.wustl.edu 37 6 10874697 10874697 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 10874697 10874697 A C SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.1052 p.F351C 1.000 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 tier1 - - 194 0 0.00 130 31 19.14 GCN1L1 0 genome.wustl.edu 37 12 120599364 120599364 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 120599364 120599364 T - DEL GCN1L1 ENST00000300648 human ensembl 74_37 -1 known frame_shift_del c.2366 p.K789fs 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 167 0 0.00 125 26 17.22 GCNT1 0 genome.wustl.edu 37 9 79117617 79117617 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 79117617 79117617 G A SNP GCNT1 ENST00000376730 human ensembl 74_37 +1 known missense c.320 p.R107H 0.991 NULL pfam_Glyco_trans_14 - no_errors GCNT1 HGNC ENSG00000187210 tier1 rs142199715 - 177 0 0.00 174 19 9.84 GDF2 0 genome.wustl.edu 37 10 48413794 48413794 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 48413794 48413794 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.1074 p.G358 0.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 106 0 0.00 73 21 22.34 GFI1 0 genome.wustl.edu 37 1 92946569 92946569 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 92946569 92946569 G A SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known silent c.375 p.S125 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 tier1 - - 40 0 0.00 23 4 14.81 GIT1 0 genome.wustl.edu 37 17 27903235 27903236 + Splice_Site DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 27903235 27903236 CA - DEL GIT1 ENST00000394869 human ensembl 74_37 -1 known splice_site_del c.1638+2_1638+1 e15+2 1.000:1.000 - - - no_errors GIT1 HGNC ENSG00000108262 tier1 224 0 0.00 162 29 15.18 GLA 0 genome.wustl.edu 37 X 100653647 100653647 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 100653647 100653647 G A SNP GLA ENST00000466414 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GLA HGNC ENSG00000102393 tier1 - - 78 0 0.00 53 10 15.87 GLA 0 genome.wustl.edu 37 X 100653778 100653778 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 100653778 100653778 C A SNP GLA ENST00000218516 human ensembl 74_37 -1 known missense c.796 p.D266Y 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 tier1 - - 283 0 0.00 172 17 8.99 GLB1L 0 genome.wustl.edu 37 2 220108288 220108288 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220108288 220108288 G T SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.8 p.P3H 0.058 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 tier1 - - 90 0 0.00 72 14 16.28 GLCCI1 0 genome.wustl.edu 37 7 8095099 8095099 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 8095099 8095099 A G SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.733 p.K245E 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 tier1 - - 92 0 0.00 80 10 11.11 GLDC 0 genome.wustl.edu 37 9 6595052 6595052 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 6595052 6595052 G T SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.1223 p.A408D 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 tier1 - - 459 0 0.00 298 49 14.12 GLI2 0 genome.wustl.edu 37 2 121744079 121744079 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 121744079 121744079 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.2182 p.R728W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 67 0 0.00 40 16 28.57 GLMN 0 genome.wustl.edu 37 1 92729250 92729250 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 92729250 92729250 T C SNP GLMN ENST00000370360 human ensembl 74_37 -1 known missense c.1339 p.I447V 0.926 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 tier1 - - 181 0 0.00 130 36 21.56 GLRA1 0 genome.wustl.edu 37 5 151266343 151266343 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 151266343 151266343 G - DEL GLRA1 ENST00000455880 human ensembl 74_37 -1 known frame_shift_del c.191 p.P64fs 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 tier1 122 0 0.00 89 10 10.10 GLS2 0 genome.wustl.edu 37 12 56866478 56866478 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56866478 56866478 G A SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known nonsense c.1507 p.R503* 0.999 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 tier1 - - 157 0 0.00 76 28 26.92 GLTP 0 genome.wustl.edu 37 12 110293504 110293504 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 110293504 110293504 G T SNP GLTP ENST00000318348 human ensembl 74_37 -1 known missense c.367 p.L123I 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTP HGNC ENSG00000139433 tier1 - - 76 0 0.00 70 11 13.58 GLUD1 0 genome.wustl.edu 37 10 88854379 88854379 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 88854379 88854379 G 0 DEL GLUD1 ENST00000277865 human ensembl 74_37 -1 known frame_shift_del c.148 p.R50fs 0.918 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 110 0 0.00 116 10 7.94 GMCL1 0 genome.wustl.edu 37 2 70057099 70057099 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 70057099 70057099 G - DEL GMCL1 ENST00000282570 human ensembl 74_37 +1 known frame_shift_del c.75 p.G27fs 0.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC ENSG00000087338 tier1 16 0 0.00 17 4 19.05 GMPPA 0 genome.wustl.edu 37 2 220370392 220370392 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220370392 220370392 T A SNP GMPPA ENST00000373917 human ensembl 74_37 +1 novel missense c.968 p.I323N 0.000 superfamily_Trimer_LpxA-like pfam_NTP_transferase,superfamily_Trimer_LpxA-like - no_errors GMPPA HGNC ENSG00000144591 tier1 - - 52 0 0.00 35 7 16.67 GNA13 0 genome.wustl.edu 37 17 63010659 63010659 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 63010659 63010659 C T SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.850 p.V284I 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_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_12 - no_errors GNA13 HGNC ENSG00000120063 tier1 - - 157 0 0.00 124 24 16.22 GOLGA1 0 genome.wustl.edu 37 9 127643510 127643510 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 127643510 127643510 T C SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known silent c.2163 p.S721 0.336 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 tier1 - - 224 0 0.00 174 44 20.18 GON4L 0 genome.wustl.edu 37 1 155790395 155790395 + Splice_Site SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155790395 155790395 A C SNP GON4L ENST00000368331 human ensembl 74_37 -1 known splice_site c.1014+2 e5+2 1.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 - - 66 0 0.00 42 11 20.75 GON4L 0 genome.wustl.edu 37 1 155791289 155791289 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155791289 155791289 A G SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.939 p.S313 0.936 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 117 0 0.00 87 9 9.38 GP5 0 genome.wustl.edu 37 3 194117340 194117341 + Frame_Shift_Del DEL CT CT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 194117340 194117341 CT - DEL GP5 ENST00000323007 human ensembl 74_37 -1 known frame_shift_del c.1672_1671 p.R557fs 0.002:0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 tier1 278 0 0.00 220 52 19.12 GP5 0 genome.wustl.edu 37 3 194117442 194117442 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 194117442 194117442 A G SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.1570 p.F524L 0.579 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 tier1 - - 329 0 0.00 208 46 18.11 GPAT2 0 genome.wustl.edu 37 2 96698081 96698081 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 96698081 96698081 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known silent c.27 p.C9 0.001 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 tier1 - - 13 0 0.00 6 5 45.45 GPATCH1 0 genome.wustl.edu 37 19 33579129 33579129 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 33579129 33579129 G A SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known missense c.163 p.G55R 1.000 pfam_DUF1604 pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 tier1 - - 96 0 0.00 71 7 8.97 GPBAR1 0 genome.wustl.edu 37 2 219127775 219127775 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219127775 219127775 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known missense c.328 p.R110C 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 tier1 rs202136704 - 73 0 0.00 58 16 21.62 GPD1 0 genome.wustl.edu 37 12 50501870 50501870 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 50501870 50501870 C T SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known missense c.910 p.R304W 0.914 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 tier1 rs151058941 - 42 0 0.00 23 7 23.33 GPN2 0 genome.wustl.edu 37 1 27210734 27210734 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 27210734 27210734 A G SNP GPN2 ENST00000374135 human ensembl 74_37 -1 known silent c.777 p.N259 0.996 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN2 HGNC ENSG00000142751 58 0 0.00 44 3 6.38 GPR1 0 genome.wustl.edu 37 2 207041601 207041601 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 207041601 207041601 C T SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.371 p.S124N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 tier1 - - 162 0 0.00 123 14 10.22 GPR125 0 genome.wustl.edu 37 4 22415458 22415458 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 22415458 22415458 A - DEL GPR125 ENST00000506155 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPR125 HGNC ENSG00000152990 tier1 23 0 0.00 31 6 16.22 GPR151 0 genome.wustl.edu 37 5 145895251 145895251 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 145895251 145895251 G A SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known silent c.426 p.D142 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 tier1 - - 155 0 0.00 100 9 8.26 GPR153 0 genome.wustl.edu 37 1 6314953 6314953 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6314953 6314953 G A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.13 p.R5W 0.996 prints_GPR153 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 tier1 - - 90 0 0.00 57 18 24.00 GPR17 0 genome.wustl.edu 37 2 128408857 128408857 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 128408857 128408857 A T SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known missense c.632 p.Q211L 1.000 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_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 tier1 - - 205 0 0.00 140 11 7.24 GPR171 0 genome.wustl.edu 37 3 150917110 150917110 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 150917110 150917110 A - DEL GPR171 ENST00000309180 human ensembl 74_37 -1 known frame_shift_del c.64 p.Y22fs 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 tier1 101 0 0.00 62 13 17.33 GPR173 0 genome.wustl.edu 37 X 53106765 53106765 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 53106765 53106765 A G SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.962 p.Y321C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 tier1 - - 103 0 0.00 58 5 7.81 GPR179 0 genome.wustl.edu 37 17 36499264 36499264 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 36499264 36499264 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.409 p.V137M 0.008 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 105 0 0.00 93 11 10.58 GPR180 0 genome.wustl.edu 37 13 95264512 95264512 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 95264512 95264512 T - DEL GPR180 ENST00000376958 human ensembl 74_37 +1 known frame_shift_del c.373 p.Y126fs 1.000 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 tier1 122 0 0.00 118 18 13.24 GPR27 0 genome.wustl.edu 37 3 71804120 71804120 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 71804120 71804120 G A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.920 p.R307Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 tier1 - - 67 0 0.00 62 6 8.82 GPR37L1 0 genome.wustl.edu 37 1 202097020 202097020 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 202097020 202097020 C T SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.782 p.T261M 0.898 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 tier1 - - 77 0 0.00 59 6 9.23 GPRC5B 0 genome.wustl.edu 37 16 19883185 19883185 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 19883185 19883185 C T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.1061 p.R354Q 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 tier1 - - 157 0 0.00 134 29 17.68 GPRC6A 0 genome.wustl.edu 37 6 117127708 117127708 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 117127708 117127708 T G SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.1160 p.K387T 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 77 0 0.00 75 7 8.54 GPRIN3 0 genome.wustl.edu 37 4 90170124 90170124 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 90170124 90170124 G - DEL GPRIN3 ENST00000333209 human ensembl 74_37 -1 known frame_shift_del c.1138 p.Q380fs 0.002 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 124 0 0.00 101 23 18.55 GPRIN3 0 genome.wustl.edu 37 4 90170781 90170781 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 90170781 90170781 T C SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.481 p.T161A 0.002 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 - - 148 0 0.00 109 29 21.01 GPSM2 0 genome.wustl.edu 37 1 109446858 109446858 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109446858 109446858 A G SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1174 p.I392V 0.015 NULL pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 tier1 - - 74 0 0.00 66 7 9.59 GPSM2 0 genome.wustl.edu 37 1 109466819 109466819 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109466819 109466819 A C SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1798 p.I600L 1.000 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 tier1 - - 53 0 0.00 29 12 29.27 GPT 0 genome.wustl.edu 37 8 145730439 145730439 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145730439 145730439 T C SNP GPT ENST00000394955 human ensembl 74_37 +1 known silent c.420 p.I140 0.139 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 tier1 - - 106 0 0.00 98 14 12.50 GRASP 0 genome.wustl.edu 37 12 52404705 52404705 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 52404705 52404705 G A SNP GRASP ENST00000293662 human ensembl 74_37 +1 known missense c.337 p.G113S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 tier1 - - 139 0 0.00 114 28 19.72 GRIN3B 0 genome.wustl.edu 37 19 1005179 1005179 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1005179 1005179 G A SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1679 p.R560Q 0.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 tier1 - - 110 0 0.00 74 7 8.64 GSK3A 0 genome.wustl.edu 37 19 42736274 42736274 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42736274 42736274 G A SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known missense c.1313 p.A438V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3A HGNC ENSG00000105723 tier1 - - 36 0 0.00 23 4 14.81 GSN 0 genome.wustl.edu 37 9 124064376 124064376 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 124064376 124064376 G A SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 tier1 - - 176 0 0.00 191 49 20.42 GSPT2 0 genome.wustl.edu 37 X 51487096 51487096 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 51487096 51487096 A T SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known missense c.374 p.N125I 0.983 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 tier1 - - 44 0 0.00 22 5 18.52 GSTM3 0 genome.wustl.edu 37 1 110280142 110280142 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 110280142 110280142 A G SNP GSTM3 ENST00000256594 human ensembl 74_37 -1 known silent c.516 p.R172 0.995 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM3 HGNC ENSG00000134202 tier1 rs77560878 - 127 0 0.00 103 9 8.04 GSTM5 0 genome.wustl.edu 37 1 110260147 110260147 + RNA SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 110260147 110260147 C A SNP GSTM5 ENST00000483153 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTM5 HGNC ENSG00000134201 tier1 - - 36 0 0.00 22 6 21.43 GTF2A1 0 genome.wustl.edu 37 14 81659127 81659127 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 81659127 81659127 A G SNP GTF2A1 ENST00000553612 human ensembl 74_37 -1 known silent c.669 p.P223 0.961 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 tier1 - - 280 0 0.00 226 28 10.94 GTF2F2 0 genome.wustl.edu 37 13 45725872 45725872 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 45725872 45725872 A - DEL GTF2F2 ENST00000340473 human ensembl 74_37 +1 known frame_shift_del c.210 p.K71fs 0.998 pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 tier1 148 0 0.00 138 24 14.81 GTF2IRD2B 0 genome.wustl.edu 37 7 74539001 74539001 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 74539001 74539001 G A SNP GTF2IRD2B ENST00000312575 human ensembl 74_37 +1 known silent c.423 p.S141 0.032 pfam_GTF2I,superfamily_GTF2I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 tier1 - - 59 0 0.00 55 14 20.29 GTF3C1 0 genome.wustl.edu 37 16 27506203 27506203 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 27506203 27506203 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.2659 p.R887C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 62 0 0.00 44 10 18.52 GTF3C5 0 genome.wustl.edu 37 9 135919265 135919265 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 135919265 135919265 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.524 p.R175Q 0.999 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 - - 186 0 0.00 127 34 21.12 GUCA2B 0 genome.wustl.edu 37 1 42620453 42620453 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 42620453 42620453 G A SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known missense c.193 p.A65T 0.000 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 tier1 - - 121 0 0.00 85 7 7.61 GUCY2C 0 genome.wustl.edu 37 12 14778829 14778829 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 14778829 14778829 T - DEL GUCY2C ENST00000261170 human ensembl 74_37 -1 known frame_shift_del c.2270 p.N757fs 0.989 superfamily_Kinase-like_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 84 0 0.00 48 12 20.00 GYG2 0 genome.wustl.edu 37 X 2748186 2748186 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 2748186 2748186 G A SNP GYG2 ENST00000381161 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors GYG2 HGNC ENSG00000056998 tier1 - - 66 0 0.00 36 6 14.29 GYS2 0 genome.wustl.edu 37 12 21712605 21712605 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 21712605 21712605 T - DEL GYS2 ENST00000261195 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K403fs 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 tier1 52 0 0.00 23 7 23.33 HADHA 0 genome.wustl.edu 37 2 26414132 26414132 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 26414132 26414132 T C SNP HADHA ENST00000380649 human ensembl 74_37 -1 known missense c.2279 p.K760R 1.000 superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 tier1 - - 100 0 0.00 49 9 15.52 HAUS6 0 genome.wustl.edu 37 9 19063047 19063047 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 19063047 19063047 T - DEL HAUS6 ENST00000380502 human ensembl 74_37 -1 known frame_shift_del c.1588 p.S530fs 0.006 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 tier1 172 0 0.00 121 30 19.87 HAUS6 0 genome.wustl.edu 37 9 19082943 19082943 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 19082943 19082943 A G SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known silent c.798 p.A266 0.985 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 tier1 - - 45 0 0.00 41 7 14.58 HAX1 0 genome.wustl.edu 37 1 154246391 154246391 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154246391 154246391 C - DEL HAX1 ENST00000483970 human ensembl 74_37 +1 known frame_shift_del c.482 p.Q163fs 0.033 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 tier1 162 0 0.00 111 25 18.38 HCAR2 0 genome.wustl.edu 37 12 123187303 123187303 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 123187303 123187303 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known silent c.528 p.L176 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 tier1 - - 93 0 0.00 74 21 21.88 HEATR5A 0 genome.wustl.edu 37 14 31763206 31763206 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 31763206 31763206 T G SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.5706 p.K1902N 0.949 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 tier1 - - 29 0 0.00 11 5 31.25 HECTD4 0 genome.wustl.edu 37 12 112600935 112600935 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 112600935 112600935 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.12515 p.P4172L 0.998 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 186 0 0.00 150 11 6.83 HECTD4 0 genome.wustl.edu 37 12 112654721 112654721 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 112654721 112654721 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.6725 p.P2242L 1.000 superfamily_ConA-like_lec_gl_sf pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 134 0 0.00 108 21 16.28 HECW2 0 genome.wustl.edu 37 2 197085637 197085637 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 197085637 197085637 C 0 DEL HECW2 ENST00000260983 human ensembl 74_37 -1 known frame_shift_del c.4175 p.G1392fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 155 0 0.00 136 12 8.11 HELZ 0 genome.wustl.edu 37 17 65184691 65184691 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 65184691 65184691 A C SNP HELZ ENST00000358691 human ensembl 74_37 -1 known silent c.906 p.A302 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 tier1 - - 204 0 0.00 151 8 5.03 HELZ2 0 genome.wustl.edu 37 20 62198955 62198955 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62198955 62198955 A G SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.1756 p.Y586H 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 18 0 0.00 21 3 12.50 HEPH 0 genome.wustl.edu 37 X 65420424 65420424 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 65420424 65420424 T C SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.2069 p.M690T 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 29 0 0.00 17 5 22.73 HEPHL1 0 genome.wustl.edu 37 11 93800808 93800808 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 93800808 93800808 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.955 p.R319W 1.000 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 210 0 0.00 130 24 15.58 HERC3 0 genome.wustl.edu 37 4 89591035 89591035 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 89591035 89591035 C T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.1658 p.P553L 0.998 NULL 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 - - 111 0 0.00 89 15 14.42 HEXDC 0 genome.wustl.edu 37 17 80400468 80400468 + Nonstop_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80400468 80400468 A G SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known nonstop c.1758 p.*586W 0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 tier1 - - 180 0 0.00 163 14 7.91 HEXIM1 0 genome.wustl.edu 37 17 43227536 43227536 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 43227536 43227536 C T SNP HEXIM1 ENST00000332499 human ensembl 74_37 +1 known silent c.979 p.L327 1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 tier1 - - 195 0 0.00 137 31 18.45 HGFAC 0 genome.wustl.edu 37 4 3449219 3449219 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 3449219 3449219 C - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.1356 p.R455fs 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 133 0 0.00 83 23 21.70 HIPK1 0 genome.wustl.edu 37 1 114497277 114497277 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 114497277 114497277 G A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.1205 p.R402H 1.000 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_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 HIPK1 HGNC ENSG00000163349 tier1 - - 47 0 0.00 45 16 26.23 HIPK2 0 genome.wustl.edu 37 7 139416654 139416654 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 139416654 139416654 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known silent c.180 p.S60 0.003 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 tier1 - - 72 0 0.00 32 14 30.43 HIPK4 0 genome.wustl.edu 37 19 40895497 40895497 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 40895497 40895497 A G SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.313 p.F105L 1.000 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_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 HIPK4 HGNC ENSG00000160396 tier1 - - 109 0 0.00 81 8 8.99 HIST1H2BM 0 genome.wustl.edu 37 6 27783154 27783154 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 27783154 27783154 C T SNP HIST1H2BM ENST00000359465 human ensembl 74_37 +1 known silent c.333 p.A111 0.965 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BM HGNC ENSG00000196374 tier1 - - 119 0 0.00 68 18 20.93 HIST2H2BB 0 genome.wustl.edu 37 1 149399189 149399189 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 149399189 149399189 A - DEL HIST2H2BB ENST00000609585 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HIST2H2BB HGNC ENSG00000240929 tier1 86 0 0.00 67 10 12.99 HIVEP3 0 genome.wustl.edu 37 1 42046170 42046170 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 42046170 42046170 T C SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.4299 p.S1433 0.835 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 223 0 0.00 166 30 15.31 HIVEP3 0 genome.wustl.edu 37 1 42048715 42048715 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 42048715 42048715 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1754 p.R585Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 128 0 0.00 95 9 8.57 HKR1 0 genome.wustl.edu 37 19 37854555 37854555 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 37854555 37854555 T C SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1858 p.S620P 0.364 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 HKR1 HGNC ENSG00000181666 tier1 - - 135 0 0.00 85 17 16.67 HLA-G 0 genome.wustl.edu 37 6 29794819 29794819 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 29794819 29794819 A G SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known missense c.4 p.K2E 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 tier1 - - 25 0 0.00 12 8 40.00 HMGN2 0 genome.wustl.edu 37 1 26800609 26800609 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26800609 26800609 A - DEL HMGN2 ENST00000361427 human ensembl 74_37 +1 known frame_shift_del c.124 p.K43fs 1.000 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN2 HGNC ENSG00000198830 tier1 55 0 0.00 38 9 19.15 HNRNPAB 0 genome.wustl.edu 37 5 177636438 177636438 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 177636438 177636438 T A SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known silent c.777 p.G259 0.021 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 tier1 - - 91 0 0.00 62 15 19.48 HOOK2 0 genome.wustl.edu 37 19 12874103 12874103 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 12874103 12874103 T G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.2153 p.K718T 1.000 NULL pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 86 0 0.00 65 15 18.75 HOOK2 0 genome.wustl.edu 37 19 12875861 12875861 + Silent SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 12875861 12875861 T G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.1675 p.R559 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 252 0 0.00 198 13 6.16 HORMAD1 0 genome.wustl.edu 37 1 150689667 150689667 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150689667 150689667 G A SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.125 p.T42M 0.999 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 tier1 - - 136 0 0.00 116 23 16.55 HOXB3 0 genome.wustl.edu 37 17 46629737 46629737 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 46629737 46629737 G - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.100 p.Q34fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 tier1 83 0 0.00 78 9 10.34 HOXD10 0 genome.wustl.edu 37 2 176973611 176973611 + RNA DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 176973611 176973611 C - DEL HOXD10 ENST00000490088 human ensembl 74_37 +1 known rna NULL NULL 0.496 - - - no_errors HOXD10 HGNC ENSG00000128710 tier1 81 0 0.00 50 7 12.28 HPS5 0 genome.wustl.edu 37 11 18330492 18330492 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18330492 18330492 C A SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known splice_site c.611+1 e5+1 1.000 - - - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 62 0 0.00 49 11 18.33 HRNR 0 genome.wustl.edu 37 1 152188847 152188847 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152188847 152188847 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5258 p.V1753A 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs145667921 - 36 0 0.00 26 4 13.33 HRNR 0 genome.wustl.edu 37 1 152192588 152192588 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152192588 152192588 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1517 p.R506Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs140120787 - 511 0 0.00 353 65 15.55 HRNR 0 genome.wustl.edu 37 1 152193015 152193015 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152193015 152193015 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1090 p.H364Y 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 226 0 0.00 168 22 11.52 HSD11B1L 0 genome.wustl.edu 37 19 5684870 5684870 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5684870 5684870 G - DEL HSD11B1L ENST00000423665 human ensembl 74_37 +1 known frame_shift_del c.27 p.A11fs 0.998 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1L HGNC ENSG00000167733 tier1 120 0 0.00 91 15 14.15 HSF1 0 genome.wustl.edu 37 8 145535565 145535565 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145535565 145535565 C T SNP HSF1 ENST00000533130 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HSF1 HGNC ENSG00000185122 tier1 - - 54 0 0.00 62 14 18.42 HSP90B1 0 genome.wustl.edu 37 12 104335416 104335416 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 104335416 104335416 C T SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.1240 p.R414C 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 tier1 - - 94 0 0.00 78 17 17.89 HSPA2 0 genome.wustl.edu 37 14 65009431 65009431 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 65009431 65009431 A G SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.1864 p.S622G 0.863 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 tier1 - - 49 0 0.00 28 10 26.32 HSPG2 0 genome.wustl.edu 37 1 22202409 22202409 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22202409 22202409 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3130 p.A1044T 0.017 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 145 0 0.00 118 19 13.87 HSPG2 0 genome.wustl.edu 37 1 22216952 22216952 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22216952 22216952 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.381 p.P127 0.241 smart_SEA_dom,pfscan_SEA_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 136 0 0.00 81 29 26.36 HTRA2 0 genome.wustl.edu 37 2 74757945 74757945 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 74757945 74757945 T A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known silent c.708 p.T236 0.983 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 tier1 - - 177 0 0.00 133 37 21.76 HUWE1 0 genome.wustl.edu 37 X 53674486 53674486 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 53674486 53674486 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.176 p.D59G 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 249 0 0.00 185 35 15.91 IBTK 0 genome.wustl.edu 37 6 82933292 82933292 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 82933292 82933292 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.989 p.R330H 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 tier1 - - 84 0 0.00 77 5 6.10 ICA1 0 genome.wustl.edu 37 7 8167646 8167646 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 8167646 8167646 G T SNP ICA1 ENST00000422063 human ensembl 74_37 -1 known missense c.1274 p.A425D 0.982 pfam_Islet_autoAg_Ica1_C pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 tier1 - - 194 0 0.00 137 35 20.35 ICAM4 0 genome.wustl.edu 37 19 10398394 10398394 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10398394 10398394 T C SNP ICAM4 ENST00000340992 human ensembl 74_37 +1 known missense c.500 p.L167P 0.071 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 tier1 - - 111 0 0.00 78 12 13.33 IFITM1 0 genome.wustl.edu 37 11 314210 314210 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 314210 314210 C - DEL IFITM1 ENST00000328221 human ensembl 74_37 +1 known frame_shift_del c.40 p.S16fs 0.007 NULL pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 tier1 168 0 0.00 116 20 14.71 IFT140 0 genome.wustl.edu 37 16 1652483 1652483 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 1652483 1652483 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.257 p.T86M 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 71 0 0.00 62 17 21.52 IFT172 0 genome.wustl.edu 37 2 27707102 27707102 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27707102 27707102 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.328 p.I110V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 130 0 0.00 107 10 8.55 IGF1R 0 genome.wustl.edu 37 15 99491899 99491899 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 99491899 99491899 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3684 p.G1228 0.057 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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 IGF1R HGNC ENSG00000140443 tier1 - - 203 0 0.00 173 11 5.98 IGF2BP3 0 genome.wustl.edu 37 7 23358755 23358755 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 23358755 23358755 A G SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known splice_site c.1320+2 e11+2 1.000 - - - no_errors IGF2BP3 HGNC ENSG00000136231 tier1 - - 120 0 0.00 81 18 18.00 IGSF1 0 genome.wustl.edu 37 X 130411260 130411260 + RNA SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 130411260 130411260 A C SNP IGSF1 ENST00000467244 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 34 0 0.00 15 8 34.78 IGSF6 0 genome.wustl.edu 37 16 21655611 21655611 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 21655611 21655611 T G SNP IGSF6 ENST00000268389 human ensembl 74_37 -1 known missense c.534 p.K178N 0.917 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF6 HGNC ENSG00000140749 tier1 - - 101 0 0.00 104 9 7.96 IL15 0 genome.wustl.edu 37 4 142643156 142643156 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 142643156 142643156 A G SNP IL15 ENST00000296545 human ensembl 74_37 +1 known missense c.190 p.I64V 1.000 pfam_IL-15/IL-21_fam,prints_IL-15_mml pfam_IL-15/IL-21_fam,prints_IL-15_mml,prints_IL-15 - no_errors IL15 HGNC ENSG00000164136 tier1 - - 62 0 0.00 56 15 21.13 IL17C 0 genome.wustl.edu 37 16 88705624 88705624 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 88705624 88705624 G T SNP IL17C ENST00000244241 human ensembl 74_37 +1 known missense c.242 p.R81M 0.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17C HGNC ENSG00000124391 tier1 - - 106 0 0.00 60 17 22.08 IL17RC 0 genome.wustl.edu 37 3 9959028 9959028 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 9959028 9959028 T A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known nonsense c.29 p.L10* 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 tier1 - - 89 0 0.00 59 5 7.81 IL18R1 0 genome.wustl.edu 37 2 103011054 103011054 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 103011054 103011054 T C SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known missense c.1237 p.C413R 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 tier1 - - 70 0 0.00 66 14 17.50 IL4R 0 genome.wustl.edu 37 16 27363879 27363879 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 27363879 27363879 A G SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.532 p.T178A 0.989 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 tier1 - - 126 0 0.00 94 23 19.49 ILF3 0 genome.wustl.edu 37 19 10782180 10782180 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10782180 10782180 A G SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.380 p.K127R 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 44 0 0.00 41 3 6.67 INADL 0 genome.wustl.edu 37 1 62545184 62545184 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 62545184 62545184 A G SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.4188 p.I1396M 0.877 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 tier1 - - 145 0 0.00 116 8 6.45 INO80B 0 genome.wustl.edu 37 2 74682928 74682928 + Splice_Site SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 74682928 74682928 G T SNP INO80B ENST00000494986 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.004 - - - no_errors INO80B HGNC ENSG00000115274 tier1 - - 158 0 0.00 140 13 8.50 IQCH 0 genome.wustl.edu 37 15 67665746 67665746 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 67665746 67665746 G T SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.1347 p.R449S 1.000 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 tier1 - - 94 0 0.00 68 11 13.92 IREB2 0 genome.wustl.edu 37 15 78768646 78768646 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 78768646 78768646 T C SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known silent c.1140 p.A380 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 - - 49 0 0.00 27 10 27.03 IRF2 0 genome.wustl.edu 37 4 185320161 185320161 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 185320161 185320161 T G SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.602 p.Q201P 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 tier1 - - 109 0 0.00 73 9 10.98 IRF2BP2 0 genome.wustl.edu 37 1 234744260 234744260 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 234744260 234744260 C A SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel missense c.981 p.K327N 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 tier1 - - 42 0 0.00 22 6 21.43 IRF7 0 genome.wustl.edu 37 11 615287 615287 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 615287 615287 G T SNP IRF7 ENST00000330243 human ensembl 74_37 -1 known missense c.32 p.P11H 0.013 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 tier1 - - 27 0 0.00 10 4 28.57 IRGQ 0 genome.wustl.edu 37 19 44096695 44096695 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 44096695 44096695 G - DEL IRGQ ENST00000422989 human ensembl 74_37 -1 known frame_shift_del c.1355 p.P452fs 0.012 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 tier1 82 0 0.00 42 11 20.75 IRS1 0 genome.wustl.edu 37 2 227661664 227661664 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 227661664 227661664 C - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.1791 p.H598fs 0.995 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 60 0 0.00 54 18 25.00 ISYNA1 0 genome.wustl.edu 37 19 18546592 18546592 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18546592 18546592 G A SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known missense c.1115 p.T372M 0.001 pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 tier1 - - 127 0 0.00 102 29 22.14 ITFG3 0 genome.wustl.edu 37 16 304581 304581 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 304581 304581 T - DEL ITFG3 ENST00000301678 human ensembl 74_37 +1 known frame_shift_del c.169 p.L58fs 0.811 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 tier1 401 0 0.00 290 57 16.43 ITGA3 0 genome.wustl.edu 37 17 48166586 48166586 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48166586 48166586 A C SNP ITGA3 ENST00000007722 human ensembl 74_37 +1 novel missense c.3158 p.K1053T 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 tier1 - - 173 0 0.00 134 34 20.24 ITGAD 0 genome.wustl.edu 37 16 31418869 31418869 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 31418869 31418869 A - DEL ITGAD ENST00000389202 human ensembl 74_37 +1 known frame_shift_del c.738 p.S248fs 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 101 0 0.00 80 9 10.11 ITIH3 0 genome.wustl.edu 37 3 52833463 52833463 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52833463 52833463 A G SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.865 p.I289V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 tier1 - - 51 0 0.00 40 6 13.04 ITLN2 0 genome.wustl.edu 37 1 160914976 160914976 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 160914976 160914976 C T SNP ITLN2 ENST00000368029 human ensembl 74_37 -1 known missense c.932 p.C311Y 0.963 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN2 HGNC ENSG00000158764 tier1 - - 48 0 0.00 48 14 22.58 ITM2C 0 genome.wustl.edu 37 2 231741676 231741676 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 231741676 231741676 C T SNP ITM2C ENST00000326427 human ensembl 74_37 +1 known silent c.555 p.N185 1.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ENSG00000135916 tier1 - - 100 0 0.00 64 11 14.67 ITPR3 0 genome.wustl.edu 37 6 33643504 33643504 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33643504 33643504 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.3153 p.G1051 0.139 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 93 0 0.00 65 13 16.67 ITPRIP 0 genome.wustl.edu 37 10 106075561 106075561 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 106075561 106075561 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known silent c.249 p.R83 0.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 tier1 - - 241 0 0.00 177 46 20.63 JAK3 0 genome.wustl.edu 37 19 17942133 17942133 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 17942133 17942133 G A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.2882 p.A961V 0.848 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 287 0 0.00 199 62 23.75 JAKMIP1 0 genome.wustl.edu 37 4 6082017 6082017 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 6082017 6082017 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1124 p.A375V 0.715 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 rs199693515 - 46 0 0.00 47 8 14.55 JMJD4 0 genome.wustl.edu 37 1 227920195 227920195 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 227920195 227920195 C T SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known silent c.1290 p.A430 0.027 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 tier1 - - 96 0 0.00 88 16 15.24 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139594 42139594 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42139594 42139594 G A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2700 p.S900 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 287 0 0.00 189 44 18.80 JUNB 0 genome.wustl.edu 37 19 12902949 12902949 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 12902949 12902949 G - DEL JUNB ENST00000302754 human ensembl 74_37 +1 known frame_shift_del c.364 p.G123fs 0.987 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 tier1 20 0 0.00 19 2 9.52 KANK2 0 genome.wustl.edu 37 19 11304488 11304488 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11304488 11304488 T C SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.268 p.N90D 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 tier1 - - 142 0 0.00 102 18 15.00 KANK4 0 genome.wustl.edu 37 1 62740426 62740427 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 62740426 62740427 - G INS KANK4 ENST00000371153 human ensembl 74_37 -1 known frame_shift_ins c.350_349 p.Q117fs 0.000:0.001 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 99 0 0.00 88 18 16.98 KANSL1L 0 genome.wustl.edu 37 2 210896239 210896239 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 210896239 210896239 T A SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known silent c.2061 p.G687 0.999 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 tier1 - - 136 0 0.00 75 24 24.00 KATNB1 0 genome.wustl.edu 37 16 57790353 57790353 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 57790353 57790353 T C SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1804 p.S602P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 tier1 - - 203 0 0.00 172 15 8.02 KCNA10 0 genome.wustl.edu 37 1 111060811 111060811 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 111060811 111060811 C T SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.599 p.R200H 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 tier1 - - 113 0 0.00 78 8 9.30 KCNA10 0 genome.wustl.edu 37 1 111060976 111060976 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 111060976 111060976 T C SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.434 p.Y145C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 tier1 - - 113 0 0.00 90 10 10.00 KCNA3 0 genome.wustl.edu 37 1 111216712 111216712 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 111216712 111216712 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.720 p.S240 0.947 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 tier1 - - 159 0 0.00 115 27 18.88 KCNA5 0 genome.wustl.edu 37 12 5154747 5154747 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 5154747 5154747 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1434 p.M478I 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 186 0 0.00 116 18 13.43 KCNB2 0 genome.wustl.edu 37 8 73848276 73848276 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 73848276 73848276 A T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.686 p.D229V 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 117 0 0.00 123 23 15.65 KCNH4 0 genome.wustl.edu 37 17 40332934 40332934 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40332934 40332934 C T SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.30 p.P10 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,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_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 245 0 0.00 206 47 18.58 KCNH5 0 genome.wustl.edu 37 14 63174814 63174814 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 63174814 63174814 T - DEL KCNH5 ENST00000322893 human ensembl 74_37 -1 known frame_shift_del c.2379 p.K793fs 0.995 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 82 0 0.00 59 17 22.37 KCNH7 0 genome.wustl.edu 37 2 163230098 163230098 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 163230098 163230098 G - DEL KCNH7 ENST00000332142 human ensembl 74_37 -1 known frame_shift_del c.3206 p.P1069fs 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 87 0 0.00 44 9 16.98 KCNH8 0 genome.wustl.edu 37 3 19575438 19575438 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 19575438 19575438 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3171 p.Q1057H 0.819 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 84 0 0.00 56 14 20.00 KCNJ10 0 genome.wustl.edu 37 1 160012018 160012018 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 160012018 160012018 G 0 DEL KCNJ10 ENST00000368089 human ensembl 74_37 -1 known frame_shift_del c.305 p.P102fs 0.995 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 138 0 0.00 103 10 8.85 KCNJ5 0 genome.wustl.edu 37 11 128781788 128781788 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 128781788 128781788 T C SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.620 p.V207A 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 tier1 - - 125 0 0.00 96 14 12.73 KCNK7 0 genome.wustl.edu 37 11 65361212 65361212 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65361212 65361212 T A SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known silent c.453 p.P151 0.005 pirsf_2pore_dom_K_chnl_TASK pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 tier1 - - 90 0 0.00 76 6 7.32 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 tier1 34 0 0.00 27 7 20.59 KCNV1 0 genome.wustl.edu 37 8 110984820 110984820 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 110984820 110984820 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.658 p.V220M 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 86 0 0.00 81 10 10.99 KCTD10 0 genome.wustl.edu 37 12 109889607 109889607 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109889607 109889607 G A SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known silent c.735 p.P245 0.027 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 tier1 - - 32 0 0.00 36 10 21.74 KCTD19 0 genome.wustl.edu 37 16 67325658 67325658 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67325658 67325658 G - DEL KCTD19 ENST00000304372 human ensembl 74_37 -1 known frame_shift_del c.2301 p.V768fs 0.051 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 94 0 0.00 73 10 12.05 KDM4C 0 genome.wustl.edu 37 9 7103861 7103861 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 7103861 7103861 C - DEL KDM4C ENST00000381309 human ensembl 74_37 +1 known frame_shift_del c.2601 p.N869fs 0.947 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 73 0 0.00 50 7 12.28 KHK 0 genome.wustl.edu 37 2 27322381 27322381 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27322381 27322381 C T SNP KHK ENST00000260598 human ensembl 74_37 +1 known silent c.747 p.R249 0.003 pfam_PfkB_dom pfam_PfkB_dom - no_errors KHK HGNC ENSG00000138030 tier1 - - 140 0 0.00 91 15 14.15 KIAA0100 0 genome.wustl.edu 37 17 26969888 26969888 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 26969888 26969888 T C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.514 p.R172G 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 106 0 0.00 96 8 7.69 KIAA0196 0 genome.wustl.edu 37 8 126068972 126068972 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 126068972 126068972 G A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.1963 p.R655C 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 tier1 rs148951367 - 156 0 0.00 135 20 12.90 KIAA0196 0 genome.wustl.edu 37 8 126069833 126069833 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 126069833 126069833 A C SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.1840 p.Y614D 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 35 0 0.00 25 3 10.71 KIAA0319L 0 genome.wustl.edu 37 1 35944603 35944603 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 35944603 35944603 G - DEL KIAA0319L ENST00000325722 human ensembl 74_37 -1 known frame_shift_del c.877 p.Q293fs 0.034 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 tier1 145 0 0.00 102 14 12.07 KIAA0754 0 genome.wustl.edu 37 1 39879328 39879328 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 39879328 39879328 G A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.2983 p.A995T 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 47 0 0.00 46 6 11.54 KIAA1143 0 genome.wustl.edu 37 3 44803035 44803035 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 44803035 44803035 G A SNP KIAA1143 ENST00000296121 human ensembl 74_37 -1 known silent c.60 p.R20 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 tier1 - - 84 0 0.00 65 8 10.96 KIAA1211 0 genome.wustl.edu 37 4 57181595 57181595 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 57181595 57181595 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1927 p.G643S 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 53 0 0.00 27 5 15.62 KIAA1211 0 genome.wustl.edu 37 4 57181887 57181887 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 57181887 57181887 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2219 p.T740M 0.018 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 135 0 0.00 104 8 7.14 KIAA1211L 0 genome.wustl.edu 37 2 99439662 99439662 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 99439662 99439662 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.1074 p.P358 0.072 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 tier1 - - 16 0 0.00 10 4 28.57 KIAA1244 0 genome.wustl.edu 37 6 138582702 138582702 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 138582702 138582702 A G SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.1143 p.G381 0.913 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 12 0 0.00 2 2 50.00 KIAA1244 0 genome.wustl.edu 37 6 138649242 138649242 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 138649242 138649242 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.5086 p.P1696S 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 11 0 0.00 6 2 25.00 KIAA1549 0 genome.wustl.edu 37 7 138552750 138552750 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138552750 138552750 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4900 p.V1634I 0.996 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 60 0 0.00 44 13 22.81 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 tier1 42 0 0.00 28 8 22.22 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 51 0 0.00 42 5 10.64 KIAA2013 0 genome.wustl.edu 37 1 11982665 11982665 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 11982665 11982665 G T SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known silent c.1915 p.R639 0.001 NULL pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 tier1 - - 22 0 0.00 15 4 21.05 KIAA2018 0 genome.wustl.edu 37 3 113377482 113377484 + In_Frame_Del DEL TTT TTT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 113377482 113377484 TTT - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known in_frame_del c.3047_3045 p.K1015in_frame_del 0.827:0.951:0.982 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 164 0 0.00 127 29 18.59 KIAA2022 0 genome.wustl.edu 37 X 73963911 73963911 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 73963911 73963911 G C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.481 p.P161A 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 136 0 0.00 79 9 10.23 KIF13A 0 genome.wustl.edu 37 6 17765159 17765159 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 17765159 17765159 T A SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.4600 p.N1534Y 0.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 21 0 0.00 23 3 11.54 KIF13B 0 genome.wustl.edu 37 8 29005050 29005050 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 29005050 29005050 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.1883 p.R628H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 39 0 0.00 34 3 8.11 KIF17 0 genome.wustl.edu 37 1 21042005 21042005 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 21042005 21042005 T C SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.359 p.H120R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 136 0 0.00 97 9 8.49 KIF20A 0 genome.wustl.edu 37 5 137515433 137515434 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 137515433 137515434 - A INS KIF20A ENST00000394894 human ensembl 74_37 +1 known frame_shift_ins c.64_65 p.P22fs 1.000:1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 tier1 125 0 0.00 89 17 16.04 KIF20B 0 genome.wustl.edu 37 10 91483748 91483748 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 91483748 91483748 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.1750 p.K586fs 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 KIF20B HGNC ENSG00000138182 tier1 75 0 0.00 54 11 16.92 KIF21B 0 genome.wustl.edu 37 1 200948728 200948728 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 200948728 200948728 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.4095 p.S1365 0.975 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 324 0 0.00 210 48 18.60 KIF2C 0 genome.wustl.edu 37 1 45218905 45218905 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 45218905 45218905 T G SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.541 p.S181A 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 tier1 - - 75 0 0.00 71 6 7.79 KIF3C 0 genome.wustl.edu 37 2 26203974 26203974 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 26203974 26203974 G A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.813 p.G271 0.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 tier1 - - 84 0 0.00 50 8 13.79 KIF3C 0 genome.wustl.edu 37 2 26204545 26204545 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 26204545 26204545 A G SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.242 p.L81P 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 tier1 - - 163 0 0.00 150 16 9.64 KIF6 0 genome.wustl.edu 37 6 39304311 39304311 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39304311 39304311 A T SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.2442 p.N814K 0.792 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 104 0 0.00 91 21 18.75 KIF9 0 genome.wustl.edu 37 3 47284551 47284551 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 47284551 47284551 G A SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1699 p.R567C 0.122 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 tier1 rs114109244 - 66 0 0.00 57 11 16.18 KIFC1 0 genome.wustl.edu 37 6 33374112 33374112 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33374112 33374112 C - DEL KIFC1 ENST00000428849 human ensembl 74_37 +1 known frame_shift_del c.1676 p.L561fs 0.647 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 tier1 415 0 0.00 263 44 14.33 KIFC2 0 genome.wustl.edu 37 8 145698237 145698237 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145698237 145698237 G C SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.1921 p.G641R 0.001 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 tier1 - - 35 0 0.00 16 5 23.81 KIRREL 0 genome.wustl.edu 37 1 158064543 158064543 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 158064543 158064543 G A SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1955 p.R652H 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 101 0 0.00 70 26 27.08 KIRREL2 0 genome.wustl.edu 37 19 36357367 36357367 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 36357367 36357367 C T SNP KIRREL2 ENST00000262625 human ensembl 74_37 +1 known missense c.1831 p.P611S 0.975 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 tier1 - - 265 0 0.00 193 32 14.22 KIRREL3 0 genome.wustl.edu 37 11 126305200 126305200 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 126305200 126305200 T C SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known splice_site c.1553-2 e13-2 1.000 - - - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 100 0 0.00 49 19 27.94 KLB 0 genome.wustl.edu 37 4 39450218 39450218 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 39450218 39450218 T - DEL KLB ENST00000257408 human ensembl 74_37 +1 known frame_shift_del c.3047 p.Q1018fs 0.564 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 tier1 113 0 0.00 95 19 16.67 KLC2 0 genome.wustl.edu 37 11 66033664 66033664 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 66033664 66033664 C - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1703 p.Q570fs 0.984 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 tier1 98 0 0.00 70 9 11.39 KLF4 0 genome.wustl.edu 37 9 110249778 110249778 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 110249778 110249778 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known silent c.897 p.R299 0.670 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 tier1 - - 34 0 0.00 32 5 13.51 KLHDC7A 0 genome.wustl.edu 37 1 18809471 18809471 + Nonsense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 18809471 18809471 A T SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known nonsense c.1996 p.K666* 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 tier1 - - 55 0 0.00 43 12 21.82 KLHL2 0 genome.wustl.edu 37 4 166243282 166243282 + RNA SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 166243282 166243282 A C SNP KLHL2 ENST00000509028 human ensembl 74_37 +1 known rna NULL NULL 0.959 - - - no_errors KLHL2 HGNC ENSG00000109466 tier1 - - 33 0 0.00 21 13 38.24 KLHL25 0 genome.wustl.edu 37 15 86312183 86312183 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 86312183 86312183 A C SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.859 p.C287G 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 tier1 - - 97 0 0.00 69 20 22.47 KLHL36 0 genome.wustl.edu 37 16 84695317 84695317 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 84695317 84695317 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.1429 p.R477W 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 tier1 - - 128 0 0.00 101 27 20.93 KLRK1 0 genome.wustl.edu 37 12 10532376 10532376 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 10532376 10532376 A - DEL KLRK1 ENST00000240618 human ensembl 74_37 -1 known frame_shift_del c.164 p.F55fs 0.002 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 tier1 41 0 0.00 19 8 29.63 KMO 0 genome.wustl.edu 37 1 241753558 241753558 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 241753558 241753558 A - DEL KMO ENST00000366559 human ensembl 74_37 +1 known frame_shift_del c.1253 p.K420fs 1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 tier1 147 0 0.00 119 16 11.85 KMT2A 0 genome.wustl.edu 37 11 118343989 118343989 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 118343989 118343989 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.2115 p.S705 0.872 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 57 0 0.00 53 7 11.67 KMT2B 0 genome.wustl.edu 37 19 36210709 36210709 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 36210709 36210709 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.460 p.R154C 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 222 0 0.00 186 31 14.29 KMT2D 0 genome.wustl.edu 37 12 49420109 49420109 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49420109 49420109 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15640 p.R5214C 1.000 pfam_FYrich_N,smart_FYrich_N 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 - - 66 0 0.00 45 16 26.23 KMT2D 0 genome.wustl.edu 37 12 49447831 49447831 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49447831 49447831 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.603 p.S201 0.987 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING 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 - - 69 0 0.00 35 12 25.53 KMT2E 0 genome.wustl.edu 37 7 104741971 104741971 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 104741971 104741971 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.1822 p.A608T 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 61 0 0.00 54 8 12.90 KMT2E 0 genome.wustl.edu 37 7 104746985 104746985 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 104746985 104746985 A - DEL KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_del c.2613 p.K873fs 0.999 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 81 0 0.00 58 11 15.94 KMT2E 0 genome.wustl.edu 37 7 104752567 104752567 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 104752567 104752567 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.4364 p.T1455M 0.995 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 202 0 0.00 153 28 15.47 KNOP1 0 genome.wustl.edu 37 16 19725891 19725891 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 19725891 19725891 T 0 DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.467 p.K156fs 0.673 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 111 0 0.00 90 7 7.22 KPNA6 0 genome.wustl.edu 37 1 32626257 32626257 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 32626257 32626257 T A SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known silent c.615 p.V205 0.999 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 tier1 - - 79 0 0.00 78 14 15.22 KRT12 0 genome.wustl.edu 37 17 39019472 39019472 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 39019472 39019472 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.1219 p.R407C 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 tier1 - - 54 0 0.00 29 12 29.27 KRT18 0 genome.wustl.edu 37 12 53345404 53345404 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 53345404 53345404 A T SNP KRT18 ENST00000388835 human ensembl 74_37 +1 known missense c.797 p.E266V 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 tier1 - - 61 0 0.00 59 6 9.23 KRT222 0 genome.wustl.edu 37 17 38818255 38818255 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 38818255 38818255 C A SNP KRT222 ENST00000394052 human ensembl 74_37 -1 known missense c.138 p.E46D 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 tier1 - - 193 0 0.00 150 34 18.48 KRT40 0 genome.wustl.edu 37 17 39134454 39134454 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 39134454 39134454 A C SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known missense c.1291 p.L431V 0.001 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 tier1 - - 113 0 0.00 72 25 25.77 KRT40 0 genome.wustl.edu 37 17 39140442 39140442 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 39140442 39140442 G A SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.84 p.S28 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 tier1 - - 42 0 0.00 33 5 13.16 KRT6A 0 genome.wustl.edu 37 12 52886929 52886929 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 52886929 52886929 C T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.44 p.R15H 0.009 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 84 0 0.00 59 9 13.24 KRT74 0 genome.wustl.edu 37 12 52967153 52967153 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 52967153 52967153 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.409 p.R137C 0.553 NULL pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 tier1 - - 181 0 0.00 139 42 23.20 KRT79 0 genome.wustl.edu 37 12 53227696 53227696 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 53227696 53227696 C T SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.349 p.V117I 1.000 NULL pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 tier1 - - 143 0 0.00 98 6 5.77 KRTAP10-8 0 genome.wustl.edu 37 21 46032513 46032513 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 46032513 46032513 T C SNP KRTAP10-8 ENST00000334662 human ensembl 74_37 +1 known missense c.496 p.C166R 0.056 NULL pfam_KRTAP_PMG - no_errors KRTAP10-8 HGNC ENSG00000187766 tier1 - - 425 0 0.00 326 40 10.93 LAMA2 0 genome.wustl.edu 37 6 129621928 129621928 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 129621928 129621928 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known nonsense c.3085 p.R1029* 0.585 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 90 0 0.00 76 12 13.64 LAMA5 0 genome.wustl.edu 37 20 60921821 60921821 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 60921821 60921821 A T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1108 p.Y370N 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 23 0 0.00 29 5 14.71 LAMB1 0 genome.wustl.edu 37 7 107599831 107599831 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107599831 107599831 A G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.2553 p.C851 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 125 0 0.00 101 11 9.82 LAMB4 0 genome.wustl.edu 37 7 107738872 107738872 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107738872 107738872 C T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1336 p.A446T 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 77 0 0.00 55 8 12.70 LARP4B 0 genome.wustl.edu 37 10 930435 930435 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 930435 930435 A G SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known silent c.93 p.P31 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 tier1 - - 76 0 0.00 49 11 18.33 LARP7 0 genome.wustl.edu 37 4 113578482 113578483 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 113578482 113578483 - A INS LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_ins c.1748_1749 p.*584fs 0.998:1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 31 0 0.00 16 2 11.11 LAT2 0 genome.wustl.edu 37 7 73634118 73634118 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 73634118 73634118 G A SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known splice_site c.178+1 e3+1 0.998 - - - no_errors LAT2 HGNC ENSG00000086730 tier1 - - 241 0 0.00 167 19 10.22 LATS2 0 genome.wustl.edu 37 13 21555716 21555716 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 21555716 21555716 C - DEL LATS2 ENST00000382592 human ensembl 74_37 -1 known frame_shift_del c.2554 p.D852fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 65 0 0.00 30 13 30.23 LBH 0 genome.wustl.edu 37 2 30454499 30454499 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 30454499 30454499 G A SNP LBH ENST00000464412 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LBH HGNC ENSG00000213626 tier1 - - 37 0 0.00 22 5 18.52 LCN8 0 genome.wustl.edu 37 9 139649860 139649860 + RNA SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139649860 139649860 T C SNP LCN8 ENST00000480597 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors LCN8 HGNC ENSG00000204001 tier1 - - 44 0 0.00 30 10 25.00 LCOR 0 genome.wustl.edu 37 10 98714922 98714922 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 98714922 98714922 A T SNP LCOR ENST00000356016 human ensembl 74_37 +1 known missense c.545 p.N182I 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 tier1 - - 104 0 0.00 59 21 26.25 LDHA 0 genome.wustl.edu 37 11 18424437 18424437 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18424437 18424437 C T SNP LDHA ENST00000540430 human ensembl 74_37 +1 known missense c.556 p.R186C 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 tier1 - - 122 0 0.00 104 9 7.96 LECT1 0 genome.wustl.edu 37 13 53286891 53286891 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 53286891 53286891 A G SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known silent c.582 p.G194 0.207 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 tier1 - - 133 0 0.00 160 21 11.60 LEFTY2 0 genome.wustl.edu 37 1 226125452 226125452 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 226125452 226125452 A G SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known missense c.790 p.C264R 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 tier1 - - 41 0 0.00 29 6 17.14 LEPREL2 0 genome.wustl.edu 37 12 6939061 6939063 + In_Frame_Del DEL CTT CTT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 6939061 6939063 CTT - DEL LEPREL2 ENST00000396725 human ensembl 74_37 +1 known in_frame_del c.534_536 p.F180in_frame_del 1.000:1.000:1.000 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 tier1 233 0 0.00 208 29 12.24 LHB 0 genome.wustl.edu 37 19 49519922 49519922 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49519922 49519922 C T SNP LHB ENST00000221421 human ensembl 74_37 -1 known missense c.65 p.R22K 0.997 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC ENSG00000104826 tier1 - - 163 0 0.00 107 24 18.32 LIG3 0 genome.wustl.edu 37 17 33318078 33318078 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33318078 33318078 T - DEL LIG3 ENST00000378526 human ensembl 74_37 +1 known frame_shift_del c.986 p.F330fs 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 tier1 134 0 0.00 97 24 19.83 LIG3 0 genome.wustl.edu 37 17 33323127 33323127 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33323127 33323127 C T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known silent c.1656 p.G552 1.000 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 tier1 - - 73 0 0.00 45 12 21.05 LILRB1 0 genome.wustl.edu 37 19 55143553 55143553 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55143553 55143553 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.526 p.G176R 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 182 0 0.00 156 47 23.15 LILRB4 0 genome.wustl.edu 37 19 55174491 55174491 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55174491 55174491 C A SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.6 p.I2 0.001 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 125 0 0.00 77 11 12.50 LIM2 0 genome.wustl.edu 37 19 51890410 51890410 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 51890410 51890410 C A SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.288 p.K96N 0.001 NULL pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 tier1 - - 29 0 0.00 25 7 21.88 LIMCH1 0 genome.wustl.edu 37 4 41621388 41621389 + Frame_Shift_Ins INS - - AG TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 41621388 41621389 - AG INS LIMCH1 ENST00000503057 human ensembl 74_37 +1 known frame_shift_ins c.389_390 p.E134fs 0.003:0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 120 0 0.00 94 15 13.76 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 tier1 123 0 0.00 66 22 25.00 LIPH 0 genome.wustl.edu 37 3 185252634 185252634 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 185252634 185252634 A G SNP LIPH ENST00000296252 human ensembl 74_37 -1 known silent c.336 p.A112 0.964 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 - - 108 0 0.00 74 5 6.33 LIX1 0 genome.wustl.edu 37 5 96460266 96460266 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96460266 96460266 A G SNP LIX1 ENST00000274382 human ensembl 74_37 -1 known silent c.150 p.S50 1.000 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 tier1 - - 104 0 0.00 78 8 9.30 LNPEP 0 genome.wustl.edu 37 5 96315249 96315249 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96315249 96315249 A - DEL LNPEP ENST00000231368 human ensembl 74_37 +1 known frame_shift_del c.427 p.N145fs 0.910 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 126 0 0.00 121 17 12.32 LNPEP 0 genome.wustl.edu 37 5 96333777 96333777 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96333777 96333777 T C SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known silent c.1581 p.S527 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 63 0 0.00 58 5 7.94 LOC101927969 0 genome.wustl.edu 37 5 168134956 168134957 + RNA INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 168134956 168134957 - G INS LOC101927969 ENST00000522615 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000254042 tier1 37 0 0.00 49 7 12.50 LPA 0 genome.wustl.edu 37 6 160963770 160963770 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 160963770 160963770 C - DEL LPA ENST00000316300 human ensembl 74_37 -1 known frame_shift_del c.5469 p.C1824fs 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 125 0 0.00 81 18 18.18 LPAL2 0 genome.wustl.edu 37 6 160887595 160887595 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 160887595 160887595 T - DEL LPAL2 ENST00000606083 human ensembl 74_37 -1 known rna NULL NULL 0.621 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 8 0 0.00 8 4 33.33 LRFN4 0 genome.wustl.edu 37 11 66625383 66625383 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 66625383 66625383 T C SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known silent c.168 p.A56 0.021 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 tier1 - - 67 0 0.00 42 15 26.32 LRFN5 0 genome.wustl.edu 37 14 42355861 42355861 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 42355861 42355861 T A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known silent c.33 p.I11 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 44 0 0.00 39 14 26.42 LRP1 0 genome.wustl.edu 37 12 57588842 57588842 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57588842 57588842 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.8266 p.S2756G 0.499 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 287 0 0.00 238 34 12.50 LRP1B 0 genome.wustl.edu 37 2 141259315 141259315 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 141259315 141259315 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8791 p.L2931V 0.933 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 105 0 0.00 55 12 17.91 LRP2BP 0 genome.wustl.edu 37 4 186299233 186299233 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 186299233 186299233 A G SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known splice_site c.106+2 e1+2 0.934 - - - no_errors LRP2BP HGNC ENSG00000109771 tier1 - - 57 0 0.00 40 7 14.89 LRP4 0 genome.wustl.edu 37 11 46897504 46897504 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 46897504 46897504 T C SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.3550 p.T1184A 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 56 0 0.00 43 7 14.00 LRRC16A 0 genome.wustl.edu 37 6 25600666 25600666 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 25600666 25600666 C T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel nonsense c.3244 p.R1082* 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 106 0 0.00 73 24 24.74 LRRC16A 0 genome.wustl.edu 37 6 25600904 25600904 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 25600904 25600904 A G SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3482 p.Q1161R 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 30 0 0.00 16 6 26.09 LRRC17 0 genome.wustl.edu 37 7 102584868 102584868 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 102584868 102584868 G A SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known silent c.1140 p.T380 0.034 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 tier1 - - 130 0 0.00 117 26 18.18 LRRC36 0 genome.wustl.edu 37 16 67409201 67409201 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67409201 67409201 C - DEL LRRC36 ENST00000329956 human ensembl 74_37 +1 known frame_shift_del c.1546 p.I518fs 1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 tier1 499 0 0.00 390 80 17.02 LRRC37A2 0 genome.wustl.edu 37 17 44626866 44626866 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 44626866 44626866 T C SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known missense c.4361 p.L1454P 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 tier1 rs202051157 - 44 0 0.00 35 4 10.26 LRRC37B 0 genome.wustl.edu 37 17 30349562 30349562 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 30349562 30349562 C T SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.1397 p.A466V 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 tier1 - - 161 0 0.00 124 27 17.88 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 tier1 33 0 0.00 20 4 16.67 LRRC41 0 genome.wustl.edu 37 1 46751711 46751711 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 46751711 46751711 C T SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.818 p.R273Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 tier1 - - 62 0 0.00 41 13 24.07 LRRC46 0 genome.wustl.edu 37 17 45913838 45913838 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 45913838 45913838 C T SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known nonsense c.592 p.R198* 0.642 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 tier1 - - 76 0 0.00 46 26 36.11 LRRC49 0 genome.wustl.edu 37 15 71197048 71197049 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 71197048 71197049 - T INS LRRC49 ENST00000260382 human ensembl 74_37 +1 known frame_shift_ins c.454_455 p.S153fs 0.999:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 tier1 251 0 0.00 189 41 17.83 LRRC7 0 genome.wustl.edu 37 1 70505179 70505179 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 70505179 70505179 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.3558 p.A1186 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 57 0 0.00 53 11 17.19 LRRN4 0 genome.wustl.edu 37 20 6032880 6032880 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 6032880 6032880 C - DEL LRRN4 ENST00000378858 human ensembl 74_37 -1 known frame_shift_del c.566 p.G189fs 0.886 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 tier1 12 0 0.00 9 2 18.18 LRRN4CL 0 genome.wustl.edu 37 11 62455848 62455848 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62455848 62455848 C T SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.133 p.A45T 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 tier1 - - 66 0 0.00 45 8 15.09 LRRTM1 0 genome.wustl.edu 37 2 80530420 80530420 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 80530420 80530420 A G SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.525 p.F175 0.979 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 97 0 0.00 59 21 26.25 LRSAM1 0 genome.wustl.edu 37 9 130224623 130224623 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130224623 130224623 C T SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known nonsense c.499 p.Q167* 0.966 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 tier1 - - 134 0 0.00 108 23 17.56 LRTOMT 0 genome.wustl.edu 37 11 71806460 71806460 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 71806460 71806460 C T SNP LRTOMT ENST00000289488 human ensembl 74_37 +1 known missense c.473 p.T158M 0.992 NULL NULL - no_errors LRTOMT HGNC ENSG00000184154 tier1 - - 87 0 0.00 92 12 11.43 LTBP1 0 genome.wustl.edu 37 2 33413835 33413835 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 33413835 33413835 C A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1618 p.H540N 0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 205 0 0.00 153 20 11.56 LTBP3 0 genome.wustl.edu 37 11 65310639 65310639 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65310639 65310639 T A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.2533 p.N845Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 - - 167 0 0.00 122 16 11.59 LTBP3 0 genome.wustl.edu 37 11 65314283 65314283 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65314283 65314283 C - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_del c.2216 p.G739fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 82 0 0.00 60 17 22.08 LTN1 0 genome.wustl.edu 37 21 30316743 30316743 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 30316743 30316743 A T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.4082 p.I1361N 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 tier1 - - 91 0 0.00 61 11 15.28 LY6E 0 genome.wustl.edu 37 8 144103031 144103031 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144103031 144103031 C T SNP LY6E ENST00000292494 human ensembl 74_37 +1 known missense c.221 p.A74V 0.618 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6E HGNC ENSG00000160932 tier1 - - 145 0 0.00 152 25 14.12 LY6G5C 0 genome.wustl.edu 37 6 31644849 31644849 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31644849 31644849 A G SNP LY6G5C ENST00000383237 human ensembl 74_37 -1 known missense c.338 p.M113T 0.022 NULL NULL - no_errors LY6G5C HGNC ENSG00000204428 tier1 - - 139 0 0.00 135 14 9.40 LY96 0 genome.wustl.edu 37 8 74903748 74903748 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 74903748 74903748 T C SNP LY96 ENST00000284818 human ensembl 74_37 +1 known missense c.71 p.V24A 0.824 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY96 HGNC ENSG00000154589 tier1 - - 156 0 0.00 133 30 18.40 LZTR1 0 genome.wustl.edu 37 22 21347167 21347167 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 21347167 21347167 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1234 p.R412C 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 23 0 0.00 19 4 17.39 MAB21L2 0 genome.wustl.edu 37 4 151504263 151504263 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 151504263 151504263 G A SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.82 p.A28T 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 tier1 - - 48 0 0.00 38 7 15.56 MAB21L3 0 genome.wustl.edu 37 1 116666771 116666771 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 116666771 116666771 T C SNP MAB21L3 ENST00000369500 human ensembl 74_37 +1 known missense c.274 p.Y92H 0.992 NULL pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 tier1 - - 133 0 0.00 87 19 17.92 MAD1L1 0 genome.wustl.edu 37 7 2054221 2054221 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 2054221 2054221 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known silent c.1275 p.A425 0.002 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 tier1 - - 54 0 0.00 32 7 17.95 MAGEA3 0 genome.wustl.edu 37 X 151935799 151935799 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 151935799 151935799 T C SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.368 p.K123R 0.038 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 tier1 - - 283 0 0.00 199 24 10.76 MAGEB4 0 genome.wustl.edu 37 X 30260340 30260340 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 30260340 30260340 C T SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.88 p.P30S 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 tier1 - - 57 0 0.00 33 13 28.26 MAGEE1 0 genome.wustl.edu 37 X 75649437 75649437 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 75649437 75649437 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1114 p.A372T 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 55 0 0.00 27 4 12.90 MAGI1 0 genome.wustl.edu 37 3 65342509 65342509 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 65342509 65342509 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known silent c.3933 p.R1311 0.005 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 - - 115 0 0.00 85 19 18.27 MAGIX 0 genome.wustl.edu 37 X 49021219 49021219 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 49021219 49021219 T A SNP MAGIX ENST00000412696 human ensembl 74_37 +1 known missense c.298 p.C100S 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 tier1 - - 302 0 0.00 180 51 22.08 MAK 0 genome.wustl.edu 37 6 10764689 10764689 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 10764689 10764689 C T SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1868 p.R623Q 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 MAK HGNC ENSG00000111837 tier1 - - 57 0 0.00 48 10 17.24 MALAT1 0 genome.wustl.edu 37 11 65266625 65266625 + RNA SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65266625 65266625 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 61 0 0.00 32 7 17.95 MALAT1 0 genome.wustl.edu 37 11 65268480 65268482 + RNA DEL TTT TTT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65268480 65268482 TTT - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 119 0 0.00 93 19 16.96 MALAT1 0 genome.wustl.edu 37 11 65268696 65268696 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65268696 65268696 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 48 0 0.00 38 14 26.92 MALAT1 0 genome.wustl.edu 37 11 65269191 65269191 + RNA SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65269191 65269191 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 88 0 0.00 51 20 28.17 MALAT1 0 genome.wustl.edu 37 11 65270096 65270096 + RNA SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65270096 65270096 T A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 74 0 0.00 71 8 10.13 MALAT1 0 genome.wustl.edu 37 11 65270819 65270819 + RNA SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65270819 65270819 T A SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 55 0 0.00 40 4 9.09 MAN2C1 0 genome.wustl.edu 37 15 75648256 75648256 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 75648256 75648256 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.3114 p.P1038 0.063 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 tier1 - - 57 0 0.00 46 15 24.59 MAP1B 0 genome.wustl.edu 37 5 71491223 71491223 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 71491223 71491223 A - DEL MAP1B ENST00000296755 human ensembl 74_37 +1 known frame_shift_del c.2041 p.E683fs 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 15 0 0.00 11 4 26.67 MAP3K4 0 genome.wustl.edu 37 6 161470589 161470589 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 161470589 161470589 A T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1285 p.I429F 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 - - 113 0 0.00 69 6 8.00 MAPK4 0 genome.wustl.edu 37 18 48255583 48255583 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 48255583 48255583 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.1123 p.A375T 0.015 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_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 tier1 - - 100 0 0.00 82 8 8.89 MARCH1 0 genome.wustl.edu 37 4 164534608 164534608 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 164534608 164534608 T - DEL MARCH1 ENST00000339875 human ensembl 74_37 -1 known frame_shift_del c.49 p.S17fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 79 0 0.00 73 8 9.88 MARCKS 0 genome.wustl.edu 37 6 114181210 114181210 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 114181210 114181210 A - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454 p.K155fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 tier1 24 0 0.00 15 4 21.05 MARCO 0 genome.wustl.edu 37 2 119729110 119729110 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 119729110 119729110 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.460 p.G154C 1.000 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 151 0 0.00 108 30 21.58 MASP1 0 genome.wustl.edu 37 3 186953746 186953746 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 186953746 186953746 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1913 p.S638L 0.964 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 89 0 0.00 57 22 27.85 MBD1 0 genome.wustl.edu 37 18 47796137 47796137 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 47796137 47796137 G A SNP MBD1 ENST00000587605 human ensembl 74_37 -1 known missense c.1517 p.P506L 0.016 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 tier1 rs140260782 - 79 0 0.00 38 21 35.59 MBTPS1 0 genome.wustl.edu 37 16 84103645 84103646 + Splice_Site INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 84103645 84103646 - A INS MBTPS1 ENST00000343411 human ensembl 74_37 -1 known splice_site_ins c.1783-3_1783-2 e13-2 1.000:0.070 - - - no_errors MBTPS1 HGNC ENSG00000140943 tier1 126 0 0.00 89 19 17.59 MBTPS2 0 genome.wustl.edu 37 X 21896681 21896681 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 21896681 21896681 A - DEL MBTPS2 ENST00000379484 human ensembl 74_37 +1 known frame_shift_del c.1132 p.S380fs 0.994 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 tier1 236 0 0.00 188 21 10.05 MC5R 0 genome.wustl.edu 37 18 13825821 13825821 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 13825821 13825821 C T SNP MC5R ENST00000324750 human ensembl 74_37 +1 known silent c.57 p.G19 0.526 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 tier1 - - 90 0 0.00 61 22 26.51 MCAM 0 genome.wustl.edu 37 11 119182586 119182586 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119182586 119182586 C T SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.1217 p.R406H 1.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 tier1 - - 254 0 0.00 167 39 18.93 MCF2 0 genome.wustl.edu 37 X 138687910 138687911 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 138687910 138687911 CA - DEL MCF2 ENST00000370578 human ensembl 74_37 -1 known frame_shift_del c.1954_1953 p.R653fs 0.999:0.002 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 326 0 0.00 235 33 12.31 MCF2L2 0 genome.wustl.edu 37 3 182994664 182994664 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 182994664 182994664 G - DEL MCF2L2 ENST00000328913 human ensembl 74_37 -1 known frame_shift_del c.1858 p.R620fs 0.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 21 0 0.00 10 4 28.57 MCM10 0 genome.wustl.edu 37 10 13213021 13213021 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 13213021 13213021 A C SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.107 p.N36T 0.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 tier1 - - 310 0 0.00 242 35 12.64 MCM7 0 genome.wustl.edu 37 7 99691937 99691937 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 99691937 99691937 C T SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known silent c.1707 p.K569 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 tier1 - - 115 0 0.00 101 26 20.47 MCMBP 0 genome.wustl.edu 37 10 121602088 121602088 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 121602088 121602088 G A SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known silent c.1026 p.S342 0.000 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 tier1 - - 112 0 0.00 88 10 10.20 MCPH1 0 genome.wustl.edu 37 8 6293605 6293605 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 6293605 6293605 A C SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.358 p.T120P 0.996 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 tier1 - - 103 0 0.00 60 10 14.08 ME2 0 genome.wustl.edu 37 18 48434457 48434457 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 48434457 48434457 C T SNP ME2 ENST00000321341 human ensembl 74_37 +1 known nonsense c.133 p.R45* 1.000 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 75 0 0.00 51 4 7.27 MED12L 0 genome.wustl.edu 37 3 150804783 150804783 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 150804783 150804783 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.70 p.V24I 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 36 0 0.00 18 5 21.74 MED14 0 genome.wustl.edu 37 X 40552103 40552103 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 40552103 40552103 A G SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.1702 p.Y568H 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 48 0 0.00 32 7 17.95 MED15 0 genome.wustl.edu 37 22 20920870 20920870 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 20920870 20920870 A G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.807 p.P269 0.002 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 - - 143 0 0.00 108 11 9.24 MED15 0 genome.wustl.edu 37 22 20920873 20920873 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 20920873 20920873 T G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.810 p.I270M 0.010 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 - - 146 0 0.00 106 11 9.40 MED23 0 genome.wustl.edu 37 6 131915392 131915392 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 131915392 131915392 C T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3097 p.V1033I 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 - - 128 0 0.00 70 18 20.45 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 tier1 21 0 0.00 14 10 41.67 MEGF10 0 genome.wustl.edu 37 5 126774179 126774179 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 126774179 126774179 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.2153 p.C718Y 1.000 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 206 0 0.00 139 23 14.20 MEGF10 0 genome.wustl.edu 37 5 126776437 126776437 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 126776437 126776437 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.2240 p.P747L 1.000 smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 192 0 0.00 146 34 18.89 MEGF11 0 genome.wustl.edu 37 15 66191139 66191139 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 66191139 66191139 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.2901 p.S967 0.291 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 tier1 rs150630016 - 106 0 0.00 104 18 14.75 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 tier1 96 0 0.00 66 19 22.35 METTL21B 0 genome.wustl.edu 37 12 58174307 58174307 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 58174307 58174307 G A SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known missense c.559 p.G187R 0.903 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 tier1 - - 55 0 0.00 18 11 37.93 METTL3 0 genome.wustl.edu 37 14 21966442 21966442 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 21966442 21966442 C A SNP METTL3 ENST00000298717 human ensembl 74_37 -1 known missense c.1703 p.R568M 1.000 pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL3 HGNC ENSG00000165819 tier1 - - 111 0 0.00 98 11 10.09 METTL8 0 genome.wustl.edu 37 2 172187108 172187108 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 172187108 172187108 A G SNP METTL8 ENST00000392604 human ensembl 74_37 -1 known missense c.821 p.I274T 1.000 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 tier1 - - 95 0 0.00 55 16 22.54 MFAP1 0 genome.wustl.edu 37 15 44102107 44102107 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 44102107 44102107 T C SNP MFAP1 ENST00000267812 human ensembl 74_37 -1 known missense c.893 p.E298G 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 tier1 - - 267 0 0.00 194 58 23.02 MFAP3L 0 genome.wustl.edu 37 4 170926834 170926835 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170926834 170926835 - A INS MFAP3L ENST00000361618 human ensembl 74_37 -1 known frame_shift_ins c.195_194 p.L65fs 1.000:1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 tier1 156 0 0.00 128 19 12.93 MFSD4 0 genome.wustl.edu 37 1 205549930 205549930 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 205549930 205549930 C G SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known missense c.571 p.L191V 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 tier1 - - 100 0 0.00 86 6 6.52 MFSD9 0 genome.wustl.edu 37 2 103335430 103335430 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 103335430 103335430 G A SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known missense c.874 p.R292C 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 tier1 - - 90 0 0.00 55 13 19.12 MICA 0 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31380161 31380161 G - DEL MICA ENST00000449934 human ensembl 74_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICA HGNC ENSG00000204520 tier1 8 0 0.00 8 4 33.33 MICAL1 0 genome.wustl.edu 37 6 109767595 109767595 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 109767595 109767595 C G SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.2382 p.E794D 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 163 0 0.00 123 12 8.89 MICU3 0 genome.wustl.edu 37 8 16942810 16942810 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 16942810 16942810 A - DEL MICU3 ENST00000318063 human ensembl 74_37 +1 known frame_shift_del c.760 p.E256fs 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 tier1 122 0 0.00 123 15 10.87 MID2 0 genome.wustl.edu 37 X 107084614 107084614 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 107084614 107084614 A C SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.719 p.K240T 1.000 smart_Bbox_C 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 - - 89 0 0.00 57 16 21.92 MIEF2 0 genome.wustl.edu 37 17 18166173 18166173 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 18166173 18166173 G - DEL MIEF2 ENST00000323019 human ensembl 74_37 +1 known frame_shift_del c.139 p.V47fs 1.000 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 tier1 62 0 0.00 67 11 14.10 MINPP1 0 genome.wustl.edu 37 10 89272954 89272954 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 89272954 89272954 T C SNP MINPP1 ENST00000371996 human ensembl 74_37 +1 known silent c.909 p.D303 0.998 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 tier1 - - 96 0 0.00 76 20 20.83 MIP 0 genome.wustl.edu 37 12 56846858 56846858 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56846858 56846858 A G SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.604 p.W202R 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 tier1 - - 118 0 0.00 63 17 21.25 MIR124-2 0 genome.wustl.edu 37 8 65291788 65291788 + RNA SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 65291788 65291788 A C SNP MIR124-2 ENST00000385081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-2 HGNC ENSG00000207816 tier1 - - 27 0 0.00 13 4 23.53 MIR1303 0 genome.wustl.edu 37 5 154065381 154065383 + RNA DEL TTA TTA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTA TTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 154065381 154065383 TTA - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors MIR1303 HGNC ENSG00000221552 tier1 74 0 0.00 56 13 18.84 MITD1 0 genome.wustl.edu 37 2 99788042 99788042 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 99788042 99788042 A - DEL MITD1 ENST00000289359 human ensembl 74_37 -1 known frame_shift_del c.321 p.R108fs 1.000 NULL pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 tier1 38 0 0.00 40 5 11.11 MKNK2 0 genome.wustl.edu 37 19 2043141 2043141 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 2043141 2043141 A C SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.475 p.F159V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 tier1 - - 362 0 0.00 263 26 9.00 MLLT3 0 genome.wustl.edu 37 9 20414301 20414301 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 20414301 20414301 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.543 p.S181 0.026 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 117 0 0.00 106 6 5.36 MLLT4 0 genome.wustl.edu 37 6 168265375 168265375 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 168265375 168265375 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known nonsense c.250 p.R84* 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 242 0 0.00 184 39 17.49 MLST8 0 genome.wustl.edu 37 16 2257280 2257280 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2257280 2257280 C T SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known silent c.507 p.P169 0.013 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 tier1 - - 243 0 0.00 169 26 13.33 MLXIPL 0 genome.wustl.edu 37 7 73012008 73012008 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 73012008 73012008 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known silent c.1107 p.S369 0.961 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 tier1 - - 87 0 0.00 62 11 15.07 MMEL1 0 genome.wustl.edu 37 1 2541187 2541187 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 2541187 2541187 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.376 p.R126C 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 tier1 - - 81 0 0.00 73 9 10.98 MMP1 0 genome.wustl.edu 37 11 102663443 102663443 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102663443 102663443 T C SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known missense c.926 p.Y309C 0.001 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 tier1 - - 171 0 0.00 113 10 8.13 MMP14 0 genome.wustl.edu 37 14 23311827 23311827 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23311827 23311827 G A SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.589 p.G197S 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 tier1 - - 105 0 0.00 83 21 20.19 MMP20 0 genome.wustl.edu 37 11 102465465 102465465 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102465465 102465465 T C SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.977 p.H326R 0.987 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 tier1 - - 57 0 0.00 54 8 12.90 MMP3 0 genome.wustl.edu 37 11 102713455 102713455 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102713455 102713455 A C SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.298 p.F100V 0.997 pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 46 0 0.00 39 7 15.22 MMP3 0 genome.wustl.edu 37 11 102713563 102713563 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102713563 102713563 T - DEL MMP3 ENST00000299855 human ensembl 74_37 -1 known frame_shift_del c.190 p.I64fs 0.965 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 35 0 0.00 22 8 26.67 MN1 0 genome.wustl.edu 37 22 28196403 28196403 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 28196403 28196403 C 0 DEL MN1 ENST00000302326 human ensembl 74_37 -1 known frame_shift_del c.129 p.P45fs 0.973 NULL NULL - no_errors MN1 HGNC ENSG00000169184 117 0 0.00 112 11 8.94 MNT 0 genome.wustl.edu 37 17 2290871 2290871 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 2290871 2290871 C T SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.1073 p.R358H 0.859 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 tier1 - - 498 0 0.00 348 76 17.92 MON1B 0 genome.wustl.edu 37 16 77228315 77228316 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 77228315 77228316 - G INS MON1B ENST00000248248 human ensembl 74_37 +1 known frame_shift_ins c.559_560 p.E189fs 0.992:0.988 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 tier1 203 0 0.00 140 28 16.67 MPHOSPH9 0 genome.wustl.edu 37 12 123647579 123647579 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 123647579 123647579 T - DEL MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known frame_shift_del c.2555 p.N852fs 0.989 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 61 0 0.00 61 6 8.96 MPV17 0 genome.wustl.edu 37 2 27535898 27535898 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27535898 27535898 C T SNP MPV17 ENST00000233545 human ensembl 74_37 -1 known missense c.149 p.R50Q 1.000 NULL pfam_Mpv17_PMP22 - no_errors MPV17 HGNC ENSG00000115204 tier1 rs121909721 - 163 0 0.00 127 12 8.63 MRC2 0 genome.wustl.edu 37 17 60742222 60742222 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 60742222 60742222 T C SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.432 p.P144 0.282 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 94 0 0.00 85 9 9.47 MRGPRX4 0 genome.wustl.edu 37 11 18194860 18194860 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18194860 18194860 G T SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known missense c.57 p.E19D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 tier1 - - 245 0 0.00 203 40 16.46 MROH6 0 genome.wustl.edu 37 8 144650731 144650731 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144650731 144650731 G A SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known silent c.1635 p.D545 0.011 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 12 0 0.00 11 3 21.43 MRPL17 0 genome.wustl.edu 37 11 6703513 6703513 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6703513 6703513 C A SNP MRPL17 ENST00000288937 human ensembl 74_37 -1 known missense c.364 p.V122L 1.000 pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 - no_errors MRPL17 HGNC ENSG00000158042 tier1 - - 129 0 0.00 92 20 17.86 MRPS23 0 genome.wustl.edu 37 17 55917298 55917298 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 55917298 55917298 T C SNP MRPS23 ENST00000313608 human ensembl 74_37 -1 known splice_site c.421-2 e5-2 0.698 - - - no_errors MRPS23 HGNC ENSG00000181610 tier1 - - 105 0 0.00 66 18 21.43 MRPS5 0 genome.wustl.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 95775728 95775728 T - DEL MRPS5 ENST00000272418 human ensembl 74_37 -1 known frame_shift_del c.336 p.G113fs 0.999 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 tier1 146 0 0.00 107 28 20.74 MSLN 0 genome.wustl.edu 37 16 816088 816088 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 816088 816088 C T SNP MSLN ENST00000382862 human ensembl 74_37 +1 known missense c.925 p.R309C 0.000 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 30 0 0.00 35 4 10.00 MT1JP 0 genome.wustl.edu 37 16 56670909 56670909 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 56670909 56670909 T - DEL MT1JP ENST00000563395 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 tier1 47 0 0.00 19 8 29.63 MTAP 0 genome.wustl.edu 37 9 21816756 21816756 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 21816756 21816756 G A SNP MTAP ENST00000380172 human ensembl 74_37 +1 known missense c.164 p.C55Y 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP - no_errors MTAP HGNC ENSG00000099810 tier1 - - 337 0 0.00 228 50 17.92 MTCH2 0 genome.wustl.edu 37 11 47648652 47648652 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47648652 47648652 A T SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known missense c.661 p.Y221N 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH2 HGNC ENSG00000109919 tier1 - - 48 0 0.00 23 14 37.84 MTOR 0 genome.wustl.edu 37 1 11204706 11204706 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 11204706 11204706 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4871 p.Q1624R 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 71 0 0.00 52 6 10.34 MTPAP 0 genome.wustl.edu 37 10 30629220 30629220 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 30629220 30629220 G A SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.880 p.R294W 0.012 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 tier1 rs199777853 - 98 0 0.00 63 17 21.25 MUC16 0 genome.wustl.edu 37 19 9057431 9057431 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9057431 9057431 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30015 p.E10005D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 124 0 0.00 98 21 17.65 MUC16 0 genome.wustl.edu 37 19 9062515 9062515 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9062515 9062515 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24931 p.M8311V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 149 0 0.00 85 15 15.00 MUC16 0 genome.wustl.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9064309 9064310 - G INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.23137_23136 p.S7712fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 116 0 0.00 73 16 17.98 MUC16 0 genome.wustl.edu 37 19 9067750 9067750 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9067750 9067750 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.19696 p.L6566 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 83 0 0.00 92 11 10.68 MUC16 0 genome.wustl.edu 37 19 9087688 9087688 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9087688 9087688 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4127 p.L1376P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 142 0 0.00 108 30 21.74 MUC17 0 genome.wustl.edu 37 7 100683507 100683507 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100683507 100683507 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8810 p.T2937N 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 539 0 0.00 352 95 21.25 MUC2 0 genome.wustl.edu 37 11 1086014 1086014 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 1086014 1086014 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.2854 p.R952W 0.036 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 76 0 0.00 48 17 26.15 MUC5B 0 genome.wustl.edu 37 11 1272919 1272919 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 1272919 1272919 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.14818 p.S4940P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 118 0 0.00 71 12 14.46 MUC5B 0 genome.wustl.edu 37 11 1275426 1275426 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 1275426 1275426 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.15331 p.R5111C 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 85 0 0.00 69 11 13.75 MUT 0 genome.wustl.edu 37 6 49403193 49403193 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 49403193 49403193 C T SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.2100 p.M700I 1.000 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 tier1 - - 71 0 0.00 39 11 22.00 MXD3 0 genome.wustl.edu 37 5 176734602 176734602 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176734602 176734602 C G SNP MXD3 ENST00000439742 human ensembl 74_37 -1 known missense c.608 p.G203A 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 tier1 - - 68 0 0.00 60 11 15.49 MXRA5 0 genome.wustl.edu 37 X 3240252 3240252 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 3240252 3240252 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.3474 p.R1158 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 199 0 0.00 137 29 17.47 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 tier1 41 0 0.00 15 10 40.00 MYCBP2 0 genome.wustl.edu 37 13 77631192 77631192 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 77631192 77631192 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.13366 p.R4456W 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 rs151151149 - 178 0 0.00 149 28 15.82 MYH10 0 genome.wustl.edu 37 17 8383629 8383629 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8383629 8383629 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5366 p.T1789I 0.878 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 140 0 0.00 103 25 19.53 MYH11 0 genome.wustl.edu 37 16 15802687 15802687 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 15802687 15802687 G - DEL MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_del c.5819 p.P1940fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 tier1 12 0 0.00 10 5 33.33 MYH7 0 genome.wustl.edu 37 14 23892782 23892782 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23892782 23892782 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3073 p.V1025I 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 335 0 0.00 234 60 20.41 MYH8 0 genome.wustl.edu 37 17 10296257 10296257 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 10296257 10296257 A G SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.5354 p.M1785T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 262 0 0.00 200 26 11.50 MYH9 0 genome.wustl.edu 37 22 36684892 36684892 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 36684892 36684892 T C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4651 p.T1551A 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 180 0 0.00 123 25 16.89 MYO1B 0 genome.wustl.edu 37 2 192228909 192228909 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 192228909 192228909 C T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known silent c.939 p.T313 0.721 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 tier1 - - 142 0 0.00 85 9 9.57 MYOCD 0 genome.wustl.edu 37 17 12626278 12626278 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 12626278 12626278 A 0 DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.368 p.N125fs 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 298 0 0.00 215 22 9.28 MYOM2 0 genome.wustl.edu 37 8 2063871 2063871 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 2063871 2063871 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.3300 p.Q1100 0.996 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM2 HGNC ENSG00000036448 tier1 - - 106 0 0.00 86 13 13.13 MYOZ3 0 genome.wustl.edu 37 5 150050180 150050180 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 150050180 150050180 T G SNP MYOZ3 ENST00000297130 human ensembl 74_37 +1 known missense c.196 p.L66V 0.013 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ3 HGNC ENSG00000164591 tier1 - - 25 0 0.00 21 11 34.38 MYT1 0 genome.wustl.edu 37 20 62871174 62871174 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62871174 62871174 A C SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.3236 p.Q1079P 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 187 0 0.00 123 37 23.12 N4BP3 0 genome.wustl.edu 37 5 177548911 177548911 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 177548911 177548911 A G SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known missense c.1544 p.Y515C 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 tier1 - - 33 0 0.00 39 9 18.75 NACA 0 genome.wustl.edu 37 12 57113614 57113614 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57113614 57113614 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.1700 p.P567L 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 - - 74 0 0.00 51 5 8.93 NAIF1 0 genome.wustl.edu 37 9 130829334 130829334 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130829334 130829334 T C SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known missense c.47 p.E16G 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 tier1 - - 322 0 0.00 252 30 10.64 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 tier1 100 0 0.00 104 19 15.45 NBN 0 genome.wustl.edu 37 8 90965666 90965666 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 90965666 90965666 T 0 DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.1651 p.R551fs 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 181 0 0.00 154 10 6.10 NCDN 0 genome.wustl.edu 37 1 36025969 36025969 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36025969 36025969 C T SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.217 p.R73W 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 - - 288 0 0.00 245 22 8.24 NCOA3 0 genome.wustl.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 46279833 46279833 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3759 p.Q1253 0.406 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,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 NCOA3 HGNC ENSG00000124151 tier1 - - 68 0 0.00 45 10 18.18 NCOA7 0 genome.wustl.edu 37 6 126210258 126210258 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 126210258 126210258 A G SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.1058 p.K353R 0.981 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 tier1 - - 166 0 0.00 126 17 11.89 NCOR2 0 genome.wustl.edu 37 12 124950766 124950766 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 124950766 124950766 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.658 p.E220K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 230 0 0.00 119 43 26.54 NDUFAF7 0 genome.wustl.edu 37 2 37468910 37468910 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 37468910 37468910 C T SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known nonsense c.598 p.R200* 0.997 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 tier1 rs112146323 - 82 0 0.00 64 11 14.67 NECAP2 0 genome.wustl.edu 37 1 16774557 16774557 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 16774557 16774557 C T SNP NECAP2 ENST00000443980 human ensembl 74_37 +1 known nonsense c.301 p.R101* 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 tier1 - - 218 0 0.00 146 37 20.22 NEK1 0 genome.wustl.edu 37 4 170523229 170523229 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170523229 170523229 T C SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.144 p.S48 0.996 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_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 NEK1 HGNC ENSG00000137601 tier1 - - 121 0 0.00 93 23 19.83 NF1 0 genome.wustl.edu 37 17 29687536 29687538 + In_Frame_Del DEL TTG TTG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 29687536 29687538 TTG - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known in_frame_del c.8192_8194 p.V2732in_frame_del 1.000:0.999:1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 169 0 0.00 127 40 23.95 NFE2L1 0 genome.wustl.edu 37 17 46128992 46128992 + Splice_Site SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 46128992 46128992 T G SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known splice_site c.510+2 e1+2 1.000 - - - no_errors NFE2L1 HGNC ENSG00000082641 tier1 - - 133 0 0.00 90 28 23.73 NFIA 0 genome.wustl.edu 37 1 61818185 61818185 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 61818185 61818185 A G SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.899 p.Y300C 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 tier1 - - 98 0 0.00 77 5 6.10 NFS1 0 genome.wustl.edu 37 20 34263044 34263044 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 34263044 34263044 T C SNP NFS1 ENST00000374092 human ensembl 74_37 -1 known missense c.871 p.M291V 0.975 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 tier1 - - 64 0 0.00 47 9 16.07 NFYB 0 genome.wustl.edu 37 12 104519899 104519899 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 104519899 104519899 G A SNP NFYB ENST00000240055 human ensembl 74_37 -1 known missense c.224 p.T75M 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors NFYB HGNC ENSG00000120837 tier1 - - 152 0 0.00 122 24 16.44 NHLRC2 0 genome.wustl.edu 37 10 115618425 115618425 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115618425 115618425 C T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known missense c.317 p.T106I 0.235 superfamily_Thioredoxin-like_fold pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 tier1 - - 217 0 0.00 173 19 9.90 NHLRC2 0 genome.wustl.edu 37 10 115664653 115664653 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115664653 115664653 A C SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known silent c.1782 p.L594 0.892 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 tier1 - - 121 0 0.00 94 9 8.65 NIM1 0 genome.wustl.edu 37 5 43280273 43280273 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 43280273 43280273 C T SNP NIM1 ENST00000326035 human ensembl 74_37 +1 known silent c.753 p.Y251 0.499 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_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 NIM1 Uniprot_gn ENSG00000177453 tier1 - - 139 0 0.00 96 10 9.43 NISCH 0 genome.wustl.edu 37 3 52491936 52491936 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52491936 52491936 T C SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.171 p.H57 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 tier1 - - 216 0 0.00 183 10 5.18 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 tier1 254 0 0.00 209 28 11.81 NKX3-2 0 genome.wustl.edu 37 4 13543850 13543850 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 13543850 13543850 G A SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.769 p.R257C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 tier1 - - 26 0 0.00 21 5 19.23 NLRP12 0 genome.wustl.edu 37 19 54327404 54327404 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 54327404 54327404 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.25 p.G9S 0.007 pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 66 0 0.00 75 8 9.64 NLRP5 0 genome.wustl.edu 37 19 56538966 56538966 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 56538966 56538966 G A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.1367 p.R456H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 rs200829045 - 52 0 0.00 42 12 22.22 NLRX1 0 genome.wustl.edu 37 11 119045329 119045329 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119045329 119045329 T C SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known silent c.1017 p.G339 0.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 190 0 0.00 143 28 16.18 NME4 0 genome.wustl.edu 37 16 450249 450249 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 450249 450249 G - DEL NME4 ENST00000444498 human ensembl 74_37 +1 known frame_shift_del c.471 p.A159fs 0.453 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME4 HGNC ENSG00000103202 tier1 119 0 0.00 67 17 20.24 NOC3L 0 genome.wustl.edu 37 10 96117098 96117098 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 96117098 96117098 A - DEL NOC3L ENST00000463649 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NOC3L HGNC ENSG00000173145 tier1 27 0 0.00 24 4 14.29 NOD2 0 genome.wustl.edu 37 16 50733771 50733771 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 50733771 50733771 T C SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.446 p.V149A 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 - - 96 0 0.00 90 8 8.16 NOL6 0 genome.wustl.edu 37 9 33464082 33464082 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33464082 33464082 G 0 DEL NOL6 ENST00000297990 human ensembl 74_37 -1 known frame_shift_del c.2857 p.Q953fs 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 166 0 0.00 146 15 9.32 NOS1 0 genome.wustl.edu 37 12 117681194 117681194 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 117681194 117681194 T - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2870 p.K957fs 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 132 0 0.00 75 25 25.00 NPAT 0 genome.wustl.edu 37 11 108032847 108032847 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 108032847 108032847 T - DEL NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_del c.3071 p.T1025fs 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 120 0 0.00 61 13 17.57 NPBWR1 0 genome.wustl.edu 37 8 53853315 53853315 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 53853315 53853315 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.848 p.P283L 1.000 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_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 tier1 - - 85 0 0.00 67 11 14.10 NPC1L1 0 genome.wustl.edu 37 7 44579278 44579278 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 44579278 44579278 C - DEL NPC1L1 ENST00000289547 human ensembl 74_37 -1 known frame_shift_del c.718 p.V240fs 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 tier1 110 0 0.00 83 9 9.78 NPHS1 0 genome.wustl.edu 37 19 36322039 36322039 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 36322039 36322039 T G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.3397 p.T1133P 0.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 179 0 0.00 138 16 10.39 NPTXR 0 genome.wustl.edu 37 22 39222542 39222542 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 39222542 39222542 G A SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.1061 p.A354V 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 tier1 - - 164 0 0.00 119 32 21.19 NPY2R 0 genome.wustl.edu 37 4 156136004 156136004 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 156136004 156136004 C T SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.913 p.L305F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 tier1 - - 81 0 0.00 56 19 25.33 NR2C1 0 genome.wustl.edu 37 12 95422176 95422176 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 95422176 95422176 T C SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known silent c.1518 p.V506 0.934 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 tier1 - - 55 0 0.00 35 5 12.50 NR3C2 0 genome.wustl.edu 37 4 149115967 149115967 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 149115967 149115967 A G SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.1956 p.D652 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 tier1 - - 105 0 0.00 64 5 7.25 NSDHL 0 genome.wustl.edu 37 X 152027360 152027360 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 152027360 152027360 C T SNP NSDHL ENST00000370274 human ensembl 74_37 +1 known missense c.314 p.A105V 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 tier1 rs104894909 - 190 0 0.00 114 8 6.50 NSUN3 0 genome.wustl.edu 37 3 93795255 93795255 + RNA SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 93795255 93795255 A G SNP NSUN3 ENST00000494128 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors NSUN3 HGNC ENSG00000178694 tier1 - - 46 0 0.00 42 8 16.00 NT5C1A 0 genome.wustl.edu 37 1 40131298 40131298 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40131298 40131298 G T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.328 p.L110M 0.968 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 tier1 - - 100 0 0.00 79 14 15.05 NTRK1 0 genome.wustl.edu 37 1 156845893 156845893 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 156845893 156845893 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.1523 p.R508Q 0.993 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 164 0 0.00 137 31 18.45 NUCB1 0 genome.wustl.edu 37 19 49422025 49422025 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49422025 49422025 C T SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.800 p.A267V 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 tier1 - - 55 0 0.00 52 8 13.33 NUDT17 0 genome.wustl.edu 37 1 145586679 145586679 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 145586679 145586679 C T SNP NUDT17 ENST00000334513 human ensembl 74_37 -1 known silent c.897 p.P299 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT17 HGNC ENSG00000186364 tier1 rs150364859 - 115 0 0.00 88 10 10.20 NUDT5 0 genome.wustl.edu 37 10 12219815 12219815 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 12219815 12219815 C - DEL NUDT5 ENST00000378937 human ensembl 74_37 -1 known frame_shift_del c.305 p.G102fs 0.960 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT5 HGNC ENSG00000165609 tier1 47 0 0.00 41 11 21.15 NUMB 0 genome.wustl.edu 37 14 73753990 73753990 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 73753990 73753990 A C SNP NUMB ENST00000355058 human ensembl 74_37 -1 known silent c.483 p.A161 0.340 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 34 0 0.00 40 3 6.98 NUP107 0 genome.wustl.edu 37 12 69085796 69085796 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 69085796 69085796 C T SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.352 p.R118C 0.997 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 51 0 0.00 42 9 17.65 NUP133 0 genome.wustl.edu 37 1 229580735 229580735 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 229580735 229580735 T C SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.3260 p.D1087G 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 tier1 - - 129 0 0.00 90 20 18.18 NUP214 0 genome.wustl.edu 37 9 134003995 134003995 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 134003995 134003995 A - DEL NUP214 ENST00000526412 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP214 HGNC ENSG00000126883 tier1 15 0 0.00 12 2 14.29 NUTM2A 0 genome.wustl.edu 37 10 88992578 88992578 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 88992578 88992578 A G SNP NUTM2A ENST00000381707 human ensembl 74_37 +1 known missense c.1570 p.M524V 0.032 NULL NULL - no_errors NUTM2A HGNC ENSG00000184923 tier1 - - 39 0 0.00 21 5 19.23 OBSCN 0 genome.wustl.edu 37 1 228400200 228400200 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 228400200 228400200 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.716 p.P239L 0.512 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 - - 52 0 0.00 33 5 13.16 OBSCN 0 genome.wustl.edu 37 1 228492183 228492183 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 228492183 228492183 A C SNP OBSCN ENST00000366707 human ensembl 74_37 +1 known missense c.4252 p.I1418L 0.981 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,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 - - 195 0 0.00 163 23 12.37 OBSL1 0 genome.wustl.edu 37 2 220427342 220427342 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220427342 220427342 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2735 p.R912H 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 19 0 0.00 10 6 37.50 OFD1 0 genome.wustl.edu 37 X 13762570 13762570 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 13762570 13762570 A G SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.449 p.Y150C 0.998 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 tier1 - - 52 0 0.00 41 7 14.58 OGT 0 genome.wustl.edu 37 X 70782825 70782825 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 70782825 70782825 T 0 DEL OGT ENST00000373719 human ensembl 74_37 +1 known frame_shift_del c.2106 p.F704fs 0.995 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 161 0 0.00 112 8 6.67 ONECUT1 0 genome.wustl.edu 37 15 53082076 53082076 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 53082076 53082076 G A SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known silent c.6 p.N2 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 tier1 - - 55 0 0.00 36 10 21.74 OPHN1 0 genome.wustl.edu 37 X 67413750 67413750 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 67413750 67413750 T C SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.1183 p.N395D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 tier1 - - 88 0 0.00 41 7 14.58 OPLAH 0 genome.wustl.edu 37 8 145111098 145111098 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145111098 145111098 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.2048 p.G683D 0.024 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 109 0 0.00 83 27 24.55 OPLAH 0 genome.wustl.edu 37 8 145111153 145111153 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145111153 145111153 A G SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1993 p.C665R 1.000 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 93 0 0.00 101 10 9.01 OR14A16 0 genome.wustl.edu 37 1 247978699 247978699 + Silent SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 247978699 247978699 G C SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known silent c.333 p.L111 0.066 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 tier1 - - 117 0 0.00 93 17 15.45 OR1L4 0 genome.wustl.edu 37 9 125486897 125486897 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 125486897 125486897 C 0 DEL OR1L4 ENST00000259466 human ensembl 74_37 +1 known frame_shift_del c.629 p.F212fs 0.545 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 656 0 0.00 548 36 6.16 OR1L6 0 genome.wustl.edu 37 9 125512755 125512755 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 125512755 125512755 C 0 DEL OR1L6 ENST00000373684 human ensembl 74_37 +1 known frame_shift_del c.737 p.F248fs 0.266 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 51 0 0.00 48 6 11.11 OR2W5 0 genome.wustl.edu 37 1 247655019 247655019 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 247655019 247655019 C T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OR2W5 HGNC ENSG00000203664 tier1 - - 200 0 0.00 151 15 9.04 OR2Y1 0 genome.wustl.edu 37 5 180166230 180166230 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 180166230 180166230 A 0 DEL OR2Y1 ENST00000307832 human ensembl 74_37 -1 known frame_shift_del c.829 p.Y277fs 0.492 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 231 0 0.00 183 13 6.63 OR4P4 0 genome.wustl.edu 37 11 55406141 55406142 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 55406141 55406142 - T INS OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_ins c.308_309 p.G106fs 0.416:0.097 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 tier1 157 0 0.00 114 23 16.79 OR51I1 0 genome.wustl.edu 37 11 5462721 5462721 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 5462721 5462721 G - DEL OR51I1 ENST00000380211 human ensembl 74_37 -1 known frame_shift_del c.24 p.F9fs 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 tier1 93 0 0.00 62 17 21.52 OR5F1 0 genome.wustl.edu 37 11 55761972 55761972 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 55761972 55761972 C T SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.130 p.G44R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 tier1 - - 82 0 0.00 59 10 14.49 OR5H14 0 genome.wustl.edu 37 3 97869016 97869016 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 97869016 97869016 G A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.787 p.A263T 0.049 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 OR5H14 HGNC ENSG00000236032 tier1 - - 47 0 0.00 24 7 22.58 OR5L2 0 genome.wustl.edu 37 11 55595518 55595518 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 55595518 55595518 C T SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.824 p.T275I 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 116 0 0.00 80 15 15.79 OR7D4 0 genome.wustl.edu 37 19 9325000 9325000 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9325000 9325000 T C SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.514 p.T172A 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 OR7D4 HGNC ENSG00000174667 tier1 - - 132 0 0.00 81 17 17.35 OR7G2 0 genome.wustl.edu 37 19 9213598 9213599 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9213598 9213599 - A INS OR7G2 ENST00000305456 human ensembl 74_37 -1 known frame_shift_ins c.385_384 p.A128fs 0.001:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 tier1 95 0 0.00 83 15 15.31 OSR2 0 genome.wustl.edu 37 8 99962935 99962935 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 99962935 99962935 A T SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.1071 p.G357 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 tier1 - - 31 0 0.00 26 4 13.33 OTOP1 0 genome.wustl.edu 37 4 4198949 4198949 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 4198949 4198949 C T SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.1612 p.A538T 0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 tier1 - - 163 0 0.00 82 13 13.68 OTOP1 0 genome.wustl.edu 37 4 4199300 4199301 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 4199300 4199301 - G INS OTOP1 ENST00000296358 human ensembl 74_37 -1 known frame_shift_ins c.1261_1260 p.Y420fs 0.959:0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 tier1 152 0 0.00 100 18 15.25 OTX2 0 genome.wustl.edu 37 14 57268654 57268654 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 57268654 57268654 A G SNP OTX2 ENST00000339475 human ensembl 74_37 -1 known silent c.693 p.G231 1.000 pfam_Otx_TF_C pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 tier1 - - 123 0 0.00 64 20 23.81 PACS1 0 genome.wustl.edu 37 11 66002812 66002812 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 66002812 66002812 C T SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known silent c.2145 p.N715 0.401 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 tier1 rs150214972 - 117 0 0.00 66 20 23.26 PACSIN1 0 genome.wustl.edu 37 6 34498086 34498086 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 34498086 34498086 A G SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known silent c.855 p.R285 0.980 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 tier1 - - 42 0 0.00 44 5 10.20 PADI2 0 genome.wustl.edu 37 1 17431488 17431488 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 17431488 17431488 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.161 p.R54H 0.003 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 tier1 - - 60 0 0.00 32 17 34.69 PADI3 0 genome.wustl.edu 37 1 17603075 17603075 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 17603075 17603075 C - DEL PADI3 ENST00000375460 human ensembl 74_37 +1 known frame_shift_del c.1369 p.V459fs 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 tier1 123 0 0.00 88 16 15.38 PAFAH2 0 genome.wustl.edu 37 1 26316044 26316044 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26316044 26316044 T C SNP PAFAH2 ENST00000374282 human ensembl 74_37 -1 known missense c.139 p.M47V 0.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote - no_errors PAFAH2 HGNC ENSG00000158006 tier1 - - 31 0 0.00 27 6 18.18 PAIP2 0 genome.wustl.edu 37 5 138700371 138700371 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 138700371 138700371 A T SNP PAIP2 ENST00000265192 human ensembl 74_37 +1 known missense c.257 p.Q86L 1.000 NULL pfam_Ataxin-2_C - no_errors PAIP2 HGNC ENSG00000120727 tier1 - - 86 0 0.00 59 15 20.27 PAK2 0 genome.wustl.edu 37 3 196530020 196530020 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 196530020 196530020 A G SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.421 p.S141G 1.000 superfamily_WASP_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 tier1 - - 101 0 0.00 73 18 19.78 PAK4 0 genome.wustl.edu 37 19 39667303 39667303 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 39667303 39667303 C T SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.1433 p.T478M 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 tier1 - - 295 0 0.00 176 42 19.27 PAPD7 0 genome.wustl.edu 37 5 6742670 6742670 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 6742670 6742670 C T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.326 p.T109M 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 tier1 - - 119 0 0.00 74 15 16.85 PAPOLB 0 genome.wustl.edu 37 7 4900105 4900105 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 4900105 4900105 T - DEL PAPOLB ENST00000404991 human ensembl 74_37 -1 known frame_shift_del c.1334 p.K445fs 0.498 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 tier1 162 0 0.00 102 32 23.88 PAQR9 0 genome.wustl.edu 37 3 142681230 142681230 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 142681230 142681230 A G SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.949 p.F317L 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 tier1 - - 156 0 0.00 145 14 8.81 PARP12 0 genome.wustl.edu 37 7 139724574 139724574 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 139724574 139724574 T C SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known missense c.1892 p.N631S 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 tier1 - - 103 0 0.00 53 16 23.19 PAX1 0 genome.wustl.edu 37 20 21689276 21689276 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 21689276 21689276 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.997 p.A333T 0.040 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 102 0 0.00 86 21 19.44 PAX3 0 genome.wustl.edu 37 2 223096997 223096997 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 223096997 223096997 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.592 p.A198T 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 tier1 - - 100 0 0.00 85 23 21.30 PAX4 0 genome.wustl.edu 37 7 127253851 127253851 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 127253851 127253851 C T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.497 p.R166Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 107 0 0.00 76 25 24.75 PCDH10 0 genome.wustl.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 134071967 134071968 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.Q226fs 0.999:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 89 0 0.00 80 5 5.88 PCDH17 0 genome.wustl.edu 37 13 58208729 58208729 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 58208729 58208729 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.2049 p.S683 0.593 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 174 0 0.00 107 26 19.55 PCDH19 0 genome.wustl.edu 37 X 99663156 99663156 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 99663156 99663156 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.440 p.R147H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 207 0 0.00 137 17 11.04 PCDH9 0 genome.wustl.edu 37 13 67800017 67800017 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 67800017 67800017 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2556 p.Q852H 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 160 0 0.00 132 26 16.46 PCDHA1 0 genome.wustl.edu 37 5 140167575 140167575 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140167575 140167575 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1700 p.A567V 0.239 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 202 0 0.00 154 29 15.85 PCDHA1 0 genome.wustl.edu 37 5 140167983 140167983 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140167983 140167983 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2108 p.A703D 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 149 0 0.00 145 10 6.45 PCDHA10 0 genome.wustl.edu 37 5 140237173 140237173 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140237173 140237173 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1540 p.G514S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 265 0 0.00 186 32 14.68 PCDHA12 0 genome.wustl.edu 37 5 140257217 140257217 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140257217 140257217 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2160 p.A720 0.026 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 66 0 0.00 62 10 13.89 PCDHA8 0 genome.wustl.edu 37 5 140222026 140222026 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140222026 140222026 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1120 p.V374M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 224 0 0.00 166 32 16.16 PCDHB1 0 genome.wustl.edu 37 5 140433152 140433152 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140433152 140433152 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.2097 p.S699 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 tier1 - - 190 0 0.00 140 28 16.67 PCDHB12 0 genome.wustl.edu 37 5 140589820 140589820 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140589820 140589820 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1341 p.N447 0.579 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 226 0 0.00 123 28 18.54 PCDHB6 0 genome.wustl.edu 37 5 140531248 140531248 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140531248 140531248 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1410 p.S470 0.002 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 340 0 0.00 223 24 9.72 PCDHGA12 0 genome.wustl.edu 37 5 140810464 140810464 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140810464 140810464 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.138 p.G46 0.068 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 235 0 0.00 207 16 7.17 PCDHGA3 0 genome.wustl.edu 37 5 140723859 140723859 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140723859 140723859 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.259 p.A87T 0.000 pfam_Cadherin_N,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 PCDHGA3 HGNC ENSG00000254245 tier1 - - 171 0 0.00 100 29 22.48 PCDHGA4 0 genome.wustl.edu 37 5 140736441 140736441 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140736441 140736441 T C SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.1674 p.N558 0.116 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 PCDHGA4 HGNC ENSG00000262576 tier1 - - 373 0 0.00 321 21 6.12 PCDHGA6 0 genome.wustl.edu 37 5 140753794 140753794 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140753794 140753794 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.144 p.I48 0.006 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 89 0 0.00 60 11 15.49 PCDHGA6 0 genome.wustl.edu 37 5 140754512 140754512 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140754512 140754512 A G SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.862 p.I288V 0.826 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 PCDHGA6 HGNC ENSG00000253731 tier1 - - 60 0 0.00 54 5 8.47 PCDHGA7 0 genome.wustl.edu 37 5 140762853 140762853 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140762853 140762853 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.387 p.N129 0.177 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 tier1 - - 123 0 0.00 78 20 20.41 PCED1B 0 genome.wustl.edu 37 12 47628998 47628998 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 47628998 47628998 G - DEL PCED1B ENST00000432328 human ensembl 74_37 +1 known frame_shift_del c.152 p.E53fs 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 tier1 47 0 0.00 57 12 17.39 PCGF5 0 genome.wustl.edu 37 10 93024278 93024278 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 93024278 93024278 G A SNP PCGF5 ENST00000336126 human ensembl 74_37 +1 known splice_site c.663+1 e7+1 1.000 - - - no_errors PCGF5 HGNC ENSG00000180628 tier1 - - 123 0 0.00 99 29 22.66 PCSK1 0 genome.wustl.edu 37 5 95734632 95734632 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 95734632 95734632 A C SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.1539 p.I513M 0.997 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 tier1 - - 70 0 0.00 52 8 13.33 PDCD1 0 genome.wustl.edu 37 2 242793327 242793327 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 242793327 242793327 G T SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known silent c.750 p.T250 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 tier1 - - 90 0 0.00 96 7 6.80 PDCD1 0 genome.wustl.edu 37 2 242794488 242794488 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 242794488 242794488 G A SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known missense c.454 p.P152S 0.128 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 tier1 - - 51 0 0.00 31 13 29.55 PDE4D 0 genome.wustl.edu 37 5 59064326 59064326 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 59064326 59064326 G A SNP PDE4D ENST00000507116 human ensembl 74_37 -1 known nonsense c.10 p.Q4* 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 211 0 0.00 165 34 17.09 PDE4DIP 0 genome.wustl.edu 37 1 144921875 144921875 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 144921875 144921875 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1154 p.E385A 0.939 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 712 0 0.00 658 60 8.36 PDE6A 0 genome.wustl.edu 37 5 149247314 149247314 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 149247314 149247314 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2248 p.R750C 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 41 0 0.00 25 8 24.24 PDE6H 0 genome.wustl.edu 37 12 15131004 15131004 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 15131004 15131004 C T SNP PDE6H ENST00000266395 human ensembl 74_37 +1 known missense c.58 p.R20C 1.000 pfam_PDE6_gamma,pirsf_PDE6_gamma pfam_PDE6_gamma,pirsf_PDE6_gamma - no_errors PDE6H HGNC ENSG00000139053 tier1 - - 42 0 0.00 39 4 9.30 PDE8A 0 genome.wustl.edu 37 15 85634360 85634360 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 85634360 85634360 A - DEL PDE8A ENST00000310298 human ensembl 74_37 +1 known frame_shift_del c.800 p.K269fs 1.000 pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 tier1 81 0 0.00 37 7 15.91 PDE8A 0 genome.wustl.edu 37 15 85652349 85652349 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 85652349 85652349 C T SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.1102 p.R368C 0.135 NULL pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 tier1 - - 63 0 0.00 56 10 15.15 PDIA2 0 genome.wustl.edu 37 16 335160 335160 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 335160 335160 T G SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known missense c.755 p.V252G 0.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 tier1 - - 80 0 0.00 47 16 25.40 PEAK1 0 genome.wustl.edu 37 15 77471152 77471152 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 77471152 77471152 C A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.3117 p.Q1039H 0.035 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 65 0 0.00 36 12 25.00 PFAS 0 genome.wustl.edu 37 17 8159913 8159913 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8159913 8159913 A C SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.893 p.Q298P 0.327 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 100 0 0.00 84 23 21.50 PHACTR1 0 genome.wustl.edu 37 6 13206135 13206135 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 13206135 13206135 G - DEL PHACTR1 ENST00000379350 human ensembl 74_37 +1 known frame_shift_del c.753 p.P254fs 0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 tier1 115 0 0.00 92 13 12.38 PHACTR2 0 genome.wustl.edu 37 6 144081763 144081763 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 144081763 144081763 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.680 p.T227M 0.891 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 tier1 - - 148 0 0.00 118 7 5.60 PHF13 0 genome.wustl.edu 37 1 6681475 6681475 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6681475 6681475 C T SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known silent c.681 p.D227 0.483 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 tier1 - - 59 0 0.00 35 8 18.60 PHF15 0 genome.wustl.edu 37 5 133895541 133895541 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 133895541 133895541 C - DEL PHF15 ENST00000395003 human ensembl 74_37 +1 known frame_shift_del c.333 p.P113fs 0.997 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 tier1 92 0 0.00 55 13 19.12 PHF16 0 genome.wustl.edu 37 X 46918268 46918268 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 46918268 46918268 G A SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known missense c.2261 p.R754Q 0.073 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 - - 57 0 0.00 39 8 17.02 PHF2 0 genome.wustl.edu 37 9 96416722 96416722 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96416722 96416722 C A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.817 p.P273T 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 - - 70 0 0.00 52 15 22.39 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 26 0 0.00 12 3 20.00 PHF21A 0 genome.wustl.edu 37 11 45987063 45987063 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 45987063 45987063 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known silent c.799 p.L267 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 tier1 - - 40 0 0.00 33 7 17.50 PHF3 0 genome.wustl.edu 37 6 64421676 64421676 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 64421676 64421676 T - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.4192 p.F1399fs 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 193 0 0.00 160 38 19.19 PHRF1 0 genome.wustl.edu 37 11 592634 592634 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 592634 592634 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.580 p.R194C 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 218 0 0.00 172 50 22.52 PHRF1 0 genome.wustl.edu 37 11 607382 607382 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 607382 607382 T C SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.1926 p.L642 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 215 0 0.00 124 15 10.79 PI16 0 genome.wustl.edu 37 6 36930811 36930811 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 36930811 36930811 T C SNP PI16 ENST00000491324 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors PI16 HGNC ENSG00000164530 tier1 - - 124 0 0.00 117 17 12.69 PI4KB 0 genome.wustl.edu 37 1 151266533 151266533 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151266533 151266533 T C SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.2266 p.M756V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 tier1 - - 96 0 0.00 86 17 16.50 PIAS3 0 genome.wustl.edu 37 1 145580583 145580583 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 145580583 145580583 C T SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known missense c.883 p.R295W 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 tier1 - - 58 0 0.00 50 8 13.79 PICALM 0 genome.wustl.edu 37 11 85725960 85725960 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 85725960 85725960 T - DEL PICALM ENST00000393346 human ensembl 74_37 -1 known frame_shift_del c.499 p.T167fs 1.000 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 tier1 36 0 0.00 32 4 11.11 PIGG 0 genome.wustl.edu 37 4 493128 493128 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 493128 493128 C T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.4 p.R2W 1.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 tier1 - - 36 0 0.00 18 5 21.74 PIGQ 0 genome.wustl.edu 37 16 633170 633170 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 633170 633170 T C SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.1819 p.C607R 0.007 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 321 0 0.00 244 26 9.63 PIGR 0 genome.wustl.edu 37 1 207112537 207112537 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207112537 207112537 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known silent c.315 p.S105 0.013 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 46 0 0.00 46 12 20.69 PIGZ 0 genome.wustl.edu 37 3 196678828 196678828 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 196678828 196678828 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known nonsense c.75 p.W25* 0.002 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 tier1 - - 54 0 0.00 35 6 14.63 PIK3C2B 0 genome.wustl.edu 37 1 204400750 204400750 + RNA DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 204400750 204400750 C - DEL PIK3C2B ENST00000462752 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PIK3C2B HGNC ENSG00000133056 tier1 71 0 0.00 70 6 7.89 PIK3R5 0 genome.wustl.edu 37 17 8791602 8791602 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8791602 8791602 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1502 p.R501H 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 tier1 - - 146 0 0.00 122 25 17.01 PIK3R6 0 genome.wustl.edu 37 17 8732149 8732149 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8732149 8732149 C - DEL PIK3R6 ENST00000311434 human ensembl 74_37 -1 known frame_shift_del c.1048 p.A350fs 0.026 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 58 0 0.00 35 6 14.63 PINK1 0 genome.wustl.edu 37 1 20977094 20977094 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 20977094 20977094 A - DEL PINK1 ENST00000321556 human ensembl 74_37 +1 known frame_shift_del c.1656 p.M554fs 0.481 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 PINK1 HGNC ENSG00000158828 tier1 96 0 0.00 52 11 17.46 PITPNM1 0 genome.wustl.edu 37 11 67264892 67264892 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67264892 67264892 G A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.1956 p.P652 0.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 - - 104 0 0.00 86 27 23.89 PIWIL2 0 genome.wustl.edu 37 8 22175700 22175700 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22175700 22175700 A G SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.2315 p.Y772C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 - - 138 0 0.00 147 18 10.91 PKP3 0 genome.wustl.edu 37 11 397114 397114 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 397114 397114 G A SNP PKP3 ENST00000331563 human ensembl 74_37 +1 known missense c.613 p.A205T 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 tier1 - - 70 0 0.00 58 8 12.12 PLA2G4E 0 genome.wustl.edu 37 15 42302329 42302329 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42302329 42302329 G - DEL PLA2G4E ENST00000413860 human ensembl 74_37 -1 known frame_shift_del c.117 p.S40fs 0.000 pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 tier1 67 0 0.00 39 5 11.36 PLA2G4E 0 genome.wustl.edu 37 15 42302335 42302338 + Frame_Shift_Del DEL CCCA CCCA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CCCA CCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42302335 42302338 CCCA - DEL PLA2G4E ENST00000413860 human ensembl 74_37 -1 known frame_shift_del c.111_108 p.G38fs 0.057:0.066:0.047:0.024 pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 tier1 79 0 0.00 41 5 10.87 PLA2R1 0 genome.wustl.edu 37 2 160885389 160885389 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 160885389 160885389 C T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known silent c.927 p.T309 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 tier1 rs150758389 - 53 0 0.00 47 5 9.62 PLAGL2 0 genome.wustl.edu 37 20 30789769 30789769 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 30789769 30789769 A T SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known silent c.213 p.P71 0.966 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 tier1 - - 92 0 0.00 58 14 19.44 PLCG2 0 genome.wustl.edu 37 16 81990400 81990400 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 81990400 81990400 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.3671 p.R1224H 0.998 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 - - 158 0 0.00 120 12 9.09 PLCXD1 0 genome.wustl.edu 37 X 205452 205452 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 205452 205452 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known silent c.180 p.H60 0.001 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom 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 - no_errors PLCXD1 HGNC ENSG00000182378 tier1 - - 196 0 0.00 120 25 17.24 PLD1 0 genome.wustl.edu 37 3 171452687 171452687 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 171452687 171452687 T A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.508 p.M170L 0.152 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 tier1 - - 199 0 0.00 123 19 13.29 PLD2 0 genome.wustl.edu 37 17 4721858 4721858 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 4721858 4721858 G T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known silent c.2079 p.T693 0.997 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 tier1 - - 166 0 0.00 139 19 12.03 PLEC 0 genome.wustl.edu 37 8 145009380 145009380 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145009380 145009380 A G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.1115 p.L372P 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 64 0 0.00 51 8 13.56 PLEKHA5 0 genome.wustl.edu 37 12 19410381 19410381 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 19410381 19410381 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.447 p.V152fs 0.510 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 93 0 0.00 86 18 17.31 PLEKHA8P1 0 genome.wustl.edu 37 12 45567322 45567322 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 45567322 45567322 G A SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.900 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 - - 60 0 0.00 52 12 18.75 PLEKHF1 0 genome.wustl.edu 37 19 30165133 30165133 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 30165133 30165133 C T SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.387 p.C129 0.832 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 tier1 - - 65 0 0.00 33 5 13.16 PLEKHM1 0 genome.wustl.edu 37 17 43531274 43531274 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 43531274 43531274 G - DEL PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known frame_shift_del c.1944 p.E649fs 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 tier1 117 0 0.00 76 31 28.97 PLOD1 0 genome.wustl.edu 37 1 12025621 12025621 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 12025621 12025621 G A SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1696 p.D566N 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 113 0 0.00 99 18 15.38 PLTP 0 genome.wustl.edu 37 20 44531233 44531233 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 44531233 44531233 A G SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.1013 p.V338A 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 20 0 0.00 17 2 10.53 PLXNB1 0 genome.wustl.edu 37 3 48456363 48456363 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48456363 48456363 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4054 p.R1352W 0.802 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 158 0 0.00 108 25 18.80 PLXNB2 0 genome.wustl.edu 37 22 50718156 50718156 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50718156 50718156 T C SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4292 p.Q1431R 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 308 0 0.00 226 20 8.13 PLXNB2 0 genome.wustl.edu 37 22 50718488 50718489 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50718488 50718489 CA - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.4188_4187 p.V1396fs 1.000:1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 101 0 0.00 67 12 15.19 PLXNC1 0 genome.wustl.edu 37 12 94543551 94543551 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 94543551 94543551 G A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.804 p.A268 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 tier1 - - 34 0 0.00 14 5 26.32 PNLIP 0 genome.wustl.edu 37 10 118310665 118310665 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 118310665 118310665 C A SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known missense c.380 p.S127Y 0.880 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 tier1 - - 35 0 0.00 32 7 17.95 PNMA5 0 genome.wustl.edu 37 X 152158827 152158827 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 152158827 152158827 G A SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.1316 p.A439V 0.782 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 tier1 - - 156 0 0.00 107 13 10.83 PNPLA6 0 genome.wustl.edu 37 19 7605870 7605870 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 7605870 7605870 G A SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.884 p.R295H 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 tier1 - - 36 0 0.00 25 4 13.33 PNPLA8 0 genome.wustl.edu 37 7 108143062 108143062 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 108143062 108143062 G A SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known nonsense c.1231 p.R411* 1.000 superfamily_ARM-type_fold pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 tier1 - - 63 0 0.00 49 6 10.91 PODXL2 0 genome.wustl.edu 37 3 127390319 127390319 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 127390319 127390319 C T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known missense c.1468 p.R490W 0.909 pfam_CD34/Podocalyxin pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 tier1 - - 159 0 0.00 106 23 17.69 POGZ 0 genome.wustl.edu 37 1 151380950 151380950 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151380950 151380950 G T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.2169 p.D723E 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 102 0 0.00 77 22 22.22 POLD2 0 genome.wustl.edu 37 7 44161617 44161617 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 44161617 44161617 A G SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known silent c.36 p.T12 0.087 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 tier1 - - 123 0 0.00 85 15 15.00 POLE 0 genome.wustl.edu 37 12 133219579 133219579 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 133219579 133219579 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.4555 p.R1519C 0.987 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 27 0 0.00 19 7 26.92 POLE4 0 genome.wustl.edu 37 2 75196554 75196554 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 75196554 75196554 C T SNP POLE4 ENST00000233699 human ensembl 74_37 +1 known rna NULL NULL 0.176 - - - no_errors POLE4 HGNC ENSG00000115350 tier1 - - 224 0 0.00 160 36 18.37 POLG 0 genome.wustl.edu 37 15 89876439 89876439 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 89876439 89876439 C - DEL POLG ENST00000268124 human ensembl 74_37 -1 known frame_shift_del c.547 p.E183fs 0.999 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 44 0 0.00 27 7 20.59 POLH 0 genome.wustl.edu 37 6 43581996 43581996 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43581996 43581996 A C SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.1844 p.E615A 0.001 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 tier1 - - 171 0 0.00 109 19 14.84 POLQ 0 genome.wustl.edu 37 3 121207488 121207489 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 121207488 121207489 - A INS POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_ins c.4290_4289 p.L1430fs 0.205:0.152 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 59 0 0.00 50 8 13.79 POLR2J 0 genome.wustl.edu 37 7 102116678 102116678 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 102116678 102116678 A G SNP POLR2J ENST00000393794 human ensembl 74_37 -1 known silent c.93 p.C31 0.723 superfamily_RBP11-like_dimer pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer - no_errors POLR2J HGNC ENSG00000005075 tier1 - - 66 0 0.00 43 7 14.00 POLR3E 0 genome.wustl.edu 37 16 22320326 22320326 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 22320326 22320326 C T SNP POLR3E ENST00000564750 human ensembl 74_37 +1 known missense c.196 p.R66W 0.328 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 tier1 - - 116 0 0.00 117 13 10.00 POMC 0 genome.wustl.edu 37 2 25387530 25387530 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 25387530 25387530 T C SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.112 p.T38A 1.000 pfam_Melanocortin_N pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 tier1 - - 132 0 0.00 110 27 19.71 POMT1 0 genome.wustl.edu 37 9 134381926 134381926 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 134381926 134381926 T - DEL POMT1 ENST00000483472 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors POMT1 HGNC ENSG00000130714 tier1 64 0 0.00 57 15 20.83 POU3F1 0 genome.wustl.edu 37 1 38511619 38511619 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 38511619 38511619 C T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known missense c.797 p.R266H 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 tier1 - - 78 0 0.00 69 15 17.86 POU4F1 0 genome.wustl.edu 37 13 79175619 79175619 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 79175619 79175619 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.1191 p.N397 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU 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 POU4F1 HGNC ENSG00000152192 tier1 - - 164 0 0.00 103 9 8.04 PPA1 0 genome.wustl.edu 37 10 71977567 71977567 + Splice_Site SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 71977567 71977567 C G SNP PPA1 ENST00000373232 human ensembl 74_37 -1 known splice_site c.297+1 e4+1 1.000 - - - no_errors PPA1 HGNC ENSG00000180817 tier1 - - 115 0 0.00 64 8 11.11 PPARD 0 genome.wustl.edu 37 6 35393770 35393770 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35393770 35393770 G A SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.1240 p.A414T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 tier1 - - 82 0 0.00 65 20 23.53 PPFIBP1 0 genome.wustl.edu 37 12 27840397 27840397 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 27840397 27840397 A G SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.2345 p.N782S 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 tier1 - - 126 0 0.00 89 14 13.59 PPP1CA 0 genome.wustl.edu 37 11 67166585 67166585 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67166585 67166585 C T SNP PPP1CA ENST00000312989 human ensembl 74_37 -1 known silent c.606 p.R202 0.999 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 tier1 - - 88 0 0.00 81 23 22.12 PPP1R10 0 genome.wustl.edu 37 6 30576685 30576685 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30576685 30576685 A T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.201 p.I67 1.000 superfamily_TFIIS_N pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 tier1 - - 101 0 0.00 77 8 9.41 PPP1R12C 0 genome.wustl.edu 37 19 55607456 55607456 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55607456 55607456 G - DEL PPP1R12C ENST00000263433 human ensembl 74_37 -1 known frame_shift_del c.1116 p.I373fs 0.157 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 tier1 176 0 0.00 110 21 16.03 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 138 0 0.00 116 20 14.71 PPP1R27 0 genome.wustl.edu 37 17 79792786 79792786 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 79792786 79792786 T C SNP PPP1R27 ENST00000330261 human ensembl 74_37 -1 known missense c.44 p.Q15R 0.266 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R27 HGNC ENSG00000182676 tier1 - - 50 0 0.00 42 5 10.64 PPP3CB 0 genome.wustl.edu 37 10 75204509 75204509 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75204509 75204509 G A SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known missense c.1343 p.A448V 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 tier1 - - 38 0 0.00 48 8 14.29 PPP4R4 0 genome.wustl.edu 37 14 94718175 94718175 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 94718175 94718175 T G SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1807 p.C603G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 - - 55 0 0.00 31 6 16.22 PRDM8 0 genome.wustl.edu 37 4 81124344 81124344 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 81124344 81124344 G - DEL PRDM8 ENST00000339711 human ensembl 74_37 +1 known frame_shift_del c.1728 p.Y577fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 tier1 8 0 0.00 8 2 20.00 PRIM2 0 genome.wustl.edu 37 6 57512699 57512699 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 57512699 57512699 T G SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 563 0 0.00 431 29 6.29 PRKAA1 0 genome.wustl.edu 37 5 40771943 40771943 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 40771943 40771943 C T SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 tier1 - - 160 0 0.00 116 15 11.45 PRKDC 0 genome.wustl.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 48746799 48746799 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.8107 p.R2703fs 0.739 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 486 0 0.00 474 73 13.35 PRKDC 0 genome.wustl.edu 37 8 48855837 48855837 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 48855837 48855837 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.898 p.W300R 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 28 0 0.00 24 3 11.11 PRKG2 0 genome.wustl.edu 37 4 82065395 82065396 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 82065395 82065396 - T INS PRKG2 ENST00000264399 human ensembl 74_37 -1 known frame_shift_ins c.1244_1243 p.R415fs 1.000:1.000 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 137 0 0.00 98 17 14.78 PRMT3 0 genome.wustl.edu 37 11 20409659 20409659 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 20409659 20409659 C - DEL PRMT3 ENST00000331079 human ensembl 74_37 +1 known frame_shift_del c.123 p.H43fs 0.025 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 tier1 74 0 0.00 73 9 10.98 PRMT5 0 genome.wustl.edu 37 14 23391719 23391719 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23391719 23391719 C A SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known missense c.1629 p.E543D 0.987 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 tier1 - - 397 0 0.00 307 56 15.43 PROZ 0 genome.wustl.edu 37 13 113812994 113812994 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 113812994 113812994 T C SNP PROZ ENST00000375547 human ensembl 74_37 +1 known missense c.20 p.L7P 0.002 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 tier1 - - 14 0 0.00 14 5 26.32 PRPSAP2 0 genome.wustl.edu 37 17 18814472 18814472 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 18814472 18814472 C T SNP PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 tier1 - - 96 0 0.00 63 18 22.22 PRR14 0 genome.wustl.edu 37 16 30666199 30666199 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30666199 30666199 T A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.908 p.V303D 0.997 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 tier1 - - 98 0 0.00 112 9 7.44 PRR22 0 genome.wustl.edu 37 19 5783101 5783101 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5783101 5783101 T G SNP PRR22 ENST00000419421 human ensembl 74_37 -1 known missense c.1157 p.K386T 0.008 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 tier1 - - 79 0 0.00 65 6 8.45 PRRC2B 0 genome.wustl.edu 37 9 134346278 134346278 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 134346278 134346278 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.2015 p.P672L 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 48 0 0.00 52 8 13.33 PRSS21 0 genome.wustl.edu 37 16 2871562 2871562 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2871562 2871562 T - DEL PRSS21 ENST00000005995 human ensembl 74_37 +1 known frame_shift_del c.901 p.F302fs 0.001 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS21 HGNC ENSG00000007038 tier1 120 0 0.00 73 10 12.05 PRSS33 0 genome.wustl.edu 37 16 2835923 2835923 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2835923 2835923 C - DEL PRSS33 ENST00000293851 human ensembl 74_37 -1 known frame_shift_del c.119 p.G40fs 0.995 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 PRSS33 HGNC ENSG00000103355 tier1 39 0 0.00 25 3 10.71 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 34 0 0.00 18 3 14.29 PRUNE 0 genome.wustl.edu 37 1 151006689 151006689 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151006689 151006689 A G SNP PRUNE ENST00000271620 human ensembl 74_37 +1 known silent c.1341 p.T447 0.001 NULL pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 tier1 - - 190 0 0.00 143 19 11.73 PRUNE2 0 genome.wustl.edu 37 9 79324748 79324749 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 79324748 79324749 - T INS PRUNE2 ENST00000428286 human ensembl 74_37 -1 known frame_shift_ins c.1365_1364 p.N455fs 0.952:0.985 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 38 0 0.00 41 11 21.15 PSD4 0 genome.wustl.edu 37 2 113958951 113958951 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 113958951 113958951 T C SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.3130 p.Y1044H 0.999 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 83 0 0.00 61 19 23.75 PSG8 0 genome.wustl.edu 37 19 43268391 43268391 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 43268391 43268391 A T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.107 p.V36D 0.011 pfam_Ig_V-set pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 tier1 - - 244 0 0.00 167 47 21.96 PSMB11 0 genome.wustl.edu 37 14 23511754 23511754 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23511754 23511754 T C SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.320 p.V107A 0.978 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 tier1 - - 107 0 0.00 109 12 9.92 PSMD2 0 genome.wustl.edu 37 3 184018161 184018161 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 184018161 184018161 C A SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.286 p.L96I 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 tier1 - - 135 0 0.00 98 21 17.65 PSMD5 0 genome.wustl.edu 37 9 123586858 123586858 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123586858 123586858 T C SNP PSMD5 ENST00000210313 human ensembl 74_37 -1 known missense c.920 p.Q307R 1.000 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 tier1 - - 131 0 0.00 97 15 13.27 PSMD7 0 genome.wustl.edu 37 16 74339455 74339455 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 74339455 74339455 C T SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known missense c.799 p.R267C 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 tier1 - - 108 0 0.00 73 12 14.12 PTCH1 0 genome.wustl.edu 37 9 98209351 98209351 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 98209351 98209351 C - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.4187 p.G1396fs 0.976 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 129 0 0.00 128 25 16.34 PTCH1 0 genome.wustl.edu 37 9 98240410 98240410 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 98240410 98240410 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1274 p.T425M 0.986 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 96 0 0.00 65 5 7.14 PTK2B 0 genome.wustl.edu 37 8 27311752 27311752 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 27311752 27311752 G A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.2677 p.E893K 1.000 pfam_Focal_adhesion_kin_target_dom,superfamily_Focal_adhesion_kin_target_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 82 0 0.00 58 12 17.14 PTMAP5 0 genome.wustl.edu 37 13 82264963 82264963 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 82264963 82264963 A - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 81 0 0.00 49 12 19.67 PTPN12 0 genome.wustl.edu 37 7 77221548 77221548 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 77221548 77221548 C T SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.467 p.T156M 0.917 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 tier1 - - 99 0 0.00 103 7 6.36 PTPN12 0 genome.wustl.edu 37 7 77256457 77256457 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 77256457 77256457 C T SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known silent c.1461 p.V487 0.000 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 tier1 - - 111 0 0.00 100 15 13.04 PTPN12 0 genome.wustl.edu 37 7 77265153 77265153 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 77265153 77265153 A - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.2129 p.K712fs 0.833 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 tier1 45 0 0.00 33 14 29.79 PTPN4 0 genome.wustl.edu 37 2 120677773 120677773 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 120677773 120677773 T - DEL PTPN4 ENST00000263708 human ensembl 74_37 +1 known frame_shift_del c.957 p.F321fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 149 0 0.00 118 20 14.49 PTPN5 0 genome.wustl.edu 37 11 18764870 18764870 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18764870 18764870 G A SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.398 p.T133M 0.037 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 tier1 rs202181774 - 133 0 0.00 95 10 9.52 PTPRO 0 genome.wustl.edu 37 12 15654731 15654731 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 15654731 15654731 C A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.839 p.S280Y 0.998 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 83 0 0.00 47 13 21.67 PTRF 0 genome.wustl.edu 37 17 40557269 40557269 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40557269 40557269 C T SNP PTRF ENST00000357037 human ensembl 74_37 -1 known silent c.609 p.S203 0.006 NULL NULL - no_errors PTRF HGNC ENSG00000177469 tier1 - - 284 0 0.00 224 47 17.34 PTTG1IP 0 genome.wustl.edu 37 21 46276178 46276178 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 46276178 46276178 G A SNP PTTG1IP ENST00000330938 human ensembl 74_37 -1 known missense c.379 p.R127W 0.314 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 tier1 - - 121 0 0.00 84 13 13.40 PUS10 0 genome.wustl.edu 37 2 61236034 61236034 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 61236034 61236034 A G SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known silent c.243 p.D81 0.082 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 tier1 - - 34 0 0.00 26 8 23.53 PXDN 0 genome.wustl.edu 37 2 1652558 1652558 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 1652558 1652558 A G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2994 p.I998 0.837 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 16 0 0.00 19 7 26.92 PXDN 0 genome.wustl.edu 37 2 1652960 1652960 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 1652960 1652960 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2592 p.N865fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 65 0 0.00 45 9 16.67 PYGO2 0 genome.wustl.edu 37 1 154932221 154932221 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154932221 154932221 G - DEL PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_del c.255 p.V87fs 0.939 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 tier1 43 0 0.00 31 6 16.22 QARS 0 genome.wustl.edu 37 3 49137627 49137627 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 49137627 49137627 A T SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1160 p.F387Y 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 tier1 - - 98 0 0.00 72 11 13.25 R3HCC1L 0 genome.wustl.edu 37 10 99968034 99968035 + Frame_Shift_Del DEL TC TC - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 99968034 99968035 TC - DEL R3HCC1L ENST00000370584 human ensembl 74_37 +1 known frame_shift_del c.163_164 p.S57fs 0.001:0.003 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 tier1 98 0 0.00 88 15 14.56 RAB11FIP1 0 genome.wustl.edu 37 8 37730524 37730525 + Frame_Shift_Del DEL GA GA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 37730524 37730525 GA - DEL RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known frame_shift_del c.1796_1795 p.S599fs 0.000:0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 91 0 0.00 92 22 19.30 RAB11FIP3 0 genome.wustl.edu 37 16 511424 511424 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 511424 511424 C T SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known silent c.735 p.Y245 0.998 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 tier1 - - 252 0 0.00 178 41 18.72 RAB3A 0 genome.wustl.edu 37 19 18311206 18311206 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18311206 18311206 C T SNP RAB3A ENST00000222256 human ensembl 74_37 -1 known missense c.278 p.R93Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3A HGNC ENSG00000105649 tier1 - - 125 0 0.00 105 12 10.26 RAB42 0 genome.wustl.edu 37 1 28920546 28920547 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28920546 28920547 0 G INS RAB42 ENST00000373826 human ensembl 74_37 +1 known frame_shift_ins c.235_236 p.V82fs 1.000:1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 63 0 0.00 51 9 15.00 RAB6A 0 genome.wustl.edu 37 11 73429864 73429864 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73429864 73429864 A T SNP RAB6A ENST00000310653 human ensembl 74_37 -1 known missense c.255 p.D85E 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 tier1 - - 139 0 0.00 134 28 17.18 RALGAPA2 0 genome.wustl.edu 37 20 20552181 20552181 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 20552181 20552181 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.3077 p.R1026H 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 30 0 0.00 16 3 15.79 RANBP2 0 genome.wustl.edu 37 2 109371681 109371681 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 109371681 109371681 T G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2432 p.L811R 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 371 0 0.00 375 23 5.78 RAP1GAP 0 genome.wustl.edu 37 1 21924941 21924941 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 21924941 21924941 T C SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.2023 p.T675A 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 tier1 - - 90 0 0.00 56 18 24.32 RAPGEF3 0 genome.wustl.edu 37 12 48132503 48132503 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 48132503 48132503 T C SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known silent c.2496 p.L832 0.966 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 tier1 - - 184 0 0.00 127 14 9.93 RASA1 0 genome.wustl.edu 37 5 86628364 86628364 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 86628364 86628364 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.733 p.R245C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 86 0 0.00 66 12 15.38 RASAL1 0 genome.wustl.edu 37 12 113543654 113543654 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 113543654 113543654 C T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known silent c.1698 p.S566 0.050 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 tier1 - - 213 0 0.00 125 31 19.87 RASAL1 0 genome.wustl.edu 37 12 113565960 113565960 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 113565960 113565960 A T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.146 p.L49Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 tier1 - - 383 0 0.00 339 50 12.85 RASAL2 0 genome.wustl.edu 37 1 178411970 178411971 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 178411970 178411971 0 T INS RASAL2 ENST00000367649 human ensembl 74_37 +1 known frame_shift_ins c.1088_1089 p.E365fs 1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 145 0 0.00 112 11 8.94 RASGEF1A 0 genome.wustl.edu 37 10 43695140 43695140 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 43695140 43695140 G T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.833 p.A278D 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 tier1 - - 56 0 0.00 49 15 23.44 RAVER1 0 genome.wustl.edu 37 19 10444093 10444093 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10444093 10444093 C T SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known missense c.142 p.A48T 0.941 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 tier1 - - 160 0 0.00 123 26 17.45 RBM15B 0 genome.wustl.edu 37 3 51431408 51431408 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 51431408 51431408 G A SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.2578 p.D860N 1.000 superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 tier1 rs143973033 - 107 0 0.00 72 29 28.71 RBM5 0 genome.wustl.edu 37 3 50142567 50142567 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 50142567 50142567 A G SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.686 p.Y229C 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 RBM5 HGNC ENSG00000003756 tier1 - - 72 0 0.00 51 4 7.27 RCC1 0 genome.wustl.edu 37 1 28861886 28861886 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28861886 28861886 G C SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.748 p.G250R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 tier1 - - 82 0 0.00 57 11 16.18 RCN2 0 genome.wustl.edu 37 15 77236173 77236173 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 77236173 77236173 T C SNP RCN2 ENST00000394885 human ensembl 74_37 +1 known silent c.522 p.F174 0.998 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN2 HGNC ENSG00000117906 tier1 - - 61 0 0.00 56 15 21.13 RDH13 0 genome.wustl.edu 37 19 55570577 55570577 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55570577 55570577 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.132 p.T44 0.713 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 tier1 - - 16 0 0.00 7 4 36.36 RELT 0 genome.wustl.edu 37 11 73101832 73101832 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73101832 73101832 C - DEL RELT ENST00000064780 human ensembl 74_37 +1 known frame_shift_del c.153 p.P53fs 0.993 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 tier1 158 0 0.00 111 21 15.91 RFC1 0 genome.wustl.edu 37 4 39293381 39293381 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 39293381 39293381 C T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.3049 p.G1017R 1.000 pfam_DNA_replication_fac_RFC1_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 tier1 - - 106 0 0.00 72 7 8.86 RFPL4B 0 genome.wustl.edu 37 6 112671149 112671149 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 112671149 112671149 T G SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.239 p.L80R 0.002 pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 tier1 - - 53 0 0.00 32 7 17.95 RFTN1 0 genome.wustl.edu 37 3 16475359 16475359 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 16475359 16475359 T A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known nonsense c.331 p.R111* 1.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 tier1 - - 417 0 0.00 306 66 17.74 RFX5 0 genome.wustl.edu 37 1 151318741 151318741 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151318741 151318741 G - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.56 p.P19fs 0.658 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 tier1 189 0 0.00 146 26 15.12 RGL3 0 genome.wustl.edu 37 19 11505033 11505033 + RNA SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11505033 11505033 A G SNP RGL3 ENST00000568628 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RGL3 HGNC ENSG00000205517 tier1 - - 103 0 0.00 84 6 6.67 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 24 0 0.00 15 5 25.00 RGS6 0 genome.wustl.edu 37 14 72936763 72936763 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 72936763 72936763 A G SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.508 p.I170V 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 103 0 0.00 67 15 18.29 RGS9BP 0 genome.wustl.edu 37 19 33167776 33167776 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 33167776 33167776 G - DEL RGS9BP ENST00000334176 human ensembl 74_37 +1 known frame_shift_del c.607 p.G205fs 0.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 tier1 38 0 0.00 13 7 35.00 RHBDF1 0 genome.wustl.edu 37 16 111433 111433 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 111433 111433 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.1345 p.E449K 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 tier1 - - 48 0 0.00 39 8 17.02 RHBDL3 0 genome.wustl.edu 37 17 30594937 30594937 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 30594937 30594937 T G SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known missense c.128 p.F43C 1.000 pfscan_EF_hand_dom pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 tier1 - - 498 0 0.00 409 52 11.28 RHNO1 0 genome.wustl.edu 37 12 2997144 2997144 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 2997144 2997144 C T SNP RHNO1 ENST00000489288 human ensembl 74_37 +1 known missense c.236 p.A79V 0.001 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 tier1 - - 43 0 0.00 41 8 16.33 RHOBTB1 0 genome.wustl.edu 37 10 62631222 62631222 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 62631222 62631222 T - DEL RHOBTB1 ENST00000461910 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 61 0 0.00 37 6 13.95 RHOBTB2 0 genome.wustl.edu 37 8 22864881 22864881 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22864881 22864881 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1123 p.G375R 0.977 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 tier1 - - 225 0 0.00 186 21 10.10 RHOF 0 genome.wustl.edu 37 12 122218895 122218895 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 122218895 122218895 C T SNP RHOF ENST00000267205 human ensembl 74_37 -1 known silent c.354 p.T118 0.020 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 62 0 0.00 38 4 9.52 RIMKLB 0 genome.wustl.edu 37 12 8902524 8902524 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 8902524 8902524 C A SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.242 p.P81H 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 tier1 - - 38 0 0.00 41 5 10.87 RIMS2 0 genome.wustl.edu 37 8 105160971 105160971 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 105160971 105160971 T G SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.3283 p.L1095V 0.895 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 71 0 0.00 69 8 10.39 RLF 0 genome.wustl.edu 37 1 40702285 40702285 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40702285 40702285 A C SNP RLF ENST00000372771 human ensembl 74_37 +1 known silent c.1911 p.P637 0.009 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 158 0 0.00 123 27 18.00 RLIM 0 genome.wustl.edu 37 X 73812324 73812324 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 73812324 73812324 A C SNP RLIM ENST00000332687 human ensembl 74_37 -1 known missense c.826 p.S276A 0.246 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 tier1 - - 159 0 0.00 97 7 6.73 RMI1 0 genome.wustl.edu 37 9 86617025 86617025 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 86617025 86617025 A - DEL RMI1 ENST00000325875 human ensembl 74_37 +1 known frame_shift_del c.1124 p.N377fs 0.238 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 tier1 66 0 0.00 75 13 14.77 RNF139 0 genome.wustl.edu 37 8 125499569 125499569 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 125499569 125499569 T C SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known missense c.1679 p.I560T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 tier1 - - 64 0 0.00 65 11 14.47 RNF181 0 genome.wustl.edu 37 2 85823660 85823660 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 85823660 85823660 G A SNP RNF181 ENST00000306368 human ensembl 74_37 +1 known missense c.105 p.M35I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF181 HGNC ENSG00000168894 42 0 0.00 48 4 7.69 RNF207 0 genome.wustl.edu 37 1 6272464 6272464 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6272464 6272464 C T SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel silent c.1470 p.V490 0.001 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 tier1 - - 40 0 0.00 37 15 28.85 RNF213 0 genome.wustl.edu 37 17 78321601 78321601 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 78321601 78321601 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.9466 p.V3156I 0.800 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 70 0 0.00 60 11 15.49 RNF216 0 genome.wustl.edu 37 7 5680955 5680955 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 5680955 5680955 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.2212 p.G738S 0.982 smart_Znf_C6HC smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 tier1 - - 102 0 0.00 85 12 12.37 RNF31 0 genome.wustl.edu 37 14 24624887 24624887 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 24624887 24624887 C T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2479 p.R827C 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 tier1 - - 136 0 0.00 98 25 20.33 RNF6 0 genome.wustl.edu 37 13 26788260 26788260 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 26788260 26788260 G A SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1759 p.R587C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 tier1 - - 164 0 0.00 128 39 23.35 ROS1 0 genome.wustl.edu 37 6 117715401 117715402 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 117715401 117715402 - A INS ROS1 ENST00000368508 human ensembl 74_37 -1 known frame_shift_ins c.1088_1087 p.Y363fs 1.000:1.000 smart_LDLR_classB_rpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 56 0 0.00 43 14 24.56 RP1L1 0 genome.wustl.edu 37 8 10470324 10470324 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 10470324 10470324 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.1284 p.L428 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 121 0 0.00 102 19 15.70 RPA2 0 genome.wustl.edu 37 1 28233741 28233741 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28233741 28233741 G A SNP RPA2 ENST00000313433 human ensembl 74_37 -1 known missense c.434 p.A145V 1.000 superfamily_NA-bd_OB-fold pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors RPA2 HGNC ENSG00000117748 tier1 - - 265 0 0.00 194 46 19.17 RPL21P122 0 genome.wustl.edu 37 17 11914382 11914382 + RNA DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 11914382 11914382 G - DEL RPL21P122 ENST00000578024 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors RPL21P122 HGNC ENSG00000241185 tier1 36 0 0.00 23 3 11.54 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 tier1 49 0 0.00 28 8 22.22 RPP25L 0 genome.wustl.edu 37 9 34611083 34611083 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34611083 34611083 C T SNP RPP25L ENST00000297613 human ensembl 74_37 -1 known missense c.211 p.A71T 1.000 pfam_DNA/RNA-bd_Alba-like pfam_DNA/RNA-bd_Alba-like - no_errors RPP25L HGNC ENSG00000164967 tier1 - - 92 0 0.00 67 19 22.09 RRNAD1 0 genome.wustl.edu 37 1 156702120 156702120 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 156702120 156702120 C T SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.284 p.A95V 0.997 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 tier1 - - 61 0 0.00 61 8 11.59 RRP8 0 genome.wustl.edu 37 11 6624664 6624664 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6624664 6624664 T C SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known silent c.69 p.R23 0.001 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 tier1 - - 33 0 0.00 24 4 14.29 RUNDC3B 0 genome.wustl.edu 37 7 87329803 87329803 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87329803 87329803 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 70 0 0.00 54 14 20.59 RUNDC3B 0 genome.wustl.edu 37 7 87399959 87399959 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87399959 87399959 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.743 p.S248N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 60 0 0.00 27 9 25.00 RUSC1 0 genome.wustl.edu 37 1 155300241 155300241 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155300241 155300241 T A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known nonsense c.2588 p.L863* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 tier1 - - 69 0 0.00 68 8 10.53 RUVBL2 0 genome.wustl.edu 37 19 49507566 49507566 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49507566 49507566 A T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known silent c.156 p.A52 0.998 pfam_TIP49_C,superfamily_P-loop_NTPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 tier1 - - 154 0 0.00 122 14 10.29 RUVBL2 0 genome.wustl.edu 37 19 49513070 49513070 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49513070 49513070 A T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.500 p.E167V 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 tier1 - - 185 0 0.00 124 25 16.78 RXRG 0 genome.wustl.edu 37 1 165379995 165379995 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 165379995 165379995 C T SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.857 p.R286H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 tier1 - - 62 0 0.00 38 8 17.39 RYR1 0 genome.wustl.edu 37 19 38931487 38931487 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38931487 38931487 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.148 p.P50S 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 40 0 0.00 26 8 23.53 RYR1 0 genome.wustl.edu 37 19 38987143 38987143 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38987143 38987143 A G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.6758 p.H2253R 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 149 0 0.00 113 6 5.04 RYR2 0 genome.wustl.edu 37 1 237550661 237550661 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 237550661 237550661 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.651 p.S217 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 142 0 0.00 105 19 15.32 S1PR5 0 genome.wustl.edu 37 19 10625152 10625152 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10625152 10625152 A G SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.536 p.L179P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 tier1 - - 14 0 0.00 18 6 25.00 SACS 0 genome.wustl.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 23912864 23912864 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.5151 p.K1717fs 0.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 68 0 0.00 40 14 25.93 SACS 0 genome.wustl.edu 37 13 23928788 23928788 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 23928788 23928788 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.1963 p.L655F 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 137 0 0.00 105 19 15.32 SAFB2 0 genome.wustl.edu 37 19 5590306 5590306 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5590306 5590306 C - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2508 p.L837fs 0.389 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 tier1 24 0 0.00 6 5 45.45 SAGE1 0 genome.wustl.edu 37 X 134978401 134978401 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 134978401 134978401 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.017 - - - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 86 0 0.00 72 11 13.25 SALL3 0 genome.wustl.edu 37 18 76755442 76755442 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 76755442 76755442 A G SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3451 p.T1151A 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 31 0 0.00 16 7 30.43 SARS 0 genome.wustl.edu 37 1 109779840 109779841 + RNA INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109779840 109779841 - C INS SARS ENST00000468588 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SARS HGNC ENSG00000031698 tier1 103 0 0.00 75 7 8.54 SATL1 0 genome.wustl.edu 37 X 84363314 84363314 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 84363314 84363314 G T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.661 p.Q221K 0.063 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 179 0 0.00 88 25 22.12 SBF1 0 genome.wustl.edu 37 22 50900005 50900005 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50900005 50900005 A C SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.2786 p.V929G 1.000 pfam_GRAM,smart_GRAM pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 tier1 - - 61 0 0.00 34 12 26.09 SBNO1 0 genome.wustl.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 123794283 123794283 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3416 p.N1139fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 tier1 180 0 0.00 108 15 12.20 SCAF4 0 genome.wustl.edu 37 21 33065711 33065711 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 33065711 33065711 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1409 p.R470H 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 91 0 0.00 56 12 17.65 SCAF4 0 genome.wustl.edu 37 21 33074655 33074655 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 33074655 33074655 T 0 DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.359 p.N120fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 86 0 0.00 46 5 9.80 SCAPER 0 genome.wustl.edu 37 15 77025671 77025673 + In_Frame_Del DEL CAT CAT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 77025671 77025673 CAT - DEL SCAPER ENST00000324767 human ensembl 74_37 -1 known in_frame_del c.1921_1919 p.D640in_frame_del 1.000:1.000:1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 43 0 0.00 28 6 17.65 SCARA5 0 genome.wustl.edu 37 8 27737174 27737174 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 27737174 27737174 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known silent c.1263 p.G421 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 tier1 - - 149 0 0.00 130 29 18.24 SCARB1 0 genome.wustl.edu 37 12 125294752 125294752 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 125294752 125294752 G T SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known silent c.810 p.S270 0.000 pfam_CD36,prints_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 62 0 0.00 53 3 5.36 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 tier1 36 0 0.00 25 8 24.24 SCEL 0 genome.wustl.edu 37 13 78202088 78202088 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 78202088 78202088 G T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.1635 p.Q545H 0.257 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 82 0 0.00 41 5 10.87 SCFD2 0 genome.wustl.edu 37 4 54231957 54231957 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 54231957 54231957 C 0 DEL SCFD2 ENST00000401642 human ensembl 74_37 -1 known frame_shift_del c.152 p.G51fs 0.116 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 102 0 0.00 104 8 7.14 SCLT1 0 genome.wustl.edu 37 4 129920943 129920943 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 129920943 129920943 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.433 p.T145fs 0.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 tier1 59 0 0.00 46 14 23.33 SCMH1 0 genome.wustl.edu 37 1 41540951 41540952 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 41540951 41540952 - G INS SCMH1 ENST00000326197 human ensembl 74_37 -1 known frame_shift_ins c.888_887 p.S297fs 1.000:1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 tier1 243 0 0.00 169 38 18.36 SCN5A 0 genome.wustl.edu 37 3 38592986 38592986 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 38592986 38592986 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4877 p.R1626H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 rs199473283 - 172 0 0.00 135 33 19.64 SCRIB 0 genome.wustl.edu 37 8 144895989 144895989 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144895989 144895989 T C SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.355 p.R119G 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 tier1 - - 27 0 0.00 26 6 18.75 SCUBE2 0 genome.wustl.edu 37 11 9111258 9111258 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 9111258 9111258 A C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.252 p.C84W 0.970 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 - - 168 0 0.00 121 14 10.37 SDAD1 0 genome.wustl.edu 37 4 76878542 76878542 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 76878542 76878542 C T SNP SDAD1 ENST00000356260 human ensembl 74_37 -1 known missense c.1790 p.R597Q 1.000 pfam_SDA1_dom pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 tier1 - - 108 0 0.00 82 9 9.89 SDAD1 0 genome.wustl.edu 37 4 76894534 76894534 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 76894534 76894534 G A SNP SDAD1 ENST00000356260 human ensembl 74_37 -1 known missense c.647 p.A216V 1.000 superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 tier1 - - 116 0 0.00 82 16 16.33 SDHA 0 genome.wustl.edu 37 5 256535 256535 + Nonstop_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 256535 256535 A G SNP SDHA ENST00000264932 human ensembl 74_37 +1 known nonstop c.1995 p.*665W 0.971 NULL pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 - - 73 0 0.00 38 6 13.64 SDK1 0 genome.wustl.edu 37 7 4153771 4153771 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 4153771 4153771 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3688 p.S1230G 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 101 0 0.00 77 16 17.20 SDK2 0 genome.wustl.edu 37 17 71418542 71418542 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 71418542 71418542 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.1929 p.V643 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 221 0 0.00 188 30 13.76 SDR39U1 0 genome.wustl.edu 37 14 24910108 24910108 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 24910108 24910108 G A SNP SDR39U1 ENST00000399395 human ensembl 74_37 -1 known missense c.353 p.A118V 0.959 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 tier1 - - 61 0 0.00 48 16 25.00 SDSL 0 genome.wustl.edu 37 12 113873175 113873175 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 113873175 113873175 T C SNP SDSL ENST00000345635 human ensembl 74_37 +1 known missense c.485 p.L162P 0.989 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 tier1 - - 16 0 0.00 12 6 33.33 SEC16A 0 genome.wustl.edu 37 9 139345720 139345720 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139345720 139345720 C A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.6300 p.K2100N 0.659 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 35 0 0.00 26 4 13.33 SEC22A 0 genome.wustl.edu 37 3 122944101 122944101 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 122944101 122944101 A G SNP SEC22A ENST00000309934 human ensembl 74_37 +1 known silent c.498 p.S166 1.000 NULL superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22A HGNC ENSG00000121542 tier1 rs200293060 - 211 0 0.00 162 18 10.00 SEC23A 0 genome.wustl.edu 37 14 39565321 39565321 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 39565321 39565321 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 tier1 - - 83 0 0.00 53 12 18.46 SEC61A2 0 genome.wustl.edu 37 10 12203088 12203088 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 12203088 12203088 T C SNP SEC61A2 ENST00000298428 human ensembl 74_37 +1 known missense c.1135 p.W379R 0.999 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 tier1 - - 85 0 0.00 74 13 14.94 SELENBP1 0 genome.wustl.edu 37 1 151337121 151337121 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151337121 151337121 G A SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known silent c.1443 p.N481 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 tier1 - - 262 0 0.00 145 35 19.44 SEPHS1 0 genome.wustl.edu 37 10 13375848 13375848 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 13375848 13375848 T C SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.529 p.T177A 1.000 superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 tier1 - - 82 0 0.00 45 13 22.41 SEPT6 0 genome.wustl.edu 37 X 118763372 118763372 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 118763372 118763372 T A SNP SEPT6 ENST00000394617 human ensembl 74_37 -1 known nonsense c.1279 p.K427* 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 tier1 - - 230 0 0.00 155 18 10.40 SERHL2 0 genome.wustl.edu 37 22 42962339 42962339 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 42962339 42962339 G A SNP SERHL2 ENST00000327678 human ensembl 74_37 +1 known missense c.643 p.A215T 0.000 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors SERHL2 HGNC ENSG00000183569 tier1 rs199947066 - 158 0 0.00 105 29 21.48 SERPINA11 0 genome.wustl.edu 37 14 94914663 94914663 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 94914663 94914663 C T SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.449 p.R150Q 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 tier1 - - 324 0 0.00 253 23 8.33 SESN2 0 genome.wustl.edu 37 1 28598946 28598946 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28598946 28598946 G A SNP SESN2 ENST00000253063 human ensembl 74_37 +1 known missense c.506 p.R169Q 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 tier1 - - 102 0 0.00 81 20 19.80 SESN3 0 genome.wustl.edu 37 11 94924679 94924679 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 94924679 94924679 C A SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known missense c.231 p.Q77H 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 tier1 - - 166 0 0.00 98 24 19.67 SETD7 0 genome.wustl.edu 37 4 140468077 140468077 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 140468077 140468077 C T SNP SETD7 ENST00000274031 human ensembl 74_37 -1 known missense c.167 p.G56D 1.000 pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom - no_errors SETD7 HGNC ENSG00000145391 tier1 - - 186 0 0.00 126 7 5.26 SFMBT2 0 genome.wustl.edu 37 10 7326073 7326073 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 7326073 7326073 C A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.565 p.G189C 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 118 0 0.00 85 22 20.56 SFSWAP 0 genome.wustl.edu 37 12 132238940 132238940 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 132238940 132238940 C - DEL SFSWAP ENST00000261674 human ensembl 74_37 +1 known frame_shift_del c.1350 p.P452fs 0.976 superfamily_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 tier1 66 0 0.00 51 7 12.07 SGK1 0 genome.wustl.edu 37 6 134582973 134582973 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 134582973 134582973 A - DEL SGK1 ENST00000524929 human ensembl 74_37 -1 putative frame_shift_del c.383 p.L128fs 0.005 NULL NULL - no_errors SGK1 HGNC ENSG00000118515 tier1 14 0 0.00 14 5 26.32 SH3PXD2A 0 genome.wustl.edu 37 10 105484098 105484098 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 105484098 105484098 G - DEL SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_del c.328 p.H110fs 0.989 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 tier1 65 0 0.00 42 8 16.00 SH3RF1 0 genome.wustl.edu 37 4 170077694 170077694 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170077694 170077694 T C SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.530 p.N177S 0.077 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 tier1 - - 210 0 0.00 145 40 21.62 SH3RF2 0 genome.wustl.edu 37 5 145428715 145428716 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 145428715 145428716 - G INS SH3RF2 ENST00000359120 human ensembl 74_37 +1 known frame_shift_ins c.1229_1230 p.K412fs 1.000:0.998 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 tier1 110 0 0.00 68 16 19.05 SH3RF2 0 genome.wustl.edu 37 5 145442268 145442268 + RNA SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 145442268 145442268 T C SNP SH3RF2 ENST00000503848 human ensembl 74_37 +1 known rna NULL NULL 0.898 - - - no_errors SH3RF2 HGNC ENSG00000156463 tier1 - - 76 0 0.00 64 5 7.25 SH3YL1 0 genome.wustl.edu 37 2 234180 234181 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 234180 234181 CA - DEL SH3YL1 ENST00000356150 human ensembl 74_37 -1 known frame_shift_del c.384_383 p.V128fs 1.000:1.000 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 tier1 185 0 0.00 149 31 17.22 SHCBP1 0 genome.wustl.edu 37 16 46638005 46638005 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 46638005 46638005 C T SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known missense c.974 p.R325H 0.208 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 tier1 - - 146 0 0.00 89 31 25.83 SHROOM3 0 genome.wustl.edu 37 4 77691990 77691990 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 77691990 77691990 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5561 p.R1854H 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 186 0 0.00 137 42 23.46 SIAH3 0 genome.wustl.edu 37 13 46358089 46358089 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 46358089 46358089 T A SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known missense c.239 p.H80L 0.865 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 54 0 0.00 61 6 8.82 SIK2 0 genome.wustl.edu 37 11 111591459 111591459 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 111591459 111591459 A C SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.1753 p.R585 0.808 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 114 0 0.00 84 24 22.22 SIPA1L1 0 genome.wustl.edu 37 14 72191386 72191386 + Splice_Site SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 72191386 72191386 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known splice_site c.4512-1 e16-1 1.000 - - - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 59 0 0.00 49 14 22.22 SIPA1L1 0 genome.wustl.edu 37 14 72205763 72205763 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 72205763 72205763 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.5300 p.A1767V 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 91 0 0.00 80 8 9.09 SIPA1L3 0 genome.wustl.edu 37 19 38684260 38684260 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38684260 38684260 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.4680 p.P1560 0.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 25 0 0.00 25 6 19.35 SIRPA 0 genome.wustl.edu 37 20 1915366 1915366 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 1915366 1915366 A G SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.1232 p.H411R 1.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 tier1 - - 149 0 0.00 95 30 24.00 SKIV2L2 0 genome.wustl.edu 37 5 54654434 54654434 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 54654434 54654434 C T SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.1567 p.R523C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 51 0 0.00 38 6 13.64 SLA 0 genome.wustl.edu 37 8 134062186 134062186 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 134062186 134062186 C G SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.329 p.S110T 0.994 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 tier1 - - 88 0 0.00 81 21 20.59 SLC11A1 0 genome.wustl.edu 37 2 219251888 219251888 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219251888 219251888 C A SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.506 p.P169Q 0.998 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 tier1 - - 164 0 0.00 94 33 25.98 SLC11A2 0 genome.wustl.edu 37 12 51402362 51402362 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 51402362 51402362 A G SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known missense c.167 p.I56T 0.543 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 tier1 - - 99 0 0.00 77 14 15.38 SLC12A4 0 genome.wustl.edu 37 16 67984390 67984390 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67984390 67984390 G A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.1467 p.G489 0.007 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 - - 78 0 0.00 40 13 24.53 SLC12A7 0 genome.wustl.edu 37 5 1081834 1081834 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 1081834 1081834 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1155 p.H385 0.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 106 0 0.00 101 9 8.18 SLC13A2 0 genome.wustl.edu 37 17 26820745 26820745 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 26820745 26820745 C A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known silent c.1182 p.T394 0.615 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 tier1 - - 129 0 0.00 88 34 27.87 SLC16A5 0 genome.wustl.edu 37 17 73094211 73094211 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 73094211 73094211 G A SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known missense c.278 p.G93D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 tier1 - - 318 0 0.00 177 132 42.58 SLC18A1 0 genome.wustl.edu 37 8 20005579 20005579 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 20005579 20005579 A G SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known silent c.1149 p.V383 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 tier1 - - 48 0 0.00 49 11 18.33 SLC19A1 0 genome.wustl.edu 37 21 46951980 46951980 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 46951980 46951980 C T SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 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 - - 80 0 0.00 88 6 6.32 SLC1A6 0 genome.wustl.edu 37 19 15079239 15079239 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 15079239 15079239 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.424 p.A142T 0.997 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 tier1 - - 26 0 0.00 31 5 13.89 SLC22A16 0 genome.wustl.edu 37 6 110763589 110763589 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 110763589 110763589 T C SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known silent c.1041 p.S347 0.006 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 tier1 - - 152 0 0.00 125 15 10.71 SLC22A6 0 genome.wustl.edu 37 11 62749334 62749334 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62749334 62749334 A - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.777 p.F259fs 0.986 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 tier1 33 0 0.00 16 11 40.74 SLC22A8 0 genome.wustl.edu 37 11 62766540 62766540 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62766540 62766540 C T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.614 p.R205Q 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 tier1 rs150176294 - 111 0 0.00 69 9 11.54 SLC24A5 0 genome.wustl.edu 37 15 48434400 48434400 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 48434400 48434400 T - DEL SLC24A5 ENST00000341459 human ensembl 74_37 +1 known frame_shift_del c.1355 p.L454fs 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 119 0 0.00 74 15 16.85 SLC25A1 0 genome.wustl.edu 37 22 19164421 19164421 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 19164421 19164421 T C SNP SLC25A1 ENST00000215882 human ensembl 74_37 -1 known missense c.569 p.K190R 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 SLC25A1 HGNC ENSG00000100075 tier1 - - 116 0 0.00 74 20 21.28 SLC25A24 0 genome.wustl.edu 37 1 108703903 108703903 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 108703903 108703903 A G SNP SLC25A24 ENST00000264128 human ensembl 74_37 -1 known missense c.323 p.M108T 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SLC25A24 HGNC ENSG00000085491 tier1 - - 113 0 0.00 67 10 12.99 SLC25A25 0 genome.wustl.edu 37 9 130863446 130863446 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130863446 130863446 A G SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known silent c.333 p.Q111 0.932 smart_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 tier1 - - 124 0 0.00 118 10 7.81 SLC25A30 0 genome.wustl.edu 37 13 45983198 45983198 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 45983198 45983198 T G SNP SLC25A30 ENST00000519676 human ensembl 74_37 -1 known missense c.76 p.I26L 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 tier1 - - 56 0 0.00 25 9 26.47 SLC26A1 0 genome.wustl.edu 37 4 984935 984935 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 984935 984935 A G SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.557 p.L186P 0.479 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 tier1 - - 46 0 0.00 57 9 13.64 SLC26A2 0 genome.wustl.edu 37 5 149357646 149357647 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 149357646 149357647 - T INS SLC26A2 ENST00000286298 human ensembl 74_37 +1 known frame_shift_ins c.431_432 p.A147fs 0.996:0.583 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 tier1 135 0 0.00 106 11 9.40 SLC26A8 0 genome.wustl.edu 37 6 35912065 35912065 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35912065 35912065 T - DEL SLC26A8 ENST00000355574 human ensembl 74_37 -1 known frame_shift_del c.2525 p.N842fs 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 99 0 0.00 78 15 16.13 SLC34A1 0 genome.wustl.edu 37 5 176824038 176824038 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176824038 176824038 T A SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known missense c.1379 p.L460Q 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 tier1 - - 54 0 0.00 49 5 9.26 SLC35A1 0 genome.wustl.edu 37 6 88210914 88210914 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 88210914 88210914 C T SNP SLC35A1 ENST00000369552 human ensembl 74_37 +1 known silent c.393 p.C131 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 tier1 - - 92 0 0.00 62 11 15.07 SLC35A4 0 genome.wustl.edu 37 5 139947625 139947625 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 139947625 139947625 G A SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known missense c.871 p.A291T 0.995 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 tier1 - - 82 0 0.00 64 7 9.86 SLC35A5 0 genome.wustl.edu 37 3 112299704 112299704 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 112299704 112299704 A G SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known missense c.740 p.N247S 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 tier1 - - 88 0 0.00 50 13 20.63 SLC37A1 0 genome.wustl.edu 37 21 43962555 43962555 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43962555 43962555 C T SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known silent c.528 p.V176 0.676 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 - - 63 0 0.00 31 12 27.91 SLC39A5 0 genome.wustl.edu 37 12 56630405 56630405 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56630405 56630405 A G SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.1082 p.H361R 0.035 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 tier1 - - 166 0 0.00 126 18 12.50 SLC39A6 0 genome.wustl.edu 37 18 33706484 33706484 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 33706484 33706484 C A SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.487 p.G163W 0.029 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 tier1 - - 174 0 0.00 134 29 17.68 SLC6A17 0 genome.wustl.edu 37 1 110740210 110740210 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 110740210 110740210 A T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.1804 p.I602F 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_orphan - no_errors SLC6A17 HGNC ENSG00000197106 tier1 - - 66 0 0.00 42 8 16.00 SLC6A9 0 genome.wustl.edu 37 1 44463618 44463618 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 44463618 44463618 A C SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1835 p.I612S 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_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 tier1 - - 80 0 0.00 54 5 8.47 SLC7A4 0 genome.wustl.edu 37 22 21384406 21384406 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 21384406 21384406 G A SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1217 p.A406V 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 tier1 - - 39 0 0.00 40 6 13.04 SLC9B1 0 genome.wustl.edu 37 4 103870469 103870469 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 103870469 103870469 T C SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known silent c.327 p.G109 0.173 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 tier1 rs139729203 - 108 0 0.00 77 25 24.51 SLC9B2 0 genome.wustl.edu 37 4 103952952 103952952 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 103952952 103952952 T - DEL SLC9B2 ENST00000362026 human ensembl 74_37 -1 known frame_shift_del c.1160 p.K387fs 0.744 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 tier1 50 0 0.00 32 8 20.00 SLC9C1 0 genome.wustl.edu 37 3 111936299 111936299 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 111936299 111936299 C A SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.1780 p.G594C 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 - - 78 0 0.00 66 10 13.16 SLFN5 0 genome.wustl.edu 37 17 33586620 33586620 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33586620 33586620 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.911 p.A304V 0.298 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 tier1 rs149363506 - 212 0 0.00 162 26 13.83 SLIT3 0 genome.wustl.edu 37 5 168201356 168201356 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 168201356 168201356 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.1179 p.C393 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 398 0 0.00 245 53 17.79 SMARCA2 0 genome.wustl.edu 37 9 2182188 2182188 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 2182188 2182188 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.4407 p.K1469 0.937 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 195 0 0.00 148 19 11.38 SMARCC1 0 genome.wustl.edu 37 3 47742848 47742848 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 47742848 47742848 T A SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1085 p.D362V 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 tier1 - - 90 0 0.00 50 11 18.03 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 76 0 0.00 89 10 10.10 SMC2 0 genome.wustl.edu 37 9 106889742 106889742 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 106889742 106889742 C A SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.2771 p.A924D 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 126 0 0.00 71 16 18.39 SMG6 0 genome.wustl.edu 37 17 2202995 2202995 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 2202995 2202995 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.1052 p.R351H 0.989 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 rs140472144 - 147 0 0.00 102 9 8.11 SMTN 0 genome.wustl.edu 37 22 31485922 31485922 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 31485922 31485922 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.709 p.S239fs 0.420 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 20 0 0.00 11 2 15.38 SMU1 0 genome.wustl.edu 37 9 33073764 33073764 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33073764 33073764 A T SNP SMU1 ENST00000397149 human ensembl 74_37 -1 known missense c.67 p.L23I 1.000 smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 tier1 - - 131 0 0.00 98 21 17.65 SMYD2 0 genome.wustl.edu 37 1 214492252 214492252 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 214492252 214492252 G T SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known missense c.460 p.A154S 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 tier1 - - 119 0 0.00 65 16 19.75 SNAP29 0 genome.wustl.edu 37 22 21242091 21242091 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 21242091 21242091 A - DEL SNAP29 ENST00000215730 human ensembl 74_37 +1 known frame_shift_del c.744 p.S250fs 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP29 HGNC ENSG00000099940 tier1 108 0 0.00 66 15 18.52 SNAP91 0 genome.wustl.edu 37 6 84269853 84269853 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 84269853 84269853 G - DEL SNAP91 ENST00000369694 human ensembl 74_37 -1 known frame_shift_del c.2601 p.F868fs 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 tier1 112 0 0.00 77 13 14.44 SNHG1 0 genome.wustl.edu 37 11 62620298 62620298 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62620298 62620298 T G SNP SNHG1 ENST00000537869 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors SNHG1 HGNC ENSG00000255717 tier1 - - 56 0 0.00 41 9 18.00 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 tier1 195 0 0.00 131 22 14.38 SNORD116-8 0 genome.wustl.edu 37 15 25315599 25315599 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 25315599 25315599 A - DEL SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 tier1 145 0 0.00 120 14 10.45 SNORD9 0 genome.wustl.edu 37 14 21860365 21860365 + RNA SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 21860365 21860365 A C SNP SNORD9 ENST00000362566 human ensembl 74_37 -1 known rna NULL NULL 0.288 - - - no_errors SNORD9 HGNC ENSG00000199436 tier1 - - 117 0 0.00 75 7 8.54 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766006 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 31766006 31766006 A - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 24 0 0.00 16 3 15.79 SNTG2 0 genome.wustl.edu 37 2 1271276 1271276 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 1271276 1271276 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1217 p.G406D 0.976 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 60 0 0.00 41 6 12.77 SNX1 0 genome.wustl.edu 37 15 64419432 64419432 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 64419432 64419432 C T SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.712 p.R238W 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 tier1 - - 44 0 0.00 24 6 20.00 SNX29 0 genome.wustl.edu 37 16 12162925 12162925 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 12162925 12162925 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.100 p.G34R 0.209 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 147 0 0.00 114 14 10.94 SNX33 0 genome.wustl.edu 37 15 75942629 75942629 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 75942629 75942629 A G SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.1186 p.S396G 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 tier1 - - 64 0 0.00 31 15 32.61 SOGA2 0 genome.wustl.edu 37 18 8806949 8806949 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 8806949 8806949 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2495 p.A832V 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 57 0 0.00 27 4 12.90 SORCS1 0 genome.wustl.edu 37 10 108378020 108378020 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 108378020 108378020 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2807 p.T936I 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 84 0 0.00 38 9 19.15 SORCS2 0 genome.wustl.edu 37 4 7714482 7714482 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 7714482 7714482 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.1891 p.R631C 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 tier1 - - 92 0 0.00 57 17 22.97 SORL1 0 genome.wustl.edu 37 11 121448043 121448043 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121448043 121448043 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3514 p.R1172C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 91 0 0.00 79 24 23.30 SORL1 0 genome.wustl.edu 37 11 121454237 121454237 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121454237 121454237 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.3651 p.A1217 0.004 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 67 0 0.00 32 11 25.58 SORL1 0 genome.wustl.edu 37 11 121454270 121454270 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121454270 121454270 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.3684 p.S1228 0.380 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 rs149335156 - 73 0 0.00 33 5 13.16 SORL1 0 genome.wustl.edu 37 11 121461769 121461769 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121461769 121461769 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.4273 p.R1425C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 265 0 0.00 225 22 8.91 SOS1 0 genome.wustl.edu 37 2 39262443 39262443 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 39262443 39262443 G A SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known silent c.984 p.G328 0.732 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 54 0 0.00 40 4 9.09 SOWAHB 0 genome.wustl.edu 37 4 77817773 77817773 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 77817773 77817773 A G SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known silent c.1230 p.S410 0.971 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 tier1 - - 193 0 0.00 107 19 14.96 SOX15 0 genome.wustl.edu 37 17 7492805 7492805 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7492805 7492805 G A SNP SOX15 ENST00000250055 human ensembl 74_37 -1 known missense c.190 p.R64C 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX15 HGNC ENSG00000129194 tier1 - - 44 0 0.00 27 13 32.50 SOX17 0 genome.wustl.edu 37 8 55370866 55370866 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 55370866 55370866 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.168 p.A56 0.756 superfamily_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 - - 42 0 0.00 30 6 16.67 SOX3 0 genome.wustl.edu 37 X 139586828 139586828 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 139586828 139586828 C - DEL SOX3 ENST00000370536 human ensembl 74_37 -1 known frame_shift_del c.398 p.G133fs 0.344 superfamily_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 tier1 72 0 0.00 46 6 11.54 SPAG9 0 genome.wustl.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 49077041 49077041 T - DEL SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_del c.1645 p.R549fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 tier1 53 0 0.00 36 17 32.08 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 26 0 0.00 23 6 20.69 SPEN 0 genome.wustl.edu 37 1 16202981 16202981 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 16202981 16202981 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.689 p.G230V 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 122 0 0.00 97 11 10.19 SPG11 0 genome.wustl.edu 37 15 44858099 44858099 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 44858099 44858099 G A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.6952 p.R2318C 0.021 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 34 0 0.00 31 5 13.89 SPG11 0 genome.wustl.edu 37 15 44876563 44876563 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 44876563 44876563 C T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.5315 p.R1772H 0.456 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 rs150823040 - 61 0 0.00 50 5 9.09 SPINK4 0 genome.wustl.edu 37 9 33248464 33248464 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33248464 33248464 T G SNP SPINK4 ENST00000379723 human ensembl 74_37 +1 known missense c.325 p.C109G 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 tier1 - - 61 0 0.00 66 8 10.81 SPSB1 0 genome.wustl.edu 37 1 9416276 9416276 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 9416276 9416276 G - DEL SPSB1 ENST00000328089 human ensembl 74_37 +1 known frame_shift_del c.326 p.G110fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 tier1 196 0 0.00 145 32 18.08 SPTBN1 0 genome.wustl.edu 37 2 54858499 54858499 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 54858499 54858499 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.3315 p.E1105 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 159 0 0.00 121 27 18.24 SPZ1 0 genome.wustl.edu 37 5 79616966 79616966 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 79616966 79616966 G A SNP SPZ1 ENST00000296739 human ensembl 74_37 +1 known missense c.932 p.S311N 0.000 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 tier1 - - 140 0 0.00 114 19 14.29 SRCAP 0 genome.wustl.edu 37 16 30749490 30749490 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30749490 30749490 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.8129 p.S2710L 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 85 0 0.00 64 19 22.89 SREK1 0 genome.wustl.edu 37 5 65473396 65473397 + Frame_Shift_Ins INS - - AG TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 65473396 65473397 - AG INS SREK1 ENST00000334121 human ensembl 74_37 +1 known frame_shift_ins c.1635_1636 p.E549fs 0.997:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 tier1 128 0 0.00 76 21 21.65 SRGAP1 0 genome.wustl.edu 37 12 64456870 64456870 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 64456870 64456870 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.975 p.A325 0.046 superfamily_Fuc/Ara_isomerase_C pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 116 0 0.00 69 19 21.59 SRRM2 0 genome.wustl.edu 37 16 2814058 2814058 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2814058 2814058 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.3529 p.T1177A 0.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 191 0 0.00 143 14 8.92 SRRM2 0 genome.wustl.edu 37 16 2814676 2814676 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2814676 2814676 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.4147 p.S1383G 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 457 0 0.00 352 36 9.28 SRRT 0 genome.wustl.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100479331 100479332 - G INS SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_ins c.303_304 p.G104fs 0.996:1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 54 0 0.00 65 8 10.96 SRSF2 0 genome.wustl.edu 37 17 74733170 74733170 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 74733170 74733170 T C SNP SRSF2 ENST00000359995 human ensembl 74_37 -1 known missense c.73 p.T25A 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 25 0 0.00 27 2 6.90 SSFA2 0 genome.wustl.edu 37 2 182780823 182780823 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 182780823 182780823 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.2456 p.R819Q 0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 111 0 0.00 58 10 14.71 SSH1 0 genome.wustl.edu 37 12 109186436 109186436 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109186436 109186436 G - DEL SSH1 ENST00000326495 human ensembl 74_37 -1 known frame_shift_del c.1519 p.L507fs 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 tier1 122 0 0.00 98 11 10.09 SSH1 0 genome.wustl.edu 37 12 109194657 109194657 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109194657 109194657 A - DEL SSH1 ENST00000326495 human ensembl 74_37 -1 known frame_shift_del c.1047 p.P350fs 0.994 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 tier1 127 0 0.00 114 18 13.64 SSH3 0 genome.wustl.edu 37 11 67079326 67079326 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67079326 67079326 G A SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.1948 p.V650M 0.999 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 tier1 - - 120 0 0.00 103 16 13.45 SSPO 0 genome.wustl.edu 37 7 149489158 149489158 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 149489158 149489158 T G SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 164 0 0.00 129 9 6.52 ST6GALNAC5 0 genome.wustl.edu 37 1 77333294 77333294 + RNA SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 77333294 77333294 A G SNP ST6GALNAC5 ENST00000480428 human ensembl 74_37 +1 putative rna NULL NULL 0.992 - - - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 - - 159 0 0.00 102 18 15.00 ST6GALNAC5 0 genome.wustl.edu 37 1 77334221 77334221 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 77334221 77334221 T C SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.55 p.C19R 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 - - 75 0 0.00 44 11 20.00 ST6GALNAC5 0 genome.wustl.edu 37 1 77334272 77334272 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 77334272 77334272 C - DEL ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known frame_shift_del c.106 p.P37fs 0.998 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 48 0 0.00 28 6 17.65 ST7-AS2 0 genome.wustl.edu 37 7 116770698 116770698 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 116770698 116770698 T - DEL ST7-AS2 ENST00000434993 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ST7-AS2 HGNC ENSG00000226367 tier1 53 0 0.00 22 3 12.00 ST8SIA1 0 genome.wustl.edu 37 12 22408309 22408309 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 22408309 22408309 C T SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known silent c.396 p.Q132 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 tier1 - - 159 0 0.00 115 14 10.85 ST8SIA1 0 genome.wustl.edu 37 12 22487142 22487142 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 22487142 22487142 G A SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known nonsense c.25 p.R9* 0.679 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 tier1 - - 116 0 0.00 69 21 23.33 STAB1 0 genome.wustl.edu 37 3 52557042 52557042 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52557042 52557042 T G SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6912 p.D2304E 0.880 superfamily_C-type_lectin_fold,superfamily_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 181 0 0.00 115 20 14.81 STAB2 0 genome.wustl.edu 37 12 104155148 104155148 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 104155148 104155148 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7319 p.H2440R 0.986 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 145 0 0.00 89 27 23.28 STAC3 0 genome.wustl.edu 37 12 57642910 57642910 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57642910 57642910 T C SNP STAC3 ENST00000332782 human ensembl 74_37 -1 known missense c.248 p.K83R 1.000 prints_p67phox pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 tier1 - - 95 0 0.00 73 13 15.12 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 tier1 70 0 0.00 48 17 26.15 STAT4 0 genome.wustl.edu 37 2 191919252 191919252 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 191919252 191919252 C A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.1215 p.K405N 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 173 0 0.00 99 25 20.16 STAT5B 0 genome.wustl.edu 37 17 40362446 40362447 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40362446 40362447 - T INS STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_ins c.1750_1749 p.H583fs 1.000:0.969 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 168 0 0.00 131 32 19.63 STAT6 0 genome.wustl.edu 37 12 57493106 57493106 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57493106 57493106 T C SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known missense c.1862 p.K621R 1.000 smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 tier1 - - 189 0 0.00 123 16 11.51 STAT6 0 genome.wustl.edu 37 12 57493155 57493155 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57493155 57493155 G A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known nonsense c.1813 p.R605* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 tier1 - - 165 0 0.00 84 23 21.50 STAU2 0 genome.wustl.edu 37 8 74529623 74529623 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 74529623 74529623 A - DEL STAU2 ENST00000524300 human ensembl 74_37 -1 known frame_shift_del c.474 p.F158fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 tier1 78 0 0.00 90 14 13.46 STK40 0 genome.wustl.edu 37 1 36809543 36809543 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36809543 36809543 G A SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.937 p.R313W 1.000 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_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 STK40 HGNC ENSG00000196182 tier1 - - 102 0 0.00 93 5 5.10 STT3A 0 genome.wustl.edu 37 11 125476316 125476316 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 125476316 125476316 C A SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.736 p.L246M 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 tier1 - - 190 0 0.00 122 28 18.67 STX2 0 genome.wustl.edu 37 12 131283099 131283100 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 131283099 131283100 - T INS STX2 ENST00000392373 human ensembl 74_37 -1 known frame_shift_ins c.757_756 p.A252fs 1.000:0.955 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 tier1 123 0 0.00 75 17 18.48 STXBP4 0 genome.wustl.edu 37 17 53155491 53155491 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 53155491 53155491 G A SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known missense c.1241 p.R414Q 1.000 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 95 0 0.00 68 6 8.11 SUCLG2 0 genome.wustl.edu 37 3 67570962 67570962 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 67570962 67570962 G - DEL SUCLG2 ENST00000307227 human ensembl 74_37 -1 known frame_shift_del c.514 p.Q172fs 0.906 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 tier1 172 0 0.00 135 22 14.01 SUCO 0 genome.wustl.edu 37 1 172558174 172558174 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 172558174 172558174 C T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.2389 p.R797W 0.834 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 tier1 - - 58 0 0.00 42 16 27.59 SUN2 0 genome.wustl.edu 37 22 39132304 39132304 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 39132304 39132304 G A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.2122 p.R708C 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 tier1 - - 109 0 0.00 84 21 19.63 SUOX 0 genome.wustl.edu 37 12 56397531 56397531 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56397531 56397531 G T SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.358 p.G120W 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 tier1 - - 147 0 0.00 98 27 21.60 SUPV3L1 0 genome.wustl.edu 37 10 70968515 70968515 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70968515 70968515 C T SNP SUPV3L1 ENST00000359655 human ensembl 74_37 +1 known silent c.2085 p.S695 0.018 NULL pfam_SUV3_C,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 tier1 - - 107 0 0.00 82 7 7.87 SUV420H1 0 genome.wustl.edu 37 11 67925352 67925352 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67925352 67925352 A G SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.2461 p.Y821H 0.989 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 149 0 0.00 105 35 25.00 SUV420H1 0 genome.wustl.edu 37 11 67926254 67926254 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67926254 67926254 T A SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1559 p.N520I 0.005 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 133 0 0.00 92 18 16.36 SV2B 0 genome.wustl.edu 37 15 91811773 91811773 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 91811773 91811773 C T SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.1311 p.G437 0.798 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 tier1 rs145148239 - 135 0 0.00 106 10 8.62 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 49 0 0.00 25 12 32.43 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 45 0 0.00 36 5 12.20 SYMPK 0 genome.wustl.edu 37 19 46334803 46334805 + In_Frame_Del DEL CTC CTC - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 46334803 46334805 CTC - DEL SYMPK ENST00000245934 human ensembl 74_37 -1 known in_frame_del c.1437_1435 p.E479in_frame_del 0.999:0.999:1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 22 0 0.00 16 4 20.00 SYNE2 0 genome.wustl.edu 37 14 64416693 64416693 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 64416693 64416693 C A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.559 p.L187I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 - - 204 0 0.00 145 14 8.81 SYNGR2 0 genome.wustl.edu 37 17 76166922 76166922 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76166922 76166922 T C SNP SYNGR2 ENST00000225777 human ensembl 74_37 +1 known missense c.124 p.C42R 1.000 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR2 HGNC ENSG00000108639 tier1 - - 366 0 0.00 307 62 16.80 SYNM 0 genome.wustl.edu 37 15 99673025 99673025 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 99673025 99673025 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.4457 p.R1486H 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 215 0 0.00 165 33 16.67 SYNPO2L 0 genome.wustl.edu 37 10 75407872 75407872 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75407872 75407872 T C SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.1538 p.Q513R 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 - - 28 0 0.00 13 4 23.53 SYP 0 genome.wustl.edu 37 X 49050777 49050777 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 49050777 49050777 C - DEL SYP ENST00000263233 human ensembl 74_37 -1 known frame_shift_del c.269 p.G90fs 0.007 pfam_Marvel pfam_Marvel,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 tier1 70 0 0.00 66 13 16.46 SYT15 0 genome.wustl.edu 37 10 46965734 46965734 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 46965734 46965734 A G SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known missense c.962 p.L321P 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 tier1 - - 134 0 0.00 98 7 6.67 SYT15 0 genome.wustl.edu 37 10 46969318 46969318 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 46969318 46969318 G A SNP SYT15 ENST00000374321 human ensembl 74_37 -1 known missense c.143 p.A48V 0.017 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 tier1 - - 88 0 0.00 56 7 11.11 SYTL2 0 genome.wustl.edu 37 11 85468698 85468698 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 85468698 85468698 G A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.71 p.A24V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 521 0 0.00 404 48 10.62 SYVN1 0 genome.wustl.edu 37 11 64895929 64895929 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64895929 64895929 A G SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known silent c.1779 p.P593 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 tier1 - - 62 0 0.00 39 12 23.53 TACC3 0 genome.wustl.edu 37 4 1730092 1730092 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 1730092 1730092 A T SNP TACC3 ENST00000313288 human ensembl 74_37 +1 known missense c.963 p.E321D 0.013 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 tier1 - - 69 0 0.00 51 17 25.00 TAF11 0 genome.wustl.edu 37 6 34850723 34850723 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 34850723 34850723 C T SNP TAF11 ENST00000361288 human ensembl 74_37 -1 known silent c.306 p.E102 1.000 NULL pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC ENSG00000064995 tier1 - - 53 0 0.00 41 5 10.87 TAF4B 0 genome.wustl.edu 37 18 23937693 23937693 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 23937693 23937693 G A SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.2356 p.A786T 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 tier1 - - 95 0 0.00 60 13 17.81 TAF6 0 genome.wustl.edu 37 7 99706095 99706095 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 99706095 99706095 T A SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.1353 p.E451D 1.000 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 tier1 - - 195 0 0.00 192 19 9.00 TAF6L 0 genome.wustl.edu 37 11 62554757 62554757 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62554757 62554757 T C SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known silent c.1858 p.L620 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 - - 71 0 0.00 57 7 10.94 TAOK3 0 genome.wustl.edu 37 12 118599792 118599792 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 118599792 118599792 G A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.1940 p.A647V 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 TAOK3 HGNC ENSG00000135090 tier1 - - 89 0 0.00 105 6 5.41 TAP2 0 genome.wustl.edu 37 6 32805986 32805986 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 32805986 32805986 A G SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.25 p.W9R 1.000 tigrfam_Ag_transporter2 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,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 tier1 - - 74 0 0.00 63 6 8.70 TAPBP 0 genome.wustl.edu 37 6 33281098 33281098 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33281098 33281098 G T SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.365 p.A122D 0.464 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 tier1 - - 94 0 0.00 69 15 17.86 TARS2 0 genome.wustl.edu 37 1 150476863 150476863 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150476863 150476863 T A SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1670 p.I557N 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 57 0 0.00 34 4 10.53 TAS2R3 0 genome.wustl.edu 37 7 141464155 141464156 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 141464155 141464156 - T INS TAS2R3 ENST00000247879 human ensembl 74_37 +1 known frame_shift_ins c.197_198 p.L68fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 tier1 272 0 0.00 183 44 19.38 TAS2R42 0 genome.wustl.edu 37 12 11338798 11338799 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 11338798 11338799 - A INS TAS2R42 ENST00000334266 human ensembl 74_37 -1 known frame_shift_ins c.746_745 p.S249fs 0.000:0.015 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 tier1 118 0 0.00 88 13 12.87 TATDN1 0 genome.wustl.edu 37 8 125500847 125500847 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 125500847 125500847 A - DEL TATDN1 ENST00000276692 human ensembl 74_37 -1 known frame_shift_del c.882 p.P295fs 1.000 pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 tier1 42 0 0.00 30 5 14.29 TATDN2 0 genome.wustl.edu 37 3 10290943 10290943 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10290943 10290943 C A SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.59 p.P20H 0.865 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 tier1 - - 143 0 0.00 99 31 23.85 TATDN2 0 genome.wustl.edu 37 3 10291294 10291294 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10291294 10291294 T G SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.410 p.L137R 0.999 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 tier1 - - 67 0 0.00 49 8 14.04 TBC1D15 0 genome.wustl.edu 37 12 72278612 72278612 + Nonsense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 72278612 72278612 G T SNP TBC1D15 ENST00000472611 human ensembl 74_37 +1 known nonsense c.226 p.G76* 1.000 NULL pfam_DUF3548 - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 55 0 0.00 43 9 17.31 TBC1D32 0 genome.wustl.edu 37 6 121638708 121638709 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 121638708 121638709 - T INS TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_ins c.428_427 p.I143fs 0.001:0.273 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 118 0 0.00 85 10 10.53 TBC1D4 0 genome.wustl.edu 37 13 75911143 75911143 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 75911143 75911143 T A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.1645 p.T549S 0.005 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 tier1 - - 42 0 0.00 28 10 25.64 TBC1D7 0 genome.wustl.edu 37 6 13306757 13306757 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 13306757 13306757 A C SNP TBC1D7 ENST00000356436 human ensembl 74_37 -1 known missense c.668 p.V223G 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D7 HGNC ENSG00000145979 tier1 - - 104 0 0.00 80 20 20.00 TBCK 0 genome.wustl.edu 37 4 107156505 107156505 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 107156505 107156505 T - DEL TBCK ENST00000273980 human ensembl 74_37 -1 known frame_shift_del c.1370 p.N457fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 tier1 31 0 0.00 17 5 22.73 TBL2 0 genome.wustl.edu 37 7 72985266 72985266 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 72985266 72985266 C T SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known silent c.915 p.L305 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 tier1 - - 176 0 0.00 103 22 17.60 TBP 0 genome.wustl.edu 37 6 170871016 170871016 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 170871016 170871016 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.192 p.Q64 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 112 0 0.00 62 18 22.50 TBXAS1 0 genome.wustl.edu 37 7 139657496 139657496 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 139657496 139657496 T A SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.893 p.L298Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 tier1 - - 115 0 0.00 91 8 8.08 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain 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 161 0 0.00 96 19 16.52 TCF12 0 genome.wustl.edu 37 15 57543518 57543518 + RNA SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 57543518 57543518 A T SNP TCF12 ENST00000558210 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCF12 HGNC ENSG00000140262 tier1 - - 35 0 0.00 22 5 18.52 TCF20 0 genome.wustl.edu 37 22 42606139 42606139 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 42606139 42606139 A - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5173 p.Y1725fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 172 0 0.00 124 22 15.07 TCF21 0 genome.wustl.edu 37 6 134210721 134210721 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 134210721 134210721 G A SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known silent c.186 p.A62 0.953 pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 tier1 - - 56 0 0.00 47 17 26.56 TCF3 0 genome.wustl.edu 37 19 1619184 1619184 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1619184 1619184 A G SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.1376 p.M459T 0.761 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 tier1 - - 94 0 0.00 75 20 21.05 TCHH 0 genome.wustl.edu 37 1 152080674 152080674 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152080674 152080674 T - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_del c.5019 p.E1673fs 0.563 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 222 0 0.00 139 22 13.66 TDRD1 0 genome.wustl.edu 37 10 115977310 115977310 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115977310 115977310 A C SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.2219 p.K740T 0.000 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 56 0 0.00 50 9 15.25 TDRD1 0 genome.wustl.edu 37 10 115986880 115986880 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115986880 115986880 A - DEL TDRD1 ENST00000251864 human ensembl 74_37 +1 known frame_shift_del c.3225 p.N1077fs 0.327 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 43 0 0.00 44 10 18.52 TECTA 0 genome.wustl.edu 37 11 121023729 121023729 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121023729 121023729 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4245 p.N1415 0.968 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 51 0 0.00 38 5 11.63 TENM2 0 genome.wustl.edu 37 5 167642184 167642184 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 167642184 167642184 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.3985 p.V1329M 0.996 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 204 0 0.00 123 28 18.54 TENM4 0 genome.wustl.edu 37 11 78433881 78433881 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 78433881 78433881 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3632 p.R1211H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 59 0 0.00 47 12 20.34 TEP1 0 genome.wustl.edu 37 14 20847140 20847140 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 20847140 20847140 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.5252 p.R1751Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 - - 149 0 0.00 84 21 20.00 TERF1 0 genome.wustl.edu 37 8 73951397 73951397 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 73951397 73951397 A G SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.1086 p.I362M 0.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 tier1 - - 47 0 0.00 32 13 28.89 TERF2IP 0 genome.wustl.edu 37 16 75690320 75690320 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 75690320 75690320 A - DEL TERF2IP ENST00000300086 human ensembl 74_37 +1 known frame_shift_del c.1011 p.N339fs 0.723 NULL pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 tier1 346 0 0.00 253 46 15.38 TERT 0 genome.wustl.edu 37 5 1255506 1255506 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 1255506 1255506 T C SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.3053 p.Q1018R 0.917 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 87 0 0.00 52 7 11.86 TESK1 0 genome.wustl.edu 37 9 35609431 35609432 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35609431 35609432 - C INS TESK1 ENST00000336395 human ensembl 74_37 +1 known frame_shift_ins c.1573_1574 p.Q527fs 0.992:0.995 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 TESK1 HGNC ENSG00000107140 tier1 91 0 0.00 57 7 10.94 TET3 0 genome.wustl.edu 37 2 74275221 74275222 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 74275221 74275222 - C INS TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_ins c.1772_1773 p.S594fs 0.873:0.921 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 69 0 0.00 52 7 11.86 TEX15 0 genome.wustl.edu 37 8 30701411 30701412 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 30701411 30701412 - T INS TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_ins c.5123_5122 p.R1708fs 0.403:0.405 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 89 0 0.00 89 12 11.88 TEX15 0 genome.wustl.edu 37 8 30705912 30705912 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 30705912 30705912 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.622 p.T208fs 0.014 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 61 0 0.00 66 9 12.00 TFAP4 0 genome.wustl.edu 37 16 4311902 4311902 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 4311902 4311902 C T SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.403 p.E135K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 21 0 0.00 21 4 16.00 TG 0 genome.wustl.edu 37 8 133961067 133961067 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 133961067 133961067 T G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5280 p.C1760W 0.771 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 184 0 0.00 161 36 18.27 TGM4 0 genome.wustl.edu 37 3 44945444 44945444 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 44945444 44945444 A G SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known missense c.1040 p.Q347R 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 tier1 - - 236 0 0.00 139 35 20.11 THBS1 0 genome.wustl.edu 37 15 39874929 39874929 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 39874929 39874929 G - DEL THBS1 ENST00000260356 human ensembl 74_37 +1 known frame_shift_del c.603 p.G203fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 tier1 73 0 0.00 40 8 16.67 THBS2 0 genome.wustl.edu 37 6 169648548 169648548 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 169648548 169648548 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.573 p.Y191 0.999 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 - - 234 0 0.00 169 13 7.14 THUMPD2 0 genome.wustl.edu 37 2 39983101 39983101 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 39983101 39983101 C A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known splice_site c.892-1 e7-1 1.000 - - - no_errors THUMPD2 HGNC ENSG00000138050 tier1 - - 66 0 0.00 56 10 15.15 TIAM1 0 genome.wustl.edu 37 21 32589954 32589954 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 32589954 32589954 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2057 p.A686V 0.974 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 140 0 0.00 110 30 21.43 TIE1 0 genome.wustl.edu 37 1 43775150 43775150 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43775150 43775150 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1280 p.R427H 1.000 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 65 0 0.00 43 14 24.56 TIGD7 0 genome.wustl.edu 37 16 3349406 3349408 + In_Frame_Del DEL AAG AAG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3349406 3349408 AAG - DEL TIGD7 ENST00000268674 human ensembl 74_37 -1 known in_frame_del c.1209_1207 p.L403in_frame_del 1.000:1.000:1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 206 0 0.00 130 24 15.58 TIMMDC1 0 genome.wustl.edu 37 3 119222827 119222827 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 119222827 119222827 A G SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.476 p.Y159C 1.000 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 tier1 - - 81 0 0.00 59 12 16.90 TLDC2 0 genome.wustl.edu 37 20 35506355 35506355 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 35506355 35506355 G A SNP TLDC2 ENST00000217320 human ensembl 74_37 +1 known silent c.87 p.E29 0.947 NULL pfam_TLDc,smart_TLDc - no_errors TLDC2 HGNC ENSG00000101342 tier1 - - 114 0 0.00 104 9 7.96 TLL1 0 genome.wustl.edu 37 4 166795224 166795224 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 166795224 166795224 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.168 p.A56 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 289 0 0.00 184 50 21.37 TLL2 0 genome.wustl.edu 37 10 98145927 98145927 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 98145927 98145927 C A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known missense c.1898 p.S633I 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 tier1 - - 136 0 0.00 106 11 9.40 TLN1 0 genome.wustl.edu 37 9 35704044 35704044 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35704044 35704044 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6175 p.A2059T 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_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 TLN1 HGNC ENSG00000137076 tier1 - - 67 0 0.00 60 12 16.67 TLN1 0 genome.wustl.edu 37 9 35713198 35713198 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35713198 35713198 T A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.3347 p.Y1116F 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_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 TLN1 HGNC ENSG00000137076 tier1 - - 38 0 0.00 40 6 13.04 TM4SF1 0 genome.wustl.edu 37 3 149095199 149095199 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 149095199 149095199 A G SNP TM4SF1 ENST00000305366 human ensembl 74_37 -1 known missense c.136 p.F46L 0.926 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 tier1 - - 40 0 0.00 41 6 12.77 TM6SF1 0 genome.wustl.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 83805312 83805312 T - DEL TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_del c.1010 p.L339fs 0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 tier1 126 0 0.00 93 20 17.70 TMED1 0 genome.wustl.edu 37 19 10946798 10946798 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10946798 10946798 C - DEL TMED1 ENST00000214869 human ensembl 74_37 -1 known frame_shift_del c.70 p.A24fs 0.997 NULL pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 tier1 10 0 0.00 6 4 40.00 TMEM136 0 genome.wustl.edu 37 11 120200688 120200688 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 120200688 120200688 T G SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known missense c.268 p.S90A 0.498 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 tier1 - - 125 0 0.00 79 8 9.20 TMEM223 0 genome.wustl.edu 37 11 62558340 62558340 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62558340 62558340 G A SNP TMEM223 ENST00000307366 human ensembl 74_37 -1 known missense c.364 p.R122C 0.991 NULL NULL - no_errors TMEM223 HGNC ENSG00000168569 20 0 0.00 20 4 16.67 TMEM256-PLSCR3 0 genome.wustl.edu 37 17 7296656 7296656 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7296656 7296656 C T SNP TMEM256-PLSCR3 ENST00000324822 human ensembl 74_37 -1 known missense c.314 p.R105Q 1.000 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors TMEM256-PLSCR3 HGNC ENSG00000187838 tier1 - - 139 0 0.00 116 16 12.12 TMEM50B 0 genome.wustl.edu 37 21 34839404 34839404 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 34839404 34839404 A T SNP TMEM50B ENST00000420455 human ensembl 74_37 -1 known missense c.125 p.I42N 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 tier1 - - 92 0 0.00 54 8 12.90 TMOD3 0 genome.wustl.edu 37 15 52194104 52194104 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 52194104 52194104 A T SNP TMOD3 ENST00000308580 human ensembl 74_37 +1 known missense c.895 p.T299S 1.000 NULL pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 tier1 - - 49 0 0.00 33 6 15.38 TMPRSS11D 0 genome.wustl.edu 37 4 68725389 68725389 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 68725389 68725389 G A SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known missense c.16 p.R6C 0.048 pirsf_Pept_S1A_HAT/DESC1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 tier1 - - 73 0 0.00 38 12 24.00 TMPRSS11F 0 genome.wustl.edu 37 4 68919690 68919690 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 68919690 68919690 T - DEL TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known frame_shift_del c.1254 p.K418fs 0.994 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 tier1 96 0 0.00 79 10 11.24 TMPRSS15 0 genome.wustl.edu 37 21 19715873 19715873 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 19715873 19715873 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1378 p.D460N 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 48 0 0.00 39 6 13.33 TMPRSS2 0 genome.wustl.edu 37 21 42866320 42866320 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 42866320 42866320 C T SNP TMPRSS2 ENST00000398585 human ensembl 74_37 -1 known silent c.312 p.T104 0.143 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS2 HGNC ENSG00000184012 tier1 - - 108 0 0.00 64 12 15.79 TNFRSF8 0 genome.wustl.edu 37 1 12198423 12198424 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 12198423 12198424 - G INS TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known frame_shift_ins c.1473_1474 p.S494fs 0.000:0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 61 0 0.00 51 10 16.39 TNFRSF9 0 genome.wustl.edu 37 1 7998254 7998254 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 7998254 7998254 T - DEL TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.019 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 tier1 169 0 0.00 122 11 8.27 TNPO1 0 genome.wustl.edu 37 5 72182911 72182911 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 72182911 72182911 G A SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1165 p.A389T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 - - 274 0 0.00 201 33 14.04 TNR 0 genome.wustl.edu 37 1 175331808 175331809 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 175331808 175331809 - A INS TNR ENST00000263525 human ensembl 74_37 -1 known frame_shift_ins c.2845_2844 p.V948fs 0.528:0.060 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 102 0 0.00 77 18 18.95 TNRC18 0 genome.wustl.edu 37 7 5352330 5352330 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 5352330 5352330 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8192 p.P2731L 0.722 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 58 0 0.00 45 6 11.76 TNRC18 0 genome.wustl.edu 37 7 5410759 5410759 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 5410759 5410759 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.3466 p.R1156W 0.868 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 55 0 0.00 46 10 17.86 TNRC6A 0 genome.wustl.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 24807240 24807240 A - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known frame_shift_del c.3541 p.R1183fs 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 211 0 0.00 120 28 18.92 TNS1 0 genome.wustl.edu 37 2 218683387 218683387 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 218683387 218683387 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3356 p.S1119N 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 133 0 0.00 85 11 11.46 TNS4 0 genome.wustl.edu 37 17 38652551 38652551 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 38652551 38652551 A C SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.127 p.Y43D 1.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 tier1 - - 102 0 0.00 95 6 5.94 TNXB 0 genome.wustl.edu 37 6 32037370 32037370 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 32037370 32037370 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.5547 p.H1849 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 65 0 0.00 57 8 12.31 TNXB 0 genome.wustl.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 32063513 32063514 AC - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.2117_2116 p.V706fs 0.972:0.989 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 68 0 0.00 60 7 10.45 TOR4A 0 genome.wustl.edu 37 9 140174339 140174339 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140174339 140174339 T C SNP TOR4A ENST00000357503 human ensembl 74_37 +1 known missense c.1198 p.F400L 1.000 NULL pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 tier1 - - 24 0 0.00 6 4 40.00 TP53BP2 0 genome.wustl.edu 37 1 223985981 223985982 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 223985981 223985982 - T INS TP53BP2 ENST00000343537 human ensembl 74_37 -1 known frame_shift_ins c.1884_1883 p.N628fs 1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 tier1 207 0 0.00 169 37 17.96 TPD52L1 0 genome.wustl.edu 37 6 125584120 125584120 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 125584120 125584120 G A SNP TPD52L1 ENST00000530868 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPD52L1 HGNC ENSG00000111907 tier1 - - 29 0 0.00 14 4 22.22 TPRG1L 0 genome.wustl.edu 37 1 3545083 3545083 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 3545083 3545083 C T SNP TPRG1L ENST00000378344 human ensembl 74_37 +1 known silent c.735 p.I245 0.992 NULL pfam_Inositol_phosphatase - no_errors TPRG1L HGNC ENSG00000158109 tier1 - - 61 0 0.00 44 11 20.00 TRAK1 0 genome.wustl.edu 37 3 42242450 42242450 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 42242450 42242450 C - DEL TRAK1 ENST00000396175 human ensembl 74_37 +1 known frame_shift_del c.1157 p.R388fs 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 212 0 0.00 151 26 14.69 TRANK1 0 genome.wustl.edu 37 3 36873242 36873242 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 36873242 36873242 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7700 p.L2567P 0.984 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 95 0 0.00 88 14 13.73 TRAP1 0 genome.wustl.edu 37 16 3715978 3715978 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3715978 3715978 C A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1377 p.E459D 0.993 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 54 0 0.00 47 3 6.00 TRAPPC3 0 genome.wustl.edu 37 1 36614988 36614988 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36614988 36614988 C T SNP TRAPPC3 ENST00000469757 human ensembl 74_37 -1 known rna NULL NULL 0.031 - - - no_errors TRAPPC3 HGNC ENSG00000054116 tier1 - - 46 0 0.00 28 9 24.32 TRAPPC9 0 genome.wustl.edu 37 8 141461074 141461074 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 141461074 141461074 A T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known silent c.693 p.A231 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 49 0 0.00 61 12 16.44 TRIM25 0 genome.wustl.edu 37 17 54981616 54981616 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 54981616 54981616 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known silent c.927 p.E309 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 tier1 - - 156 0 0.00 172 16 8.51 TRIM3 0 genome.wustl.edu 37 11 6470355 6470355 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6470355 6470355 A C SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.2138 p.L713R 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 75 0 0.00 53 4 7.02 TRIM31 0 genome.wustl.edu 37 6 30080441 30080443 + In_Frame_Del DEL ATG ATG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30080441 30080443 ATG - DEL TRIM31 ENST00000376734 human ensembl 74_37 -1 known in_frame_del c.142_140 p.S47in_frame_del 0.000:0.000:0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 tier1 125 0 0.00 100 21 17.36 TRIM33 0 genome.wustl.edu 37 1 114968115 114968116 + In_Frame_Ins INS - - TGT TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 114968115 114968116 - TGT INS TRIM33 ENST00000358465 human ensembl 74_37 -1 known in_frame_ins c.1651_1650 p.550in_frame_insT 1.000:0.004 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 tier1 347 0 0.00 271 40 12.86 TRIM39 0 genome.wustl.edu 37 6 30309799 30309799 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30309799 30309799 A G SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known silent c.1320 p.A440 0.079 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 tier1 - - 70 0 0.00 54 12 18.18 TRIM41 0 genome.wustl.edu 37 5 180661428 180661428 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 180661428 180661428 G - DEL TRIM41 ENST00000315073 human ensembl 74_37 +1 known frame_shift_del c.1546 p.G517fs 0.979 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 tier1 18 0 0.00 15 3 16.67 TRIM46 0 genome.wustl.edu 37 1 155148108 155148108 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155148108 155148108 C T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.310 p.R104W 1.000 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 - - 138 0 0.00 88 13 12.87 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5664533 5664533 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 5664533 5664533 A G SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.2123 p.D708G 0.992 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 64 0 0.00 49 13 20.97 TRIM65 0 genome.wustl.edu 37 17 73888403 73888403 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 73888403 73888403 T C SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known missense c.689 p.H230R 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 45 0 0.00 32 3 8.57 TRIOBP 0 genome.wustl.edu 37 22 38120107 38120107 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 38120107 38120107 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1544 p.T515I 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 206 0 0.00 163 23 12.37 TRIOBP 0 genome.wustl.edu 37 22 38155263 38155263 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 38155263 38155263 A T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.6316 p.I2106F 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 125 0 0.00 81 18 18.18 TRMT112 0 genome.wustl.edu 37 11 64084543 64084543 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64084543 64084543 T C SNP TRMT112 ENST00000544844 human ensembl 74_37 -1 known missense c.257 p.H86R 1.000 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors TRMT112 HGNC ENSG00000173113 97 0 0.00 53 4 7.02 TRPM1 0 genome.wustl.edu 37 15 31359302 31359303 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 31359302 31359303 - C INS TRPM1 ENST00000542188 human ensembl 74_37 -1 known frame_shift_ins c.633_632 p.I212fs 1.000:1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 151 0 0.00 107 29 21.32 TRPV2 0 genome.wustl.edu 37 17 16323473 16323473 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 16323473 16323473 C T SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.245 p.A82V 0.001 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 tier1 - - 144 0 0.00 117 18 13.33 TRRAP 0 genome.wustl.edu 37 7 98545941 98545941 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 98545941 98545941 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.4625 p.T1542M 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 tier1 - - 81 0 0.00 64 14 17.72 TSC2 0 genome.wustl.edu 37 16 2120492 2120492 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2120492 2120492 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.1752 p.T584 0.000 pfam_Tuberin-type_domain,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 rs141285742 - 87 0 0.00 63 14 18.18 TSHR 0 genome.wustl.edu 37 14 81609785 81609785 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 81609785 81609785 C T SNP TSHR ENST00000298171 human ensembl 74_37 +1 known silent c.1383 p.F461 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 tier1 - - 190 0 0.00 100 28 21.88 TSHZ3 0 genome.wustl.edu 37 19 31767888 31767888 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 31767888 31767888 C G SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.2811 p.R937S 0.999 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 77 0 0.00 57 12 17.39 TSHZ3 0 genome.wustl.edu 37 19 31770119 31770119 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 31770119 31770119 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.580 p.V194M 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 82 0 0.00 78 15 16.13 TSHZ3 0 genome.wustl.edu 37 19 31769142 31769142 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 31769142 31769142 C 0 DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1557 p.D521fs 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 305 0 0.00 226 16 6.61 TSKS 0 genome.wustl.edu 37 19 50243064 50243064 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 50243064 50243064 G - DEL TSKS ENST00000246801 human ensembl 74_37 -1 known frame_shift_del c.1748 p.P583fs 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 149 0 0.00 120 24 16.67 TSKU 0 genome.wustl.edu 37 11 76506688 76506688 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 76506688 76506688 G A SNP TSKU ENST00000333090 human ensembl 74_37 +1 known missense c.28 p.A10T 0.453 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 tier1 - - 76 0 0.00 83 18 17.82 TSNAXIP1 0 genome.wustl.edu 37 16 67859964 67859964 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67859964 67859964 T C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.967 p.W323R 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 tier1 - - 102 0 0.00 72 6 7.69 TSPAN5 0 genome.wustl.edu 37 4 99397428 99397428 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 99397428 99397428 G A SNP TSPAN5 ENST00000305798 human ensembl 74_37 -1 known missense c.653 p.T218M 0.988 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 tier1 rs202045618 - 87 0 0.00 57 6 9.52 TSPEAR 0 genome.wustl.edu 37 21 45929123 45929123 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 45929123 45929123 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.1713 p.T571 0.470 NULL pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 - - 67 0 0.00 41 7 14.58 TSPO 0 genome.wustl.edu 37 22 43558871 43558871 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 43558871 43558871 G A SNP TSPO ENST00000396265 human ensembl 74_37 +1 known missense c.103 p.G35S 0.004 NULL NULL - no_errors TSPO HGNC ENSG00000100300 20 0 0.00 2 2 50.00 TSPYL5 0 genome.wustl.edu 37 8 98289982 98289982 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 98289982 98289982 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.91 p.D31N 0.913 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 tier1 - - 25 0 0.00 20 4 16.67 TTC17 0 genome.wustl.edu 37 11 43465025 43465025 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 43465025 43465025 G A SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.2402 p.R801H 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 tier1 - - 101 0 0.00 85 21 19.81 TTC24 0 genome.wustl.edu 37 1 156555050 156555050 + RNA SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 156555050 156555050 G T SNP TTC24 ENST00000478081 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC24 HGNC ENSG00000187862 tier1 - - 28 0 0.00 38 5 11.63 TTC3 0 genome.wustl.edu 37 21 38569989 38569989 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 38569989 38569989 A C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.5698 p.K1900Q 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 33 0 0.00 16 5 23.81 TTF2 0 genome.wustl.edu 37 1 117620607 117620607 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 117620607 117620607 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1643 p.R548H 0.562 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 tier1 rs137921158 - 113 0 0.00 65 23 26.14 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 112 0 0.00 72 10 12.20 TTK 0 genome.wustl.edu 37 6 80732118 80732118 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 80732118 80732118 A T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.1186 p.I396F 0.007 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 TTK HGNC ENSG00000112742 tier1 - - 92 0 0.00 69 22 24.18 TTLL13 0 genome.wustl.edu 37 15 90802111 90802111 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 90802111 90802111 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.1304 p.R435Q 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 133 0 0.00 82 14 14.58 TTLL4 0 genome.wustl.edu 37 2 219612339 219612339 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219612339 219612339 C A SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.2269 p.L757I 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 tier1 - - 195 0 0.00 110 20 15.38 TUBB8 0 genome.wustl.edu 37 10 93487 93487 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 93487 93487 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.845 p.R282Q 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 tier1 - - 128 0 0.00 113 27 19.29 TUBGCP2 0 genome.wustl.edu 37 10 135098974 135098974 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 135098974 135098974 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.1965 p.S655 0.098 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 72 0 0.00 44 4 8.33 TUBGCP6 0 genome.wustl.edu 37 22 50660956 50660956 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50660956 50660956 A T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.2336 p.L779Q 0.987 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 - - 83 0 0.00 63 16 20.25 TULP4 0 genome.wustl.edu 37 6 158735158 158735158 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 158735158 158735158 G T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.110 p.R37M 0.998 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 62 0 0.00 42 5 10.64 TUT1 0 genome.wustl.edu 37 11 62358913 62358913 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62358913 62358913 C - DEL TUT1 ENST00000308436 human ensembl 74_37 -1 known frame_shift_del c.159 p.F54fs 0.599 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 tier1 89 0 0.00 75 6 7.41 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 tier1 - - 120 0 0.00 83 47 36.15 TYK2 0 genome.wustl.edu 37 19 10465245 10465245 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10465245 10465245 C T SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.2658 p.A886 0.147 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 tier1 - - 123 0 0.00 102 7 6.42 UBAC1 0 genome.wustl.edu 37 9 138836996 138836996 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 138836996 138836996 C - DEL UBAC1 ENST00000371756 human ensembl 74_37 -1 known frame_shift_del c.754 p.A252fs 0.667 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 tier1 92 0 0.00 90 19 17.43 UBE2Q2 0 genome.wustl.edu 37 15 76189396 76189396 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 76189396 76189396 A - DEL UBE2Q2 ENST00000267938 human ensembl 74_37 +1 known frame_shift_del c.1090 p.N365fs 1.000 NULL pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 tier1 90 0 0.00 74 10 11.90 UBN2 0 genome.wustl.edu 37 7 138957170 138957170 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138957170 138957170 C T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known nonsense c.1699 p.Q567* 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 217 0 0.00 159 34 17.62 UBR4 0 genome.wustl.edu 37 1 19499675 19499675 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 19499675 19499675 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.3291 p.Q1097 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 148 0 0.00 90 18 16.67 UBXN11 0 genome.wustl.edu 37 1 26620779 26620779 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26620779 26620779 A G SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known missense c.476 p.M159T 0.379 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 tier1 - - 124 0 0.00 100 9 8.26 UBXN8 0 genome.wustl.edu 37 8 30623790 30623790 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 30623790 30623790 C T SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.735 - - - no_errors UBXN8 HGNC ENSG00000104691 tier1 - - 67 0 0.00 60 5 7.69 UGT1A7 0 genome.wustl.edu 37 2 234591149 234591149 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 234591149 234591149 A G SNP UGT1A7 ENST00000373426 human ensembl 74_37 +1 known missense c.566 p.Y189C 0.503 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 tier1 - - 268 0 0.00 182 47 20.52 ULK3 0 genome.wustl.edu 37 15 75131055 75131055 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 75131055 75131055 A G SNP ULK3 ENST00000440863 human ensembl 74_37 -1 known missense c.1031 p.L344P 1.000 pfam_MIT,smart_MIT pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom - no_errors ULK3 HGNC ENSG00000140474 tier1 - - 21 0 0.00 15 7 31.82 UMODL1 0 genome.wustl.edu 37 21 43529725 43529725 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43529725 43529725 T C SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.1573 p.C525R 0.873 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 139 0 0.00 107 24 18.18 UNC45B 0 genome.wustl.edu 37 17 33495121 33495121 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33495121 33495121 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.1193 p.A398V 1.000 pfam_UNC-45/Ring3,superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 tier1 - - 63 0 0.00 43 9 17.31 UNKL 0 genome.wustl.edu 37 16 1451628 1451628 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 1451628 1451628 C A SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.800 p.G267V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 32 0 0.00 20 5 19.23 UPF1 0 genome.wustl.edu 37 19 18976945 18976945 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18976945 18976945 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.3363 p.G1121 0.743 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 24 0 0.00 21 3 12.50 UROD 0 genome.wustl.edu 37 1 45479967 45479969 + RNA DEL TTT TTT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 45479967 45479969 TTT - DEL UROD ENST00000472254 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.013:0.030 - - - no_errors UROD HGNC ENSG00000126088 tier1 32 0 0.00 26 3 10.34 USP10 0 genome.wustl.edu 37 16 84778966 84778966 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 84778966 84778966 G - DEL USP10 ENST00000570191 human ensembl 74_37 +1 known frame_shift_del c.891 p.G298fs 0.168 NULL pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 tier1 53 0 0.00 30 4 11.76 USP16 0 genome.wustl.edu 37 21 30409707 30409707 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 30409707 30409707 A G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.559 p.M187V 0.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 75 0 0.00 62 11 15.07 USP16 0 genome.wustl.edu 37 21 30419304 30419304 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 30419304 30419304 A G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.1673 p.N558S 0.996 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 102 0 0.00 70 17 19.54 USP28 0 genome.wustl.edu 37 11 113675422 113675422 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 113675422 113675422 T C SNP USP28 ENST00000003302 human ensembl 74_37 -1 known silent c.2631 p.P877 0.993 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 129 0 0.00 100 13 11.50 USP28 0 genome.wustl.edu 37 11 113711433 113711433 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 113711433 113711433 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.421 p.R141C 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 99 0 0.00 70 18 20.45 USP38 0 genome.wustl.edu 37 4 144135652 144135652 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 144135652 144135652 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known silent c.2523 p.L841 0.890 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 tier1 - - 109 0 0.00 79 17 17.71 USP42 0 genome.wustl.edu 37 7 6196443 6196443 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6196443 6196443 A - DEL USP42 ENST00000306177 human ensembl 74_37 +1 known frame_shift_del c.3700 p.K1236fs 0.495 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 tier1 29 0 0.00 25 10 28.57 USP42 0 genome.wustl.edu 37 7 6196618 6196618 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6196618 6196618 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.3875 p.R1292H 0.004 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 tier1 - - 45 0 0.00 24 9 27.27 USP48 0 genome.wustl.edu 37 1 22033386 22033388 + In_Frame_Del DEL AAA AAA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22033386 22033388 AAA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel in_frame_del c.1975_1973 p.F658in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 52 0 0.00 44 7 13.73 USP51 0 genome.wustl.edu 37 X 55513608 55513608 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 55513608 55513608 G A SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.1765 p.P589S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 tier1 - - 97 0 0.00 46 13 22.03 UTP15 0 genome.wustl.edu 37 5 72868365 72868365 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 72868365 72868365 T G SNP UTP15 ENST00000296792 human ensembl 74_37 +1 known missense c.725 p.V242G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 tier1 - - 267 0 0.00 230 14 5.71 UTS2R 0 genome.wustl.edu 37 17 80332343 80332343 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80332343 80332343 T A SNP UTS2R ENST00000313135 human ensembl 74_37 +1 known missense c.143 p.L48Q 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn - no_errors UTS2R HGNC ENSG00000181408 tier1 - - 13 0 0.00 12 4 25.00 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 tier1 152 0 0.00 131 22 14.38 VGLL3 0 genome.wustl.edu 37 3 87018160 87018160 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 87018160 87018160 T C SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.517 p.T173A 0.997 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 tier1 - - 152 0 0.00 111 22 16.54 VIL1 0 genome.wustl.edu 37 2 219302021 219302021 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219302021 219302021 C A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.2146 p.P716T 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 tier1 - - 54 0 0.00 48 9 15.79 VN1R4 0 genome.wustl.edu 37 19 53770112 53770112 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 53770112 53770112 A G SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known silent c.807 p.T269 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 tier1 - - 80 0 0.00 48 10 17.24 VNN3 0 genome.wustl.edu 37 6 133046036 133046036 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 133046036 133046036 T G SNP VNN3 ENST00000207771 human ensembl 74_37 -1 known missense c.909 p.E303D 0.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 tier1 - - 121 0 0.00 103 10 8.85 VPS13B 0 genome.wustl.edu 37 8 100847855 100847855 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 100847855 100847855 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.9906 p.P3302 0.989 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 99 0 0.00 88 11 11.11 VPS13B 0 genome.wustl.edu 37 8 100847958 100847958 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 100847958 100847958 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10009 p.G3337R 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 49 0 0.00 49 11 18.33 VPS29 0 genome.wustl.edu 37 12 110929813 110929813 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 110929813 110929813 A T SNP VPS29 ENST00000549578 human ensembl 74_37 -1 known silent c.546 p.P182 0.112 NULL tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 tier1 - - 43 0 0.00 43 10 18.87 VPS37B 0 genome.wustl.edu 37 12 123355557 123355557 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 123355557 123355557 G T SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known missense c.163 p.L55M 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 tier1 - - 121 0 0.00 83 19 18.63 VPS39 0 genome.wustl.edu 37 15 42457942 42457942 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42457942 42457942 A T SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.1786 p.F596I 1.000 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 tier1 rs139339379 - 156 0 0.00 99 27 21.43 VPS45 0 genome.wustl.edu 37 1 150054072 150054072 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150054072 150054072 A G SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known missense c.929 p.D310G 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 40 0 0.00 18 2 10.00 VPS4A 0 genome.wustl.edu 37 16 69353327 69353328 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 69353327 69353328 - C INS VPS4A ENST00000254950 human ensembl 74_37 +1 known frame_shift_ins c.501_502 p.G169fs 0.892:1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 124 0 0.00 83 19 18.63 VWF 0 genome.wustl.edu 37 12 6204656 6204656 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 6204656 6204656 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.627 p.S209 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 237 0 0.00 152 36 19.15 WASL 0 genome.wustl.edu 37 7 123332584 123332585 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 123332584 123332585 - G INS WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_ins c.1164_1163 p.P389fs 0.289:0.998 superfamily_WASP_C pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 111 0 0.00 96 16 14.29 WBP2 0 genome.wustl.edu 37 17 73847693 73847693 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 73847693 73847693 A G SNP WBP2 ENST00000254806 human ensembl 74_37 -1 known missense c.124 p.F42L 1.000 pfam_GRAM pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2 HGNC ENSG00000132471 tier1 - - 193 0 0.00 132 45 25.42 WDFY3 0 genome.wustl.edu 37 4 85678302 85678302 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 85678302 85678302 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.5201 p.G1734D 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 104 0 0.00 97 10 9.35 WDR34 0 genome.wustl.edu 37 9 131396106 131396106 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 131396106 131396106 A G SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known missense c.1528 p.W510R 1.000 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 WDR34 HGNC ENSG00000119333 tier1 - - 128 0 0.00 108 33 23.40 WDR35 0 genome.wustl.edu 37 2 20162057 20162057 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 20162057 20162057 G A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.1226 p.T409M 0.998 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 tier1 rs143430766 - 46 0 0.00 40 6 13.04 WDR38 0 genome.wustl.edu 37 9 127617966 127617966 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 127617966 127617966 T C SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known missense c.244 p.S82P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 tier1 - - 129 0 0.00 137 8 5.52 WDR49 0 genome.wustl.edu 37 3 167248983 167248983 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 167248983 167248983 T A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1082 p.N361I 0.001 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 134 0 0.00 77 9 10.47 WDR5 0 genome.wustl.edu 37 9 137019597 137019598 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 137019597 137019598 0 C INS WDR5 ENST00000358625 human ensembl 74_37 +1 known frame_shift_ins c.641_642 p.V217fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 606 0 0.00 478 40 7.72 WDR55 0 genome.wustl.edu 37 5 140049102 140049103 + Frame_Shift_Del DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140049102 140049103 AA - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015_1016 p.K341fs 1.000:1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 tier1 50 0 0.00 29 4 12.12 WDR66 0 genome.wustl.edu 37 12 122359307 122359307 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 122359307 122359307 A C SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.96 p.E32D 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 57 0 0.00 65 11 14.47 WDR72 0 genome.wustl.edu 37 15 53997240 53997240 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 53997240 53997240 G T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.1293 p.T431 0.819 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 129 0 0.00 110 7 5.98 WDR90 0 genome.wustl.edu 37 16 703538 703538 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 703538 703538 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.1247 p.A416V 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 - - 183 0 0.00 126 33 20.75 WDR90 0 genome.wustl.edu 37 16 715651 715651 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 715651 715651 C - DEL WDR90 ENST00000315764 human ensembl 74_37 +1 known frame_shift_del c.81 p.Q29fs 0.011 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 tier1 133 0 0.00 95 14 12.84 WDR92 0 genome.wustl.edu 37 2 68384436 68384436 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 68384436 68384436 T G SNP WDR92 ENST00000295121 human ensembl 74_37 -1 known missense c.140 p.Q47P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR92 HGNC ENSG00000243667 tier1 - - 99 0 0.00 78 15 16.13 WFIKKN2 0 genome.wustl.edu 37 17 48917696 48917696 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48917696 48917696 G T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.1047 p.Q349H 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 tier1 - - 117 0 0.00 120 9 6.92 WHSC1 0 genome.wustl.edu 37 4 1957069 1957069 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 1957069 1957069 T C SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known splice_site c.2518+2 e12+2 1.000 - - - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 31 0 0.00 25 6 19.35 WISP1 0 genome.wustl.edu 37 8 134232859 134232859 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 134232859 134232859 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.385 p.R129C 0.996 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 tier1 rs199909788 - 126 0 0.00 100 10 9.09 WLS 0 genome.wustl.edu 37 1 68614286 68614286 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 68614286 68614286 C T SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.1030 p.V344I 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 42 0 0.00 19 2 9.52 WNK2 0 genome.wustl.edu 37 9 96051485 96051485 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96051485 96051485 C - DEL WNK2 ENST00000297954 human ensembl 74_37 +1 known frame_shift_del c.4560 p.H1522fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 36 0 0.00 15 6 28.57 WNK2 0 genome.wustl.edu 37 9 96061507 96061507 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96061507 96061507 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6190 p.G2064S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 67 0 0.00 46 8 14.81 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 tier1 115 0 0.00 78 10 11.36 WNT5A 0 genome.wustl.edu 37 3 55504442 55504442 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 55504442 55504442 G A SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.821 p.A274V 0.997 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 tier1 - - 35 0 0.00 23 7 23.33 WRB 0 genome.wustl.edu 37 21 40768930 40768930 + RNA SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 40768930 40768930 T A SNP WRB ENST00000466787 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors WRB HGNC ENSG00000182093 tier1 - - 40 0 0.00 21 5 19.23 WWOX 0 genome.wustl.edu 37 16 78143722 78143722 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 78143722 78143722 T G SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.220 p.F74V 0.998 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 tier1 - - 120 0 0.00 83 12 12.63 XIRP2 0 genome.wustl.edu 37 2 168115749 168115750 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 168115749 168115750 - T INS XIRP2 ENST00000420519 human ensembl 74_37 +1 known frame_shift_ins c.2792_2793 p.D933fs 0.000:0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 tier1 164 0 0.00 99 13 11.61 XPA 0 genome.wustl.edu 37 9 100449520 100449520 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 100449520 100449520 A C SNP XPA ENST00000375128 human ensembl 74_37 -1 known missense c.413 p.L138R 1.000 pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 tier1 - - 47 0 0.00 45 9 16.67 XPC 0 genome.wustl.edu 37 3 14200186 14200186 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 14200186 14200186 G A SNP XPC ENST00000285021 human ensembl 74_37 -1 known silent c.1197 p.S399 0.000 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 - - 225 0 0.00 167 15 8.24 XPOT 0 genome.wustl.edu 37 12 64812690 64812690 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 64812690 64812690 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.305 p.R102Q 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 tier1 - - 99 0 0.00 86 21 19.63 XPR1 0 genome.wustl.edu 37 1 180849394 180849394 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 180849394 180849394 A G SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.1991 p.N664S 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 tier1 - - 109 0 0.00 78 13 14.29 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 tier1 65 0 0.00 46 13 22.03 XRRA1 0 genome.wustl.edu 37 11 74554413 74554413 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 74554413 74554413 C A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.2211 p.Q737H 0.413 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 23 0 0.00 15 5 25.00 XRRA1 0 genome.wustl.edu 37 11 74638465 74638465 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 74638465 74638465 C T SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.469 p.V157M 0.996 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 41 0 0.00 17 4 19.05 YARS 0 genome.wustl.edu 37 1 33272092 33272092 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 33272092 33272092 G A SNP YARS ENST00000373477 human ensembl 74_37 -1 known silent c.501 p.P167 0.000 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 tier1 - - 201 0 0.00 132 30 18.52 YOD1 0 genome.wustl.edu 37 1 207224175 207224175 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207224175 207224175 G T SNP YOD1 ENST00000315927 human ensembl 74_37 -1 known silent c.201 p.T67 0.997 NULL pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC ENSG00000180667 tier1 - - 103 0 0.00 63 11 14.86 ZADH2 0 genome.wustl.edu 37 18 72913423 72913423 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 72913423 72913423 T - DEL ZADH2 ENST00000322342 human ensembl 74_37 -1 known frame_shift_del c.1082 p.N361fs 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ZADH2 HGNC ENSG00000180011 tier1 94 0 0.00 70 17 19.54 ZAN 0 genome.wustl.edu 37 7 100348484 100348484 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100348484 100348484 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.1486 p.V496I 0.003 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 64 0 0.00 31 20 39.22 ZBTB11 0 genome.wustl.edu 37 3 101383941 101383941 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 101383941 101383941 C T SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.1490 p.G497D 0.006 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 tier1 - - 250 0 0.00 151 36 19.25 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 90 0 0.00 71 14 16.47 ZBTB34 0 genome.wustl.edu 37 9 129642636 129642636 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 129642636 129642636 C T SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known nonsense c.958 p.R320* 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 tier1 - - 44 0 0.00 53 7 11.67 ZBTB4 0 genome.wustl.edu 37 17 7369945 7369945 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7369945 7369945 A G SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.176 p.L59P 0.801 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 54 0 0.00 38 4 9.52 ZBTB7B 0 genome.wustl.edu 37 1 154988725 154988725 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154988725 154988725 A G SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.1286 p.K429R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 132 0 0.00 105 7 6.25 ZC3H12A 0 genome.wustl.edu 37 1 37947355 37947355 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 37947355 37947355 A G SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.737 p.Y246C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 tier1 - - 91 0 0.00 72 8 10.00 ZC3H4 0 genome.wustl.edu 37 19 47588577 47588577 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47588577 47588577 C A SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.965 p.R322L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 tier1 - - 223 0 0.00 164 49 23.00 ZC3HAV1 0 genome.wustl.edu 37 7 138732537 138732537 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138732537 138732537 C T SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.2512 p.V838I 0.001 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 tier1 - - 120 0 0.00 73 16 17.98 ZCCHC11 0 genome.wustl.edu 37 1 52941046 52941047 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 52941046 52941047 0 C INS ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_ins c.2185_2184 p.K728fs 0.998:0.995 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 217 0 0.00 205 14 6.39 ZCCHC18 0 genome.wustl.edu 37 X 103359043 103359044 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 103359043 103359044 - A INS ZCCHC18 ENST00000537356 human ensembl 74_37 +1 putative frame_shift_ins c.241_242 p.L83fs 0.277:0.329 NULL superfamily_Znf_CCHC - no_errors ZCCHC18 HGNC ENSG00000166707 tier1 77 0 0.00 44 9 16.98 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 56 0 0.00 51 12 19.05 ZFHX4 0 genome.wustl.edu 37 8 77767090 77767090 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 77767090 77767090 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.7933 p.R2647fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 77 0 0.00 86 15 14.85 ZFP69 0 genome.wustl.edu 37 1 40960996 40960996 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40960996 40960996 A G SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known silent c.846 p.Q282 0.945 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 tier1 - - 45 0 0.00 38 7 15.56 ZFR 0 genome.wustl.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 32404161 32404161 T - DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.1074 p.E359fs 1.000 smart_Znf_U1 pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 tier1 110 0 0.00 82 19 18.81 ZFYVE26 0 genome.wustl.edu 37 14 68221792 68221792 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 68221792 68221792 T G SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.6962 p.K2321T 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 tier1 - - 306 0 0.00 208 28 11.86 ZFYVE28 0 genome.wustl.edu 37 4 2306283 2306283 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 2306283 2306283 T C SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1784 p.Y595C 0.015 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 tier1 - - 55 0 0.00 42 12 22.22 ZIM3 0 genome.wustl.edu 37 19 57647396 57647396 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 57647396 57647396 T G SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known missense c.309 p.E103D 0.000 NULL 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 ZIM3 HGNC ENSG00000141946 tier1 - - 205 0 0.00 137 8 5.52 ZMAT1 0 genome.wustl.edu 37 X 101138598 101138598 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 101138598 101138598 T - DEL ZMAT1 ENST00000372782 human ensembl 74_37 -1 known frame_shift_del c.1801 p.S601fs 0.777 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 181 0 0.00 111 26 18.98 ZMPSTE24 0 genome.wustl.edu 37 1 40735799 40735799 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40735799 40735799 G A SNP ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known silent c.627 p.L209 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 tier1 - - 179 0 0.00 151 21 12.21 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 tier1 77 0 0.00 63 11 14.86 ZMYM2 0 genome.wustl.edu 37 13 20580589 20580589 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 20580589 20580589 G A SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known missense c.1375 p.A459T 1.000 smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 28 0 0.00 22 2 8.33 ZMYM3 0 genome.wustl.edu 37 X 70472510 70472511 + Frame_Shift_Del DEL AG AG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 70472510 70472511 AG - DEL ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_del c.596_595 p.L199fs 0.979:0.976 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 69 0 0.00 42 8 16.00 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 tier1 79 0 0.00 70 13 15.66 ZMYM5 0 genome.wustl.edu 37 13 20399261 20399261 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 20399261 20399261 T - DEL ZMYM5 ENST00000337963 human ensembl 74_37 -1 known frame_shift_del c.1366 p.I456fs 0.018 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 tier1 21 0 0.00 22 7 24.14 ZMYM5 0 genome.wustl.edu 37 13 20412966 20412966 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 20412966 20412966 T C SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.746 p.K249R 0.989 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 tier1 - - 338 0 0.00 251 33 11.62 ZNF160 0 genome.wustl.edu 37 19 53571351 53571351 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 53571351 53571351 G A SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known silent c.2436 p.T812 0.990 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 ZNF160 HGNC ENSG00000170949 tier1 - - 138 0 0.00 118 22 15.71 ZNF213 0 genome.wustl.edu 37 16 3191181 3191181 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3191181 3191181 G A SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.1213 p.D405N 0.081 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 tier1 - - 110 0 0.00 60 22 26.83 ZNF280D 0 genome.wustl.edu 37 15 56923914 56923917 + Frame_Shift_Del DEL AACT AACT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AACT AACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 56923914 56923917 AACT - DEL ZNF280D ENST00000267807 human ensembl 74_37 -1 known frame_shift_del c.2722_2719 p.S907fs 1.000:1.000:0.999:0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 117 0 0.00 90 19 17.43 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 87969484 87969484 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 19 0 0.00 18 6 25.00 ZNF292 0 genome.wustl.edu 37 6 87971031 87971031 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 87971031 87971031 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.7684 p.R2562C 0.271 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 88 0 0.00 49 12 19.67 ZNF358 0 genome.wustl.edu 37 19 7585101 7585101 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 7585101 7585101 G T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.973 p.G325C 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 tier1 - - 162 0 0.00 135 14 9.40 ZNF383 0 genome.wustl.edu 37 19 37733610 37733610 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 37733610 37733610 A G SNP ZNF383 ENST00000352998 human ensembl 74_37 +1 known missense c.472 p.T158A 0.958 NULL 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 ZNF383 HGNC ENSG00000188283 tier1 - - 87 0 0.00 63 9 12.50 ZNF407 0 genome.wustl.edu 37 18 72344920 72344920 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 72344920 72344920 T C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known silent c.1945 p.L649 0.133 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 128 0 0.00 81 21 20.59 ZNF407 0 genome.wustl.edu 37 18 72632589 72632589 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 72632589 72632589 A C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5369 p.N1790T 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 42 0 0.00 21 8 27.59 ZNF417 0 genome.wustl.edu 37 19 58421256 58421256 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 58421256 58421256 A G SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known silent c.390 p.D130 0.000 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 ZNF417 HGNC ENSG00000173480 tier1 - - 29 0 0.00 28 9 24.32 ZNF423 0 genome.wustl.edu 37 16 49672395 49672395 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 49672395 49672395 T C SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.668 p.K223R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 76 0 0.00 46 13 22.03 ZNF461 0 genome.wustl.edu 37 19 37130626 37130626 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 37130626 37130626 A - DEL ZNF461 ENST00000588268 human ensembl 74_37 -1 known frame_shift_del c.621 p.F207fs 0.446 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 ZNF461 HGNC ENSG00000197808 tier1 80 0 0.00 71 13 15.48 ZNF500 0 genome.wustl.edu 37 16 4802885 4802885 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 4802885 4802885 G - DEL ZNF500 ENST00000219478 human ensembl 74_37 -1 known frame_shift_del c.935 p.P312fs 0.003 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 tier1 102 0 0.00 83 15 15.31 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL 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 ZNF506 HGNC ENSG00000081665 tier1 97 0 0.00 83 17 17.00 ZNF512B 0 genome.wustl.edu 37 20 62597524 62597524 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62597524 62597524 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.1004 p.R335H 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 tier1 - - 103 0 0.00 76 17 18.28 ZNF516 0 genome.wustl.edu 37 18 74090902 74090902 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 74090902 74090902 T A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.3167 p.D1056V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 tier1 - - 136 0 0.00 92 15 14.02 ZNF521 0 genome.wustl.edu 37 18 22806910 22806910 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 22806910 22806910 T - DEL ZNF521 ENST00000361524 human ensembl 74_37 -1 known frame_shift_del c.972 p.E324fs 0.944 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 57 0 0.00 50 10 16.67 ZNF574 0 genome.wustl.edu 37 19 42583760 42583760 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42583760 42583760 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.1272 p.G424 0.530 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 tier1 - - 163 0 0.00 111 22 16.54 ZNF574 0 genome.wustl.edu 37 19 42585228 42585228 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42585228 42585228 T C SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2740 p.C914R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 tier1 - - 131 0 0.00 105 15 12.50 ZNF577 0 genome.wustl.edu 37 19 52376178 52376178 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 52376178 52376178 T C SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known silent c.1065 p.S355 0.002 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 ZNF577 HGNC ENSG00000161551 tier1 - - 85 0 0.00 66 15 18.52 ZNF597 0 genome.wustl.edu 37 16 3487150 3487150 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3487150 3487150 T - DEL ZNF597 ENST00000301744 human ensembl 74_37 -1 known frame_shift_del c.549 p.K183fs 0.003 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 - no_errors ZNF597 HGNC ENSG00000167981 tier1 253 0 0.00 188 32 14.55 ZNF615 0 genome.wustl.edu 37 19 52497089 52497089 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 52497089 52497089 A G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1273 p.C425R 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 ZNF615 HGNC ENSG00000197619 tier1 - - 93 0 0.00 63 6 8.70 ZNF616 0 genome.wustl.edu 37 19 52619685 52619685 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 52619685 52619685 A G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.732 p.D244 0.009 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 ZNF616 HGNC ENSG00000204611 tier1 - - 109 0 0.00 91 8 8.08 ZNF618 0 genome.wustl.edu 37 9 116770827 116770827 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 116770827 116770827 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.747 p.I249 0.997 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 tier1 - - 71 0 0.00 34 8 19.05 ZNF629 0 genome.wustl.edu 37 16 30793803 30793803 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30793803 30793803 A G SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.1846 p.S616P 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 10 0 0.00 7 3 30.00 ZNF644 0 genome.wustl.edu 37 1 91382293 91382293 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 91382293 91382293 A - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 tier1 34 0 0.00 17 7 29.17 ZNF679 0 genome.wustl.edu 37 7 63726730 63726730 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 63726730 63726730 A G SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.719 p.Y240C 0.097 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 ZNF679 HGNC ENSG00000197123 tier1 - - 39 0 0.00 39 4 9.30 ZNF683 0 genome.wustl.edu 37 1 26688423 26688423 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26688423 26688423 G T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known silent c.1294 p.R432 0.699 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 tier1 - - 94 0 0.00 76 16 17.39 ZNF718 0 genome.wustl.edu 37 4 124619 124619 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 124619 124619 C T SNP ZNF718 ENST00000511079 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF718 HGNC ENSG00000250312 tier1 - - 151 0 0.00 105 24 18.46 ZNF774 0 genome.wustl.edu 37 15 90903714 90903714 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 90903714 90903714 C T SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known silent c.651 p.S217 0.221 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 tier1 rs145112167 - 73 0 0.00 77 15 16.30 ZNF776 0 genome.wustl.edu 37 19 58264857 58264857 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 58264857 58264857 A - DEL ZNF776 ENST00000317178 human ensembl 74_37 +1 known frame_shift_del c.359 p.K122fs 0.001 NULL 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 ZNF776 HGNC ENSG00000152443 tier1 107 0 0.00 56 12 17.65 ZNF793 0 genome.wustl.edu 37 19 38028170 38028170 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38028170 38028170 A G SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.610 p.M204V 0.003 NULL 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 ZNF793 HGNC ENSG00000188227 tier1 - - 55 0 0.00 43 7 14.00 ZNF835 0 genome.wustl.edu 37 19 57175758 57175758 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 57175758 57175758 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.809 p.R270H 0.034 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 29 0 0.00 26 7 21.21 ZNF845 0 genome.wustl.edu 37 19 53855133 53855133 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 53855133 53855133 G A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.015 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 ZNF845 HGNC ENSG00000213799 tier1 - - 144 0 0.00 123 23 15.75 ZNF90 0 genome.wustl.edu 37 19 20236361 20236361 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 20236361 20236361 A - DEL ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.863 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 15 0 0.00 12 4 25.00 ZNRF2P2 0 genome.wustl.edu 37 7 29690683 29690683 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 29690683 29690683 C T SNP ZNRF2P2 ENST00000426767 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNRF2P2 HGNC ENSG00000225264 tier1 - - 29 0 0.00 14 10 41.67 ZP4 0 genome.wustl.edu 37 1 238050750 238050750 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 238050750 238050750 G A SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.665 p.A222V 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 tier1 - - 123 0 0.00 99 13 11.61 ZSCAN18 0 genome.wustl.edu 37 19 58600183 58600183 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 58600183 58600183 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.593 p.A198V 0.000 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 tier1 - - 118 0 0.00 84 15 15.15 ZSCAN29 0 genome.wustl.edu 37 15 43658906 43658906 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 43658906 43658906 G A SNP ZSCAN29 ENST00000566849 human ensembl 74_37 -1 known missense c.590 p.A197V 0.004 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 127 0 0.00 66 8 10.81 ZSWIM8 0 genome.wustl.edu 37 10 75550923 75550923 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75550923 75550923 A G SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.1132 p.T378A 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 - - 30 0 0.00 27 5 15.62 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 24 0 0.00 21 3 12.50 ZZEF1 0 genome.wustl.edu 37 17 3968022 3968022 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 3968022 3968022 T A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4351 p.S1451C 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 152 0 0.00 126 13 9.35 COL11A1 0 genome.wustl.edu 37 1 103540183 103540183 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 103540183 103540183 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.642 p.E214D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 43 0 0 21 8 27.5862 SLC25A24 0 genome.wustl.edu 37 1 108703903 108703903 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 108703903 108703903 A G SNP SLC25A24 ENST00000264128 human ensembl 74_37 -1 known missense c.323 p.M108T 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SLC25A24 HGNC ENSG00000085491 95 0 0 63 10 13.6986 GPSM2 0 genome.wustl.edu 37 1 109446858 109446858 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109446858 109446858 A G SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1174 p.I392V 0.015 NULL pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 64 0 0 55 7 11.2903 GPSM2 0 genome.wustl.edu 37 1 109466819 109466819 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109466819 109466819 A C SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1798 p.I600L 1.000 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 49 0 0 30 12 28.5714 CELSR2 0 genome.wustl.edu 37 1 109795976 109795976 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109795976 109795976 G T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3275 p.R1092L 0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 53 0 0 32 11 25.5814 CELSR2 0 genome.wustl.edu 37 1 109811254 109811254 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 109811254 109811254 T C SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6370 p.W2124R 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 44 0 0 43 5 10.4167 GSTM3 0 genome.wustl.edu 37 1 110280142 110280142 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 110280142 110280142 A G SNP GSTM3 ENST00000256594 human ensembl 74_37 -1 known silent c.516 p.R172 0.995 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM3 HGNC ENSG00000134202 110 0 0 95 7 6.86275 SLC6A17 0 genome.wustl.edu 37 1 110740210 110740210 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 110740210 110740210 A T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.1804 p.I602F 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_orphan - no_errors SLC6A17 HGNC ENSG00000197106 63 0 0 41 8 16.3265 KCNA10 0 genome.wustl.edu 37 1 111060811 111060811 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 111060811 111060811 C T SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.599 p.R200H 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 106 0 0 73 8 9.87654 KCNA10 0 genome.wustl.edu 37 1 111060976 111060976 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 111060976 111060976 T C SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.434 p.Y145C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 103 0 0 81 10 10.989 KCNA3 0 genome.wustl.edu 37 1 111216712 111216712 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 111216712 111216712 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.720 p.S240 0.947 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 139 0 0 105 22 17.3228 EXOSC10 0 genome.wustl.edu 37 1 11147582 11147582 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 11147582 11147582 A C SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1012 p.F338V 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 266 0 0 211 65 23.5507 MTOR 0 genome.wustl.edu 37 1 11204706 11204706 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 11204706 11204706 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4871 p.Q1624R 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 63 0 0 49 5 9.25926 HIPK1 0 genome.wustl.edu 37 1 114497277 114497277 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 114497277 114497277 G A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.1205 p.R402H 1.000 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_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 HIPK1 HGNC ENSG00000163349 42 0 0 39 16 29.0909 MAB21L3 0 genome.wustl.edu 37 1 116666771 116666771 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 116666771 116666771 T C SNP MAB21L3 ENST00000369500 human ensembl 74_37 +1 known missense c.274 p.Y92H 0.992 NULL pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 122 0 0 80 18 18.3673 B3GALT6 0 genome.wustl.edu 37 1 1168187 1168187 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 1168187 1168187 C A SNP B3GALT6 ENST00000379198 human ensembl 74_37 +1 known missense c.529 p.R177S 0.803 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT6 HGNC ENSG00000176022 11 0 0 8 3 27.2727 TTF2 0 genome.wustl.edu 37 1 117620607 117620607 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 117620607 117620607 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1643 p.R548H 0.562 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 104 0 0 61 21 25.6098 KIAA2013 0 genome.wustl.edu 37 1 11982665 11982665 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 11982665 11982665 G T SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known silent c.1915 p.R639 0.001 NULL pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 20 0 0 13 3 18.75 PLOD1 0 genome.wustl.edu 37 1 12025621 12025621 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 12025621 12025621 G A SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1696 p.D566N 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 99 0 0 83 17 17 PDE4DIP 0 genome.wustl.edu 37 1 144921875 144921875 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 144921875 144921875 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1154 p.E385A 0.939 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 610 0 0 558 53 8.6743 ENSG00000255168 0 genome.wustl.edu 37 1 145281636 145281636 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 145281636 145281636 C T SNP ENSG00000255168 ENST00000468030 human ensembl 74_37 +1 known missense c.566 p.S189L 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors RP11-458D21.5 Clone_based_vega_gene ENSG00000255168 226 0 0 206 18 8.03571 PIAS3 0 genome.wustl.edu 37 1 145580583 145580583 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 145580583 145580583 C T SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known missense c.883 p.R295W 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 56 0 0 42 6 12.5 TARS2 0 genome.wustl.edu 37 1 150476863 150476863 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150476863 150476863 T A SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1670 p.I557N 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 50 0 0 29 4 12.1212 ECM1 0 genome.wustl.edu 37 1 150483523 150483523 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150483523 150483523 A C SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.638 p.Q213P 0.127 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 346 0 0 234 47 16.726 HORMAD1 0 genome.wustl.edu 37 1 150689667 150689667 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150689667 150689667 G A SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.125 p.T42M 0.999 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 127 0 0 102 22 17.7419 FAM63A 0 genome.wustl.edu 37 1 150971953 150971953 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 150971953 150971953 C T SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known silent c.1017 p.A339 0.072 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 223 0 0 158 28 15.0538 PRUNE 0 genome.wustl.edu 37 1 151006689 151006689 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151006689 151006689 A G SNP PRUNE ENST00000271620 human ensembl 74_37 +1 known silent c.1341 p.T447 0.001 NULL pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 171 0 0 128 19 12.9252 PI4KB 0 genome.wustl.edu 37 1 151266533 151266533 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151266533 151266533 T C SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.2266 p.M756V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 84 0 0 78 15 16.129 SELENBP1 0 genome.wustl.edu 37 1 151337121 151337121 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151337121 151337121 G A SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known silent c.1443 p.N481 1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 226 0 0 130 31 19.2547 POGZ 0 genome.wustl.edu 37 1 151380950 151380950 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151380950 151380950 G T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.2169 p.D723E 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 94 0 0 75 20 21.0526 CGN 0 genome.wustl.edu 37 1 151493103 151493103 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151493103 151493103 C A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.1076 p.A359E 0.893 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 32 0 0 35 3 7.89474 HRNR 0 genome.wustl.edu 37 1 152192588 152192588 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152192588 152192588 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1517 p.R506Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 456 0 0 326 61 15.7623 HRNR 0 genome.wustl.edu 37 1 152193015 152193015 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152193015 152193015 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1090 p.H364Y 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 202 0 0 146 22 13.0952 ZBTB7B 0 genome.wustl.edu 37 1 154988725 154988725 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154988725 154988725 A G SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.1286 p.K429R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 119 0 0 92 6 6.12245 DCST1 0 genome.wustl.edu 37 1 155014015 155014015 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155014015 155014015 G A SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.674 p.R225H 0.000 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 116 0 0 72 18 20 TRIM46 0 genome.wustl.edu 37 1 155148108 155148108 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155148108 155148108 C T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.310 p.R104W 1.000 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 117 0 0 82 11 11.828 CLK2 0 genome.wustl.edu 37 1 155239307 155239307 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155239307 155239307 C T SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.371 p.R124H 0.985 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 CLK2 HGNC ENSG00000176444 118 0 0 99 20 16.8067 RUSC1 0 genome.wustl.edu 37 1 155300241 155300241 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155300241 155300241 T A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known nonsense c.2588 p.L863* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 60 0 0 60 6 9.09091 YY1AP1 0 genome.wustl.edu 37 1 155638508 155638508 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155638508 155638508 G C SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.1203 p.S401R 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 92 0 0 92 5 5.15464 GON4L 0 genome.wustl.edu 37 1 155790395 155790395 + Splice_Site SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155790395 155790395 A C SNP GON4L ENST00000368331 human ensembl 74_37 -1 known splice_site c.1014+2 e5+2 1.000 - - - no_errors GON4L HGNC ENSG00000116580 57 0 0 40 11 21.5686 GON4L 0 genome.wustl.edu 37 1 155791289 155791289 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 155791289 155791289 A G SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.939 p.S313 0.936 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 98 0 0 69 9 11.5385 BCAN 0 genome.wustl.edu 37 1 156617399 156617399 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 156617399 156617399 C T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.566 p.P189L 0.999 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 132 1 0.75188 95 20 17.3913 RRNAD1 0 genome.wustl.edu 37 1 156702120 156702120 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 156702120 156702120 C T SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.284 p.A95V 0.997 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 56 0 0 53 8 13.1148 NTRK1 0 genome.wustl.edu 37 1 156845893 156845893 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 156845893 156845893 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.1523 p.R508Q 0.993 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 147 0 0 125 28 18.3007 KIRREL 0 genome.wustl.edu 37 1 158064543 158064543 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 158064543 158064543 G A SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1955 p.R652H 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 86 0 0 59 22 27.1605 CD1A 0 genome.wustl.edu 37 1 158226062 158226062 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 158226062 158226062 C A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known silent c.594 p.L198 0.003 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 128 0 0 77 15 16.3043 AGMAT 0 genome.wustl.edu 37 1 15905361 15905361 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 15905361 15905361 C T SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.713 p.R238Q 0.999 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 33 0 0 30 8 21.0526 CD84 0 genome.wustl.edu 37 1 160523852 160523852 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 160523852 160523852 T G SNP CD84 ENST00000534968 human ensembl 74_37 -1 known missense c.131 p.E44A 0.908 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 70 0 0 70 6 7.89474 ITLN2 0 genome.wustl.edu 37 1 160914976 160914976 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 160914976 160914976 C T SNP ITLN2 ENST00000368029 human ensembl 74_37 -1 known missense c.932 p.C311Y 0.963 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN2 HGNC ENSG00000158764 45 0 0 42 12 22.2222 SPEN 0 genome.wustl.edu 37 1 16202981 16202981 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 16202981 16202981 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.689 p.G230V 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 112 0 0 87 11 11.2245 RXRG 0 genome.wustl.edu 37 1 165379995 165379995 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 165379995 165379995 C T SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.857 p.R286H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 53 0 0 33 6 15.3846 SLC35E2 0 genome.wustl.edu 37 1 1670383 1670383 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 1670383 1670383 T A SNP SLC35E2 ENST00000246421 human ensembl 74_37 -1 known missense c.436 p.M146L 1.000 pfam_DMT pfam_DMT - no_errors SLC35E2 HGNC ENSG00000215790 45 0 0 35 8 18.6047 DUSP27 0 genome.wustl.edu 37 1 167095543 167095543 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 167095543 167095543 T C SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.1175 p.I392T 0.968 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 8 0 0 2 3 60 NECAP2 0 genome.wustl.edu 37 1 16774557 16774557 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 16774557 16774557 C T SNP NECAP2 ENST00000443980 human ensembl 74_37 +1 known nonsense c.301 p.R101* 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 194 0 0 136 34 20 CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 29 0 0 39 8 17.0213 SUCO 0 genome.wustl.edu 37 1 172558174 172558174 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 172558174 172558174 C T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.2389 p.R797W 0.834 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 55 0 0 36 15 29.4118 PADI2 0 genome.wustl.edu 37 1 17431488 17431488 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 17431488 17431488 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.161 p.R54H 0.003 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 56 0 0 31 16 34.0426 XPR1 0 genome.wustl.edu 37 1 180849394 180849394 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 180849394 180849394 A G SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.1991 p.N664S 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 94 0 0 65 12 15.5844 CACNA1E 0 genome.wustl.edu 37 1 181706742 181706742 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 181706742 181706742 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.3504 p.I1168 0.978 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 176 0 0 118 27 18.6207 CACNA1E 0 genome.wustl.edu 37 1 181727135 181727135 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 181727135 181727135 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4382 p.P1461L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 114 0 0 118 10 7.8125 DHX9 0 genome.wustl.edu 37 1 182849650 182849650 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 182849650 182849650 C T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.2531 p.A844V 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 77 0 0 52 7 11.8644 FAM129A 0 genome.wustl.edu 37 1 184792782 184792782 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 184792782 184792782 G A SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.812 p.T271M 1.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 61 0 0 58 11 15.942 HMCN1 0 genome.wustl.edu 37 1 186084010 186084010 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 186084010 186084010 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11336 p.G3779V 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 186 1 0.534759 148 13 8.07453 KLHDC7A 0 genome.wustl.edu 37 1 18809393 18809393 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 18809393 18809393 G T SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1918 p.G640C 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 42 0 0 20 4 16.6667 KLHDC7A 0 genome.wustl.edu 37 1 18809471 18809471 + Nonsense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 18809471 18809471 A T SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known nonsense c.1996 p.K666* 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 50 0 0 41 8 16.3265 ALDH4A1 0 genome.wustl.edu 37 1 19208376 19208376 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 19208376 19208376 G A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known silent c.684 p.N228 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 37 0 0 36 5 12.1951 UBR4 0 genome.wustl.edu 37 1 19499675 19499675 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 19499675 19499675 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.3291 p.Q1097 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 127 0 0 78 18 18.75 CRB1 0 genome.wustl.edu 37 1 197390846 197390846 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 197390846 197390846 T G SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1888 p.F630V 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 171 0 0 117 31 20.9459 KIF21B 0 genome.wustl.edu 37 1 200948728 200948728 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 200948728 200948728 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.4095 p.S1365 0.975 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 292 0 0 194 47 19.5021 CSRP1 0 genome.wustl.edu 37 1 201454493 201454493 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 201454493 201454493 C A SNP CSRP1 ENST00000340006 human ensembl 74_37 -1 known missense c.423 p.K141N 0.978 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP1 HGNC ENSG00000159176 112 0 0 88 10 10.2041 GPR37L1 0 genome.wustl.edu 37 1 202097020 202097020 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 202097020 202097020 C T SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.782 p.T261M 0.898 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 70 0 0 51 6 10.5263 ADORA1 0 genome.wustl.edu 37 1 203134422 203134422 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 203134422 203134422 G A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.375 p.A125 0.000 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_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 81 0 0 34 6 15 CNTN2 0 genome.wustl.edu 37 1 205042274 205042274 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 205042274 205042274 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.2923 p.E975K 0.987 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 70 0 0 78 8 9.30233 DSTYK 0 genome.wustl.edu 37 1 205156906 205156906 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 205156906 205156906 A G SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known silent c.294 p.P98 0.340 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 DSTYK HGNC ENSG00000133059 35 0 0 28 6 17.6471 MFSD4 0 genome.wustl.edu 37 1 205549930 205549930 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 205549930 205549930 C G SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known missense c.571 p.L191V 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 92 0 0 84 6 6.66667 PIGR 0 genome.wustl.edu 37 1 207112537 207112537 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207112537 207112537 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known silent c.315 p.S105 0.013 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 44 0 0 42 11 20.7547 YOD1 0 genome.wustl.edu 37 1 207224175 207224175 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207224175 207224175 G T SNP YOD1 ENST00000315927 human ensembl 74_37 -1 known silent c.201 p.T67 0.997 NULL pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC ENSG00000180667 95 0 0 62 11 15.0685 CR1L 0 genome.wustl.edu 37 1 207868046 207868046 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207868046 207868046 A G SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.812 p.K271R 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 197 0 0 143 12 7.74194 CR1L 0 genome.wustl.edu 37 1 207890816 207890816 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 207890816 207890816 T G SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.1422 p.F474L 0.459 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 136 0 0 104 11 9.56522 KIF17 0 genome.wustl.edu 37 1 21042005 21042005 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 21042005 21042005 T C SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.359 p.H120R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 124 0 0 89 8 8.24742 EIF4G3 0 genome.wustl.edu 37 1 21154129 21154129 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 21154129 21154129 T C SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.4100 p.H1367R 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 50 0 0 31 14 31.1111 FAM71A 0 genome.wustl.edu 37 1 212798505 212798505 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 212798505 212798505 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.286 p.E96K 0.006 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 64 0 0 45 7 13.4615 SMYD2 0 genome.wustl.edu 37 1 214492252 214492252 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 214492252 214492252 G T SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known missense c.460 p.A154S 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 113 0 0 61 15 19.7368 RAP1GAP 0 genome.wustl.edu 37 1 21924941 21924941 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 21924941 21924941 T C SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.2023 p.T675A 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 74 0 0 49 15 23.4375 HSPG2 0 genome.wustl.edu 37 1 22202409 22202409 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22202409 22202409 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3130 p.A1044T 0.017 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 133 0 0 108 17 13.6 HSPG2 0 genome.wustl.edu 37 1 22216952 22216952 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22216952 22216952 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.381 p.P127 0.241 smart_SEA_dom,pfscan_SEA_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 120 0 0 76 26 25.4902 DISP1 0 genome.wustl.edu 37 1 223177026 223177026 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 223177026 223177026 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2287 p.R763C 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 90 0 0 61 13 17.5676 CDC42 0 genome.wustl.edu 37 1 22408234 22408234 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 22408234 22408234 T G SNP CDC42 ENST00000421089 human ensembl 74_37 +1 known missense c.251 p.V84G 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CDC42 HGNC ENSG00000070831 88 0 0 70 8 10.2564 LEFTY2 0 genome.wustl.edu 37 1 226125452 226125452 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 226125452 226125452 A G SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known missense c.790 p.C264R 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 39 0 0 27 6 18.1818 CDC42BPA 0 genome.wustl.edu 37 1 227203899 227203899 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 227203899 227203899 C A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known splice_site c.4635-1 e33-1 1.000 - - - no_errors CDC42BPA HGNC ENSG00000143776 90 0 0 60 13 17.8082 JMJD4 0 genome.wustl.edu 37 1 227920195 227920195 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 227920195 227920195 C T SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known silent c.1290 p.A430 0.027 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 87 0 0 84 13 13.4021 OBSCN 0 genome.wustl.edu 37 1 228400200 228400200 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 228400200 228400200 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.716 p.P239L 0.512 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 52 0 0 33 5 13.1579 OBSCN 0 genome.wustl.edu 37 1 228492183 228492183 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 228492183 228492183 A C SNP OBSCN ENST00000366707 human ensembl 74_37 +1 known missense c.4252 p.I1418L 0.981 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,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 179 0 0 150 19 11.2426 NUP133 0 genome.wustl.edu 37 1 229580735 229580735 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 229580735 229580735 T C SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.3260 p.D1087G 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 121 0 0 81 19 19 IRF2BP2 0 genome.wustl.edu 37 1 234744260 234744260 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 234744260 234744260 C A SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel missense c.981 p.K327N 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 27 0 0 18 6 25 ZP4 0 genome.wustl.edu 37 1 238050750 238050750 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 238050750 238050750 G A SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.665 p.A222V 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 112 0 0 87 12 12.1212 ZBTB18 0 genome.wustl.edu 37 1 244218632 244218632 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 244218632 244218632 A T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1556 p.D519V 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 130 0 0 99 6 5.71429 OR2W5 0 genome.wustl.edu 37 1 247655019 247655019 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 247655019 247655019 C T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OR2W5 HGNC ENSG00000203664 174 0 0 134 12 8.21918 OR14A16 0 genome.wustl.edu 37 1 247978699 247978699 + Silent SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 247978699 247978699 G C SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known silent c.333 p.L111 0.066 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 109 0 0 86 17 16.5049 MMEL1 0 genome.wustl.edu 37 1 2541187 2541187 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 2541187 2541187 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.376 p.R126C 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 77 0 0 65 9 12.1622 PAFAH2 0 genome.wustl.edu 37 1 26316044 26316044 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26316044 26316044 T C SNP PAFAH2 ENST00000374282 human ensembl 74_37 -1 known missense c.139 p.M47V 0.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote - no_errors PAFAH2 HGNC ENSG00000158006 30 0 0 26 5 16.129 UBXN11 0 genome.wustl.edu 37 1 26620779 26620779 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26620779 26620779 A G SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known missense c.476 p.M159T 0.379 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 113 0 0 85 9 9.57447 ZNF683 0 genome.wustl.edu 37 1 26688423 26688423 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26688423 26688423 G T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known silent c.1294 p.R432 0.699 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 90 0 0 75 15 16.6667 ARID1A 0 genome.wustl.edu 37 1 27106424 27106424 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 27106424 27106424 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6035 p.G2012D 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 89 0 0 68 13 16.0494 AHDC1 0 genome.wustl.edu 37 1 27876706 27876706 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 27876706 27876706 T A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.1921 p.S641C 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 164 0 0 151 18 10.6509 RPA2 0 genome.wustl.edu 37 1 28233741 28233741 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28233741 28233741 G A SNP RPA2 ENST00000313433 human ensembl 74_37 -1 known missense c.434 p.A145V 1.000 superfamily_NA-bd_OB-fold pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors RPA2 HGNC ENSG00000117748 230 0 0 168 39 18.8406 SESN2 0 genome.wustl.edu 37 1 28598946 28598946 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28598946 28598946 G A SNP SESN2 ENST00000253063 human ensembl 74_37 +1 known missense c.506 p.R169Q 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 93 0 0 74 18 19.5652 RCC1 0 genome.wustl.edu 37 1 28861886 28861886 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 28861886 28861886 G C SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.748 p.G250R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 69 0 0 49 9 15.5172 KPNA6 0 genome.wustl.edu 37 1 32626257 32626257 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 32626257 32626257 T A SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known silent c.615 p.V205 0.999 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 63 0 0 67 13 16.25 YARS 0 genome.wustl.edu 37 1 33272092 33272092 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 33272092 33272092 G A SNP YARS ENST00000373477 human ensembl 74_37 -1 known silent c.501 p.P167 0.000 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 175 0 0 112 29 20.5674 ADC 0 genome.wustl.edu 37 1 33560207 33560207 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 33560207 33560207 G A SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.646 p.A216T 1.000 pfam_De-COase2_N pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 132 0 0 85 29 25.4386 TPRG1L 0 genome.wustl.edu 37 1 3545083 3545083 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 3545083 3545083 C T SNP TPRG1L ENST00000378344 human ensembl 74_37 +1 known silent c.735 p.I245 0.992 NULL pfam_Inositol_phosphatase - no_errors TPRG1L HGNC ENSG00000158109 57 0 0 41 10 19.6078 NCDN 0 genome.wustl.edu 37 1 36025969 36025969 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36025969 36025969 C T SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.217 p.R73W 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 267 0 0 225 20 8.16327 CLSPN 0 genome.wustl.edu 37 1 36212440 36212440 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36212440 36212440 T C SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known silent c.2781 p.L927 0.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 102 0 0 81 14 14.7368 ADPRHL2 0 genome.wustl.edu 37 1 36557274 36557274 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 36557274 36557274 A C SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.364 p.T122P 0.976 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 133 0 0 84 17 16.8317 ZC3H12A 0 genome.wustl.edu 37 1 37947355 37947355 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 37947355 37947355 A G SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.737 p.Y246C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 86 0 0 67 8 10.6667 C1orf109 0 genome.wustl.edu 37 1 38155545 38155545 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 38155545 38155545 T C SNP C1orf109 ENST00000358011 human ensembl 74_37 -1 known missense c.8 p.Q3R 0.003 NULL NULL - no_errors C1orf109 HGNC ENSG00000116922 42 0 0 28 11 28.2051 INPP5B 0 genome.wustl.edu 37 1 38411520 38411520 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 38411520 38411520 C T SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known silent c.60 p.A20 0.994 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 84 0 0 86 7 7.52688 POU3F1 0 genome.wustl.edu 37 1 38511619 38511619 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 38511619 38511619 C T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known missense c.797 p.R266H 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 74 0 0 62 13 17.3333 KIAA0754 0 genome.wustl.edu 37 1 39879328 39879328 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 39879328 39879328 G A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.2983 p.A995T 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 40 0 0 42 6 12.5 NT5C1A 0 genome.wustl.edu 37 1 40131298 40131298 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40131298 40131298 G T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.328 p.L110M 0.968 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 90 0 0 71 10 12.3457 RLF 0 genome.wustl.edu 37 1 40702285 40702285 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40702285 40702285 A C SNP RLF ENST00000372771 human ensembl 74_37 +1 known silent c.1911 p.P637 0.009 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 148 0 0 118 24 16.9014 ZMPSTE24 0 genome.wustl.edu 37 1 40735799 40735799 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40735799 40735799 G A SNP ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known silent c.627 p.L209 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 154 0 0 138 20 12.6582 ZFP69 0 genome.wustl.edu 37 1 40960996 40960996 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 40960996 40960996 A G SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known silent c.846 p.Q282 0.945 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 45 0 0 33 6 15.3846 HIVEP3 0 genome.wustl.edu 37 1 42046170 42046170 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 42046170 42046170 T C SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.4299 p.S1433 0.835 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 193 0 0 145 29 16.6667 HIVEP3 0 genome.wustl.edu 37 1 42048715 42048715 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 42048715 42048715 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1754 p.R585Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 124 0 0 88 9 9.27835 GUCA2B 0 genome.wustl.edu 37 1 42620453 42620453 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 42620453 42620453 G A SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known missense c.193 p.A65T 0.000 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 110 0 0 79 7 8.13953 TIE1 0 genome.wustl.edu 37 1 43775150 43775150 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43775150 43775150 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1280 p.R427H 1.000 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 59 0 0 41 14 25.4545 CDC20 0 genome.wustl.edu 37 1 43824985 43824985 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43824985 43824985 G A SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known silent c.99 p.K33 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 141 0 0 115 12 9.44882 CDC20 0 genome.wustl.edu 37 1 43826885 43826885 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43826885 43826885 C T SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.1172 p.A391V 1.000 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,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 24 0 0 19 3 13.6364 SLC6A9 0 genome.wustl.edu 37 1 44463618 44463618 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 44463618 44463618 A C SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1835 p.I612S 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_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 78 0 0 52 5 8.77193 DMAP1 0 genome.wustl.edu 37 1 44685902 44685902 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 44685902 44685902 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.1265 p.A422V 0.998 NULL pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 29 0 0 26 6 18.75 KIF2C 0 genome.wustl.edu 37 1 45218905 45218905 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 45218905 45218905 T G SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.541 p.S181A 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 71 0 0 66 5 7.04225 LRRC41 0 genome.wustl.edu 37 1 46751711 46751711 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 46751711 46751711 C T SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.818 p.R273Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 58 0 0 39 12 23.5294 STIL 0 genome.wustl.edu 37 1 47717264 47717264 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 47717264 47717264 T C SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.3411 p.E1137 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 193 1 0.515464 162 15 8.47458 DMRTA2 0 genome.wustl.edu 37 1 50885133 50885133 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 50885133 50885133 G A SNP DMRTA2 ENST00000404795 human ensembl 74_37 -1 known missense c.833 p.P278L 0.999 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA2 HGNC ENSG00000142700 31 0 0 40 5 11.1111 DMRTB1 0 genome.wustl.edu 37 1 53925243 53925243 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 53925243 53925243 G A SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known silent c.117 p.K39 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 17 0 0 19 6 24 NFIA 0 genome.wustl.edu 37 1 61818185 61818185 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 61818185 61818185 A G SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.899 p.Y300C 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 87 0 0 68 5 6.84932 INADL 0 genome.wustl.edu 37 1 62545184 62545184 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 62545184 62545184 A G SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.4188 p.I1396M 0.877 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 133 0 0 101 7 6.48148 RNF207 0 genome.wustl.edu 37 1 6272464 6272464 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6272464 6272464 C T SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel silent c.1470 p.V490 0.001 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 38 0 0 36 13 26.5306 RNF207 0 genome.wustl.edu 37 1 6279354 6279354 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6279354 6279354 A C SNP RNF207 ENST00000377939 human ensembl 74_37 +1 novel missense c.1792 p.S598R 0.715 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC ENSG00000158286 94 0 0 60 4 6.25 GPR153 0 genome.wustl.edu 37 1 6314953 6314953 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6314953 6314953 G A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.13 p.R5W 0.996 prints_GPR153 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 83 0 0 53 16 23.1884 FOXD3 0 genome.wustl.edu 37 1 63790037 63790037 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 63790037 63790037 G A SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known silent c.1308 p.S436 0.992 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 22 0 0 15 6 28.5714 PHF13 0 genome.wustl.edu 37 1 6681475 6681475 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6681475 6681475 C T SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known silent c.681 p.D227 0.483 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 57 0 0 32 7 17.9487 LRRC7 0 genome.wustl.edu 37 1 70505179 70505179 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 70505179 70505179 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.3558 p.A1186 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 57 0 0 49 11 18.3333 ANKRD13C 0 genome.wustl.edu 37 1 70766510 70766510 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 70766510 70766510 C T SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known silent c.858 p.A286 0.921 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 37 0 0 36 6 14.2857 LHX8 0 genome.wustl.edu 37 1 75626507 75626507 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 75626507 75626507 A G SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.998 p.H333R 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 109 1 0.909091 73 15 17.0455 ST6GALNAC5 0 genome.wustl.edu 37 1 77334221 77334221 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 77334221 77334221 T C SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.55 p.C19R 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 62 0 0 33 9 21.4286 DNAJB4 0 genome.wustl.edu 37 1 78478836 78478836 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 78478836 78478836 T C SNP DNAJB4 ENST00000370763 human ensembl 74_37 +1 known missense c.313 p.S105P 0.908 NULL pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB4 HGNC ENSG00000162616 129 1 0.769231 124 12 8.82353 GLMN 0 genome.wustl.edu 37 1 92729250 92729250 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 92729250 92729250 T C SNP GLMN ENST00000370360 human ensembl 74_37 -1 known missense c.1339 p.I447V 0.926 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 158 0 0 112 29 20.5674 GFI1 0 genome.wustl.edu 37 1 92946569 92946569 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 92946569 92946569 G A SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known silent c.375 p.S125 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 34 0 0 21 4 16 F3 0 genome.wustl.edu 37 1 95001576 95001576 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 95001576 95001576 A C SNP F3 ENST00000334047 human ensembl 74_37 -1 known silent c.357 p.G119 0.000 superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC ENSG00000117525 233 0 0 180 14 7.21649 DPYD 0 genome.wustl.edu 37 1 97658740 97658740 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 97658740 97658740 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2507 p.A836V 1.000 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 49 0 0 36 5 12.1951 DPYD 0 genome.wustl.edu 37 1 97915675 97915675 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 97915675 97915675 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known silent c.1845 p.E615 0.989 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 113 0 0 69 19 21.5909 LPPR5 0 genome.wustl.edu 37 1 99469994 99469994 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 99469994 99469994 G A SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known silent c.234 p.L78 0.997 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 LPPR5 Uniprot_gn ENSG00000117598 29 0 0 17 3 15 DNMBP 0 genome.wustl.edu 37 10 101656145 101656145 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 101656145 101656145 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3002 p.Y1001C 1.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 145 0 0 104 16 13.3333 C10orf76 0 genome.wustl.edu 37 10 103609552 103609552 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 103609552 103609552 G A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.1958 p.A653V 1.000 pfam_DUF1741 pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 183 0 0 145 23 13.6905 ACTR1A 0 genome.wustl.edu 37 10 104247992 104247992 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 104247992 104247992 T C SNP ACTR1A ENST00000369905 human ensembl 74_37 -1 known missense c.230 p.H77R 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1A HGNC ENSG00000138107 92 0 0 90 18 16.6667 ITPRIP 0 genome.wustl.edu 37 10 106075561 106075561 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 106075561 106075561 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known silent c.249 p.R83 0.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 217 0 0 156 42 21.2121 SORCS1 0 genome.wustl.edu 37 10 108378020 108378020 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 108378020 108378020 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2807 p.T936I 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 78 0 0 34 8 19.0476 NHLRC2 0 genome.wustl.edu 37 10 115618425 115618425 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115618425 115618425 C T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known missense c.317 p.T106I 0.235 superfamily_Thioredoxin-like_fold pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 179 0 0 149 17 10.241 NHLRC2 0 genome.wustl.edu 37 10 115664653 115664653 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115664653 115664653 A C SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known silent c.1782 p.L594 0.892 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 109 0 0 84 9 9.67742 C10orf118 0 genome.wustl.edu 37 10 115896980 115896980 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115896980 115896980 G A SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known nonsense c.1291 p.R431* 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 32 0 0 23 5 17.8571 TDRD1 0 genome.wustl.edu 37 10 115977310 115977310 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115977310 115977310 A C SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.2219 p.K740T 0.000 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 51 0 0 45 8 15.0943 PNLIP 0 genome.wustl.edu 37 10 118310665 118310665 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 118310665 118310665 C A SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known missense c.380 p.S127Y 0.880 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 31 0 0 24 6 20 MCMBP 0 genome.wustl.edu 37 10 121602088 121602088 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 121602088 121602088 G A SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known silent c.1026 p.S342 0.000 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 102 0 0 78 8 9.30233 SEC61A2 0 genome.wustl.edu 37 10 12203088 12203088 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 12203088 12203088 T C SNP SEC61A2 ENST00000298428 human ensembl 74_37 +1 known missense c.1135 p.W379R 0.999 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 78 0 0 62 13 17.3333 DMBT1 0 genome.wustl.edu 37 10 124339277 124339277 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 124339277 124339277 A G SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.863 p.Q288R 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR 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 363 1 0.274725 244 40 14.0845 DMBT1 0 genome.wustl.edu 37 10 124339284 124339284 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 124339284 124339284 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.870 p.G290 0.019 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR 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 342 1 0.291545 234 35 13.0112 CTBP2 0 genome.wustl.edu 37 10 126715332 126715332 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 126715332 126715332 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.997 p.A333T 0.999 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 78 0 0 48 8 14.2857 MCM10 0 genome.wustl.edu 37 10 13213021 13213021 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 13213021 13213021 A C SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.107 p.N36T 0.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 265 0 0 210 33 13.5802 SEPHS1 0 genome.wustl.edu 37 10 13375848 13375848 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 13375848 13375848 T C SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.529 p.T177A 1.000 superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 73 0 0 38 11 22.449 TTC40 0 genome.wustl.edu 37 10 134622111 134622111 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 134622111 134622111 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.2445 p.A815 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 32 0 0 36 3 7.69231 KNDC1 0 genome.wustl.edu 37 10 135012650 135012650 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 135012650 135012650 G T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.2638 p.D880Y 0.284 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 17 0 0 18 4 18.1818 CYP2E1 0 genome.wustl.edu 37 10 135350628 135350628 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 135350628 135350628 T C SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known silent c.1029 p.D343 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 80 0 0 64 20 23.8095 CUBN 0 genome.wustl.edu 37 10 17151670 17151670 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 17151670 17151670 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.1080 p.C360 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 82 0 0 55 8 12.6984 ARL5B 0 genome.wustl.edu 37 10 18948572 18948572 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 18948572 18948572 G A SNP ARL5B ENST00000377275 human ensembl 74_37 +1 known silent c.6 p.G2 1.000 smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ENSG00000165997 37 0 0 24 3 11.1111 MTPAP 0 genome.wustl.edu 37 10 30629220 30629220 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 30629220 30629220 G A SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.880 p.R294W 0.012 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 87 0 0 56 17 23.2877 FZD8 0 genome.wustl.edu 37 10 35929104 35929104 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 35929104 35929104 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known silent c.1254 p.S418 0.996 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 40 0 0 23 5 17.8571 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 56 0 0 59 7 10.6061 RASGEF1A 0 genome.wustl.edu 37 10 43695140 43695140 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 43695140 43695140 G T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.833 p.A278D 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 45 0 0 40 12 23.0769 SYT15 0 genome.wustl.edu 37 10 46965734 46965734 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 46965734 46965734 A G SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known missense c.962 p.L321P 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 117 0 0 85 7 7.6087 SYT15 0 genome.wustl.edu 37 10 46969318 46969318 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 46969318 46969318 G A SNP SYT15 ENST00000374321 human ensembl 74_37 -1 known missense c.143 p.A48V 0.017 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 68 0 0 50 6 10.7143 GDF2 0 genome.wustl.edu 37 10 48413794 48413794 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 48413794 48413794 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.1074 p.G358 0.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 100 0 0 68 21 23.5955 ARHGAP22 0 genome.wustl.edu 37 10 49687769 49687769 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 49687769 49687769 C T SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.361 p.E121K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 30 0 0 25 4 13.7931 ERCC6 0 genome.wustl.edu 37 10 50732704 50732704 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 50732704 50732704 T C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.772 p.K258E 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 194 0 0 130 33 20.2454 CHAT 0 genome.wustl.edu 37 10 50827801 50827801 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 50827801 50827801 C A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.418 p.Q140K 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 52 0 0 33 3 8.33333 FBXO18 0 genome.wustl.edu 37 10 5969498 5969498 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 5969498 5969498 G T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.2976 p.L992F 1.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 80 0 0 46 5 9.80392 ANK3 0 genome.wustl.edu 37 10 61926408 61926408 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 61926408 61926408 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2555 p.R852H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 55 0 0 33 12 26.6667 CCAR1 0 genome.wustl.edu 37 10 70513668 70513668 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70513668 70513668 A G SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.1178 p.D393G 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 188 0 0 136 21 13.3758 CCAR1 0 genome.wustl.edu 37 10 70530982 70530982 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70530982 70530982 T C SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.2318 p.L773P 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 82 0 0 58 13 18.3099 SUPV3L1 0 genome.wustl.edu 37 10 70968515 70968515 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 70968515 70968515 C T SNP SUPV3L1 ENST00000359655 human ensembl 74_37 +1 known silent c.2085 p.S695 0.018 NULL pfam_SUV3_C,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 96 0 0 78 7 8.23529 PPA1 0 genome.wustl.edu 37 10 71977567 71977567 + Splice_Site SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 71977567 71977567 C G SNP PPA1 ENST00000373232 human ensembl 74_37 -1 known splice_site c.297+1 e4+1 1.000 - - - no_errors PPA1 HGNC ENSG00000180817 91 0 0 51 8 13.5593 ADAMTS14 0 genome.wustl.edu 37 10 72468361 72468361 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 72468361 72468361 C A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.697 p.L233I 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 68 0 0 44 6 12 SFMBT2 0 genome.wustl.edu 37 10 7326073 7326073 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 7326073 7326073 C A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.565 p.G189C 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 105 0 0 72 20 21.7391 ANXA7 0 genome.wustl.edu 37 10 75160584 75160584 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75160584 75160584 A G SNP ANXA7 ENST00000372919 human ensembl 74_37 -1 known missense c.31 p.Y11H 1.000 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV - no_errors ANXA7 HGNC ENSG00000138279 71 0 0 59 10 14.4928 PPP3CB 0 genome.wustl.edu 37 10 75204509 75204509 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75204509 75204509 G A SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known missense c.1343 p.A448V 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 33 0 0 44 6 12 SYNPO2L 0 genome.wustl.edu 37 10 75407872 75407872 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75407872 75407872 T C SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.1538 p.Q513R 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 24 0 0 13 4 23.5294 AGAP5 0 genome.wustl.edu 37 10 75451802 75451802 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75451802 75451802 T C SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.395 p.H132R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,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 AGAP5 HGNC ENSG00000172650 33 0 0 58 6 9.375 ZSWIM8 0 genome.wustl.edu 37 10 75550923 75550923 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 75550923 75550923 A G SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.1132 p.T378A 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 29 0 0 27 5 15.625 MINPP1 0 genome.wustl.edu 37 10 89272954 89272954 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 89272954 89272954 T C SNP MINPP1 ENST00000371996 human ensembl 74_37 +1 known silent c.909 p.D303 0.998 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 85 0 0 67 17 20.2381 PCGF5 0 genome.wustl.edu 37 10 93024278 93024278 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 93024278 93024278 G A SNP PCGF5 ENST00000336126 human ensembl 74_37 +1 known splice_site c.663+1 e7+1 1.000 - - - no_errors PCGF5 HGNC ENSG00000180628 112 0 0 95 26 21.4876 LARP4B 0 genome.wustl.edu 37 10 930435 930435 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 930435 930435 A G SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known silent c.93 p.P31 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 64 0 0 40 10 20 TUBB8 0 genome.wustl.edu 37 10 93487 93487 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 93487 93487 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.845 p.R282Q 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 124 0 0 105 27 20.4545 ALDH18A1 0 genome.wustl.edu 37 10 97402772 97402772 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 97402772 97402772 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.280 p.R94C 0.981 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 43 0 0 32 11 25.5814 BLNK 0 genome.wustl.edu 37 10 97987266 97987266 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 97987266 97987266 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.261 p.P87 0.001 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 145 0 0 134 37 21.6374 TLL2 0 genome.wustl.edu 37 10 98145927 98145927 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 98145927 98145927 C A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known missense c.1898 p.S633I 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 132 0 0 104 11 9.56522 LCOR 0 genome.wustl.edu 37 10 98714922 98714922 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 98714922 98714922 A T SNP LCOR ENST00000356016 human ensembl 74_37 +1 known missense c.545 p.N182I 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 97 0 0 55 20 26.6667 BIRC2 0 genome.wustl.edu 37 11 102221012 102221012 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102221012 102221012 T A SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.427 p.L143M 0.009 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 173 0 0 135 17 11.1842 BIRC2 0 genome.wustl.edu 37 11 102221453 102221453 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102221453 102221453 C A SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.868 p.L290I 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 139 0 0 111 9 7.5 MMP20 0 genome.wustl.edu 37 11 102465465 102465465 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102465465 102465465 T C SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.977 p.H326R 0.987 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 54 0 0 46 8 14.8148 MMP1 0 genome.wustl.edu 37 11 102663443 102663443 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102663443 102663443 T C SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known missense c.926 p.Y309C 0.001 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 155 0 0 100 10 9.09091 MMP3 0 genome.wustl.edu 37 11 102713455 102713455 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 102713455 102713455 A C SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.298 p.F100V 0.997 pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 45 0 0 37 6 13.9535 MUC2 0 genome.wustl.edu 37 11 1086014 1086014 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 1086014 1086014 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.2854 p.R952W 0.036 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 72 0 0 45 17 27.4194 C11orf53 0 genome.wustl.edu 37 11 111156426 111156426 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 111156426 111156426 C A SNP C11orf53 ENST00000280325 human ensembl 74_37 +1 known missense c.358 p.P120T 0.002 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 103 0 0 73 18 19.7802 SIK2 0 genome.wustl.edu 37 11 111591459 111591459 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 111591459 111591459 A C SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.1753 p.R585 0.808 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 101 0 0 72 20 21.7391 USP28 0 genome.wustl.edu 37 11 113675422 113675422 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 113675422 113675422 T C SNP USP28 ENST00000003302 human ensembl 74_37 -1 known silent c.2631 p.P877 0.993 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 106 0 0 85 11 11.4583 USP28 0 genome.wustl.edu 37 11 113711433 113711433 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 113711433 113711433 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.421 p.R141C 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 90 0 0 60 17 22.0779 NXPE1 0 genome.wustl.edu 37 11 114401614 114401614 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 114401614 114401614 T G SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.116 p.N39T 0.144 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 70 0 0 58 11 15.942 APOA4 0 genome.wustl.edu 37 11 116691961 116691961 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 116691961 116691961 G A SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known silent c.813 p.A271 0.001 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 100 0 0 86 26 23.2143 CEP164 0 genome.wustl.edu 37 11 117214935 117214935 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 117214935 117214935 C T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.136 p.L46 1.000 superfamily_WW_dom superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 36 0 0 18 3 14.2857 KMT2A 0 genome.wustl.edu 37 11 118343989 118343989 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 118343989 118343989 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.2115 p.S705 0.872 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 55 0 0 50 7 12.2807 FOXR1 0 genome.wustl.edu 37 11 118851386 118851386 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 118851386 118851386 C T SNP FOXR1 ENST00000317011 human ensembl 74_37 +1 known silent c.798 p.R266 0.011 pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR1 HGNC ENSG00000176302 78 0 0 59 15 20.2703 C2CD2L 0 genome.wustl.edu 37 11 118982338 118982338 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 118982338 118982338 C T SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known silent c.1018 p.L340 0.998 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 50 0 0 41 8 16.3265 NLRX1 0 genome.wustl.edu 37 11 119045329 119045329 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119045329 119045329 T C SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known silent c.1017 p.G339 0.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 169 0 0 126 27 17.6471 CCDC153 0 genome.wustl.edu 37 11 119063905 119063905 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119063905 119063905 C T SNP CCDC153 ENST00000415318 human ensembl 74_37 -1 known missense c.305 p.S102N 0.043 superfamily_t-SNARE superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 121 0 0 88 20 18.5185 MCAM 0 genome.wustl.edu 37 11 119182586 119182586 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119182586 119182586 C T SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.1217 p.R406H 1.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 215 0 0 143 32 18.2857 TMEM136 0 genome.wustl.edu 37 11 120200688 120200688 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 120200688 120200688 T G SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known missense c.268 p.S90A 0.498 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 112 0 0 71 7 8.97436 TECTA 0 genome.wustl.edu 37 11 121023729 121023729 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121023729 121023729 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4245 p.N1415 0.968 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 47 0 0 35 5 12.5 SORL1 0 genome.wustl.edu 37 11 121448043 121448043 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121448043 121448043 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3514 p.R1172C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 84 0 0 72 21 22.5806 SORL1 0 genome.wustl.edu 37 11 121454237 121454237 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121454237 121454237 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.3651 p.A1217 0.004 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 60 0 0 29 10 25.641 SORL1 0 genome.wustl.edu 37 11 121454270 121454270 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121454270 121454270 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.3684 p.S1228 0.380 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 63 0 0 29 5 14.7059 SORL1 0 genome.wustl.edu 37 11 121461769 121461769 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 121461769 121461769 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.4273 p.R1425C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 247 0 0 215 22 9.2827 C11orf63 0 genome.wustl.edu 37 11 122829967 122829967 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 122829967 122829967 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.2151 p.Y717 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 132 0 0 95 18 15.9292 OR10G8 0 genome.wustl.edu 37 11 123900612 123900612 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 123900612 123900612 A C SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.283 p.S95R 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 170 1 0.584795 112 17 13.1783 STT3A 0 genome.wustl.edu 37 11 125476316 125476316 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 125476316 125476316 C A SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.736 p.L246M 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 158 0 0 105 25 19.2308 KIRREL3 0 genome.wustl.edu 37 11 126305200 126305200 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 126305200 126305200 T C SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known splice_site c.1553-2 e13-2 1.000 - - - no_errors KIRREL3 HGNC ENSG00000149571 87 0 0 44 17 27.8689 MUC5B 0 genome.wustl.edu 37 11 1272919 1272919 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 1272919 1272919 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.14818 p.S4940P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 95 0 0 58 10 14.7059 MUC5B 0 genome.wustl.edu 37 11 1275426 1275426 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 1275426 1275426 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.15331 p.R5111C 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 76 0 0 67 11 14.1026 KCNJ5 0 genome.wustl.edu 37 11 128781788 128781788 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 128781788 128781788 T C SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.620 p.V207A 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 122 0 0 88 13 12.8713 BARX2 0 genome.wustl.edu 37 11 129321068 129321068 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 129321068 129321068 A C SNP BARX2 ENST00000281437 human ensembl 74_37 +1 known missense c.611 p.K204T 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 56 0 0 50 6 10.7143 ADAMTS15 0 genome.wustl.edu 37 11 130343474 130343474 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 130343474 130343474 G A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.2611 p.G871R 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 73 0 0 51 15 22.7273 MRGPRX4 0 genome.wustl.edu 37 11 18194860 18194860 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18194860 18194860 G T SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known missense c.57 p.E19D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 228 0 0 181 38 17.3516 HPS5 0 genome.wustl.edu 37 11 18330492 18330492 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18330492 18330492 C A SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known splice_site c.611+1 e5+1 1.000 - - - no_errors HPS5 HGNC ENSG00000110756 55 0 0 44 10 18.5185 LDHA 0 genome.wustl.edu 37 11 18424437 18424437 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18424437 18424437 C T SNP LDHA ENST00000540430 human ensembl 74_37 +1 known missense c.556 p.R186C 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 113 0 0 87 8 8.42105 PTPN5 0 genome.wustl.edu 37 11 18764870 18764870 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 18764870 18764870 G A SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.398 p.T133M 0.037 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 116 0 0 82 8 8.88889 B4GALNT4 0 genome.wustl.edu 37 11 375671 375671 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 375671 375671 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.883 p.H295Y 1.000 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 110 0 0 83 6 6.74157 PKP3 0 genome.wustl.edu 37 11 397114 397114 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 397114 397114 G A SNP PKP3 ENST00000331563 human ensembl 74_37 +1 known missense c.613 p.A205T 0.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 65 0 0 54 8 12.9032 TTC17 0 genome.wustl.edu 37 11 43465025 43465025 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 43465025 43465025 G A SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.2402 p.R801H 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 90 0 0 79 19 19.3878 ACCSL 0 genome.wustl.edu 37 11 44069815 44069815 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 44069815 44069815 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.229 p.R77W 0.001 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 173 0 0 134 20 12.987 PHF21A 0 genome.wustl.edu 37 11 45987063 45987063 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 45987063 45987063 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known silent c.799 p.L267 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 39 0 0 30 7 18.9189 F2 0 genome.wustl.edu 37 11 46760822 46760822 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 46760822 46760822 T G SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.1733 p.F578C 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 111 0 0 87 12 12.1212 LRP4 0 genome.wustl.edu 37 11 46897504 46897504 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 46897504 46897504 T C SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.3550 p.T1184A 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 46 0 0 33 6 15.3846 ARFGAP2 0 genome.wustl.edu 37 11 47198137 47198137 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47198137 47198137 A T SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.121 p.Y41N 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 104 0 0 70 14 16.6667 SLC39A13 0 genome.wustl.edu 37 11 47431804 47431804 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47431804 47431804 C T SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known silent c.159 p.S53 0.986 NULL pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 75 0 0 63 5 7.35294 C1QTNF4 0 genome.wustl.edu 37 11 47612307 47612307 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47612307 47612307 G A SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known missense c.56 p.P19L 0.194 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 14 0 0 9 3 25 MTCH2 0 genome.wustl.edu 37 11 47648652 47648652 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47648652 47648652 A T SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known missense c.661 p.Y221N 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH2 HGNC ENSG00000109919 40 0 0 20 10 33.3333 OR5L2 0 genome.wustl.edu 37 11 55595518 55595518 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 55595518 55595518 C T SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.824 p.T275I 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 108 0 0 74 11 12.9412 OR5F1 0 genome.wustl.edu 37 11 55761972 55761972 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 55761972 55761972 C T SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.130 p.G44R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 80 0 0 58 8 12.1212 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5664533 5664533 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 5664533 5664533 A G SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.2123 p.D708G 0.992 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 63 0 0 47 13 21.6667 PHRF1 0 genome.wustl.edu 37 11 592634 592634 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 592634 592634 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.580 p.R194C 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 199 0 0 152 40 20.8333 PHRF1 0 genome.wustl.edu 37 11 607382 607382 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 607382 607382 T C SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.1926 p.L642 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 198 0 0 116 13 10.0775 IRF7 0 genome.wustl.edu 37 11 615287 615287 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 615287 615287 G T SNP IRF7 ENST00000330243 human ensembl 74_37 -1 known missense c.32 p.P11H 0.013 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 22 0 0 10 4 28.5714 FEN1 0 genome.wustl.edu 37 11 61563408 61563408 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61563408 61563408 G A SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known missense c.575 p.R192Q 1.000 pfam_XPG-I_dom,smart_XPG-I_dom pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 87 0 0 73 20 21.5054 FADS3 0 genome.wustl.edu 37 11 61647523 61647523 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61647523 61647523 C T SNP FADS3 ENST00000278829 human ensembl 74_37 -1 known missense c.314 p.G105E 0.996 superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 68 0 0 45 9 16.6667 EML3 0 genome.wustl.edu 37 11 62374436 62374436 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62374436 62374436 C T SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1498 p.A500T 1.000 superfamily_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 84 0 0 61 15 19.7368 EML3 0 genome.wustl.edu 37 11 62374502 62374502 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62374502 62374502 A G SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.1432 p.S478P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 117 0 0 66 11 14.2857 FAM160A2 0 genome.wustl.edu 37 11 6245066 6245066 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6245066 6245066 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.551 p.C184Y 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 113 0 0 73 23 23.9583 LRRN4CL 0 genome.wustl.edu 37 11 62455848 62455848 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62455848 62455848 C T SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.133 p.A45T 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 60 0 0 39 7 15.2174 TMEM223 0 genome.wustl.edu 37 11 62558340 62558340 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62558340 62558340 G A SNP TMEM223 ENST00000307366 human ensembl 74_37 -1 known missense c.364 p.R122C 0.991 NULL NULL - no_errors TMEM223 HGNC ENSG00000168569 19 0 0 18 4 18.1818 CNGA4 0 genome.wustl.edu 37 11 6265540 6265540 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6265540 6265540 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known silent c.1629 p.E543 0.987 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 66 0 0 49 11 18.3333 SLC22A8 0 genome.wustl.edu 37 11 62766540 62766540 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62766540 62766540 C T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.614 p.R205Q 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 98 0 0 66 8 10.8108 BAD 0 genome.wustl.edu 37 11 64037781 64037781 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64037781 64037781 C T SNP BAD ENST00000309032 human ensembl 74_37 -1 known missense c.407 p.G136D 1.000 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 114 0 0 56 15 21.1268 TRMT112 0 genome.wustl.edu 37 11 64084543 64084543 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64084543 64084543 T C SNP TRMT112 ENST00000544844 human ensembl 74_37 -1 known missense c.257 p.H86R 1.000 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors TRMT112 HGNC ENSG00000173113 87 0 0 48 4 7.69231 CDC42BPG 0 genome.wustl.edu 37 11 64594190 64594190 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64594190 64594190 C G SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.4466 p.R1489P 0.875 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 17 0 0 15 4 21.0526 CDC42BPG 0 genome.wustl.edu 37 11 64602414 64602414 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64602414 64602414 T C SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.2082 p.S694 0.081 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 98 0 0 59 17 22.3684 TRIM3 0 genome.wustl.edu 37 11 6470355 6470355 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6470355 6470355 A C SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.2138 p.L713R 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 71 0 0 48 4 7.69231 FAU 0 genome.wustl.edu 37 11 64888221 64888221 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64888221 64888221 A G SNP FAU ENST00000527548 human ensembl 74_37 -1 known missense c.334 p.Y112H 1.000 pfam_Ribosomal_S30 pfam_Ribosomal_S30,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors FAU HGNC ENSG00000149806 151 0 0 128 12 8.57143 SYVN1 0 genome.wustl.edu 37 11 64895929 64895929 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64895929 64895929 A G SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known silent c.1779 p.P593 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 60 0 0 37 12 24.4898 DPF2 0 genome.wustl.edu 37 11 65113757 65113757 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65113757 65113757 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known missense c.944 p.A315V 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 71 0 0 51 14 21.5385 MALAT1 0 genome.wustl.edu 37 11 65266625 65266625 + RNA SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65266625 65266625 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 59 0 0 31 7 18.4211 MALAT1 0 genome.wustl.edu 37 11 65269191 65269191 + RNA SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65269191 65269191 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors MALAT1 HGNC ENSG00000251562 80 0 0 47 18 27.6923 MALAT1 0 genome.wustl.edu 37 11 65270819 65270819 + RNA SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65270819 65270819 T A SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 52 0 0 37 3 7.5 LTBP3 0 genome.wustl.edu 37 11 65310639 65310639 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65310639 65310639 T A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.2533 p.N845Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 158 0 0 114 15 11.6279 EHBP1L1 0 genome.wustl.edu 37 11 65349628 65349628 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65349628 65349628 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known silent c.1485 p.L495 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 33 0 0 27 7 20.5882 KCNK7 0 genome.wustl.edu 37 11 65361212 65361212 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65361212 65361212 T A SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known silent c.453 p.P151 0.005 pirsf_2pore_dom_K_chnl_TASK pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 84 0 0 68 6 8.10811 PACS1 0 genome.wustl.edu 37 11 66002812 66002812 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 66002812 66002812 C T SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known silent c.2145 p.N715 0.401 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 101 0 0 54 18 25 RRP8 0 genome.wustl.edu 37 11 6624664 6624664 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6624664 6624664 T C SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known silent c.69 p.R23 0.001 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 27 0 0 21 4 16 DCHS1 0 genome.wustl.edu 37 11 6662302 6662302 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6662302 6662302 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.543 p.A181 0.063 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 89 0 0 63 15 19.2308 LRFN4 0 genome.wustl.edu 37 11 66625383 66625383 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 66625383 66625383 T C SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known silent c.168 p.A56 0.021 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 63 0 0 39 14 26.4151 MRPL17 0 genome.wustl.edu 37 11 6703513 6703513 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 6703513 6703513 C A SNP MRPL17 ENST00000288937 human ensembl 74_37 -1 known missense c.364 p.V122L 1.000 pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 - no_errors MRPL17 HGNC ENSG00000158042 121 0 0 87 18 17.1429 SSH3 0 genome.wustl.edu 37 11 67079326 67079326 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67079326 67079326 G A SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.1948 p.V650M 0.999 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 103 0 0 90 15 14.2857 CLCF1 0 genome.wustl.edu 37 11 67132908 67132908 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67132908 67132908 G A SNP CLCF1 ENST00000312438 human ensembl 74_37 -1 known missense c.377 p.T126I 0.108 pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CLCF1 HGNC ENSG00000175505 42 0 0 44 8 15.3846 PPP1CA 0 genome.wustl.edu 37 11 67166585 67166585 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67166585 67166585 C T SNP PPP1CA ENST00000312989 human ensembl 74_37 -1 known silent c.606 p.R202 0.999 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 72 0 0 75 18 19.3548 PITPNM1 0 genome.wustl.edu 37 11 67264892 67264892 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67264892 67264892 G A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.1956 p.P652 0.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 103 0 0 84 26 23.6364 ACY3 0 genome.wustl.edu 37 11 67412625 67412625 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67412625 67412625 T C SNP ACY3 ENST00000255082 human ensembl 74_37 -1 known splice_site c.527-2 e4-2 1.000 - - - no_errors ACY3 HGNC ENSG00000132744 140 0 0 101 9 8.18182 SUV420H1 0 genome.wustl.edu 37 11 67925352 67925352 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67925352 67925352 A G SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.2461 p.Y821H 0.989 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 143 0 0 98 34 25.7576 SUV420H1 0 genome.wustl.edu 37 11 67926254 67926254 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 67926254 67926254 T A SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1559 p.N520I 0.005 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 119 0 0 86 17 16.5049 LRTOMT 0 genome.wustl.edu 37 11 71806460 71806460 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 71806460 71806460 C T SNP LRTOMT ENST00000289488 human ensembl 74_37 +1 known missense c.473 p.T158M 0.992 NULL NULL - no_errors LRTOMT HGNC ENSG00000184154 73 0 0 80 11 12.0879 ARHGEF17 0 genome.wustl.edu 37 11 73020911 73020911 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73020911 73020911 T C SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1228 p.S410P 0.737 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 87 0 0 66 12 15.3846 RAB6A 0 genome.wustl.edu 37 11 73429864 73429864 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73429864 73429864 A T SNP RAB6A ENST00000310653 human ensembl 74_37 -1 known missense c.255 p.D85E 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 118 0 0 112 22 16.4179 C2CD3 0 genome.wustl.edu 37 11 73795974 73795974 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73795974 73795974 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.3952 p.L1318F 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 66 0 0 54 8 12.9032 C2CD3 0 genome.wustl.edu 37 11 73825523 73825523 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73825523 73825523 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1636 p.E546K 0.954 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 89 0 0 48 16 25 XRRA1 0 genome.wustl.edu 37 11 74554413 74554413 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 74554413 74554413 C A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.2211 p.Q737H 0.413 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 21 0 0 14 5 26.3158 KLHL35 0 genome.wustl.edu 37 11 75136621 75136621 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 75136621 75136621 G A SNP KLHL35 ENST00000539798 human ensembl 74_37 -1 known silent c.1191 p.F397 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL35 HGNC ENSG00000149243 23 0 0 17 3 15 TSKU 0 genome.wustl.edu 37 11 76506688 76506688 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 76506688 76506688 G A SNP TSKU ENST00000333090 human ensembl 74_37 +1 known missense c.28 p.A10T 0.453 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 67 0 0 72 16 18.1818 CAPN5 0 genome.wustl.edu 37 11 76826568 76826568 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 76826568 76826568 A G SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.827 p.K276R 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 69 0 0 56 5 8.19672 TENM4 0 genome.wustl.edu 37 11 78433881 78433881 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 78433881 78433881 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3632 p.R1211H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 55 0 0 43 12 21.8182 ANKRD42 0 genome.wustl.edu 37 11 82909605 82909605 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 82909605 82909605 G A SNP ANKRD42 ENST00000393389 human ensembl 74_37 +1 known missense c.143 p.R48H 0.123 superfamily_Ankyrin_rpt-contain_dom,smart_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 - no_errors ANKRD42 HGNC ENSG00000137494 39 0 0 34 11 24.4444 SYTL2 0 genome.wustl.edu 37 11 85468698 85468698 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 85468698 85468698 G A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.71 p.A24V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 452 0 0 345 41 10.6218 GRM5 0 genome.wustl.edu 37 11 88242070 88242070 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 88242070 88242070 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.3329 p.T1110M 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 13 0 0 18 4 18.1818 SCUBE2 0 genome.wustl.edu 37 11 9111258 9111258 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 9111258 9111258 A C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.252 p.C84W 0.970 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 145 0 0 109 13 10.6557 DENND5A 0 genome.wustl.edu 37 11 9215216 9215216 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 9215216 9215216 A G SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.962 p.L321P 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 49 0 0 55 10 15.3846 FAT3 0 genome.wustl.edu 37 11 92543235 92543235 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 92543235 92543235 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.9474 p.P3158 0.096 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 38 0 0 36 6 14.2857 HEPHL1 0 genome.wustl.edu 37 11 93800808 93800808 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 93800808 93800808 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.955 p.R319W 1.000 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 181 0 0 112 23 17.037 SESN3 0 genome.wustl.edu 37 11 94924679 94924679 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 94924679 94924679 C A SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known missense c.231 p.Q77H 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 154 0 0 90 24 21.0526 AP2A2 0 genome.wustl.edu 37 11 994244 994244 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 994244 994244 T C SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1958 p.V653A 0.059 pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 121 0 0 84 15 15.1515 STAB2 0 genome.wustl.edu 37 12 104155148 104155148 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 104155148 104155148 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7319 p.H2440R 0.986 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 124 0 0 76 23 23.2323 HSP90B1 0 genome.wustl.edu 37 12 104335416 104335416 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 104335416 104335416 C T SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.1240 p.R414C 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 86 0 0 72 15 17.2414 NFYB 0 genome.wustl.edu 37 12 104519899 104519899 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 104519899 104519899 G A SNP NFYB ENST00000240055 human ensembl 74_37 -1 known missense c.224 p.T75M 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors NFYB HGNC ENSG00000120837 126 0 0 102 20 16.3934 FOXN4 0 genome.wustl.edu 37 12 109717586 109717586 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109717586 109717586 T C SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known missense c.1444 p.T482A 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 18 0 0 21 4 16 KCTD10 0 genome.wustl.edu 37 12 109889607 109889607 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109889607 109889607 G A SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known silent c.735 p.P245 0.027 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 27 0 0 33 10 23.2558 GLTP 0 genome.wustl.edu 37 12 110293504 110293504 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 110293504 110293504 G T SNP GLTP ENST00000318348 human ensembl 74_37 -1 known missense c.367 p.L123I 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTP HGNC ENSG00000139433 71 0 0 65 10 13.3333 VPS29 0 genome.wustl.edu 37 12 110929813 110929813 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 110929813 110929813 A T SNP VPS29 ENST00000549578 human ensembl 74_37 -1 known silent c.546 p.P182 0.112 NULL tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 40 0 0 40 8 16.6667 ALDH2 0 genome.wustl.edu 37 12 112229918 112229918 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 112229918 112229918 C A SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known silent c.849 p.T283 0.975 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 100 0 0 67 11 14.1026 HECTD4 0 genome.wustl.edu 37 12 112600935 112600935 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 112600935 112600935 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.12515 p.P4172L 0.998 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 167 0 0 138 10 6.75676 HECTD4 0 genome.wustl.edu 37 12 112654721 112654721 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 112654721 112654721 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.6725 p.P2242L 1.000 superfamily_ConA-like_lec_gl_sf pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 121 0 0 95 18 15.9292 RASAL1 0 genome.wustl.edu 37 12 113543654 113543654 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 113543654 113543654 C T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known silent c.1698 p.S566 0.050 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 179 0 0 106 28 20.8955 RASAL1 0 genome.wustl.edu 37 12 113565960 113565960 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 113565960 113565960 A T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.146 p.L49Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 361 0 0 319 49 13.3152 SDSL 0 genome.wustl.edu 37 12 113873175 113873175 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 113873175 113873175 T C SNP SDSL ENST00000345635 human ensembl 74_37 +1 known missense c.485 p.L162P 0.989 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 16 0 0 12 6 33.3333 TAOK3 0 genome.wustl.edu 37 12 118599792 118599792 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 118599792 118599792 G A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.1940 p.A647V 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 TAOK3 HGNC ENSG00000135090 86 0 0 102 6 5.55556 RHOF 0 genome.wustl.edu 37 12 122218895 122218895 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 122218895 122218895 C T SNP RHOF ENST00000267205 human ensembl 74_37 -1 known silent c.354 p.T118 0.020 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 57 0 0 33 3 8.33333 WDR66 0 genome.wustl.edu 37 12 122359307 122359307 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 122359307 122359307 A C SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.96 p.E32D 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 50 0 0 55 9 14.0625 HCAR2 0 genome.wustl.edu 37 12 123187303 123187303 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 123187303 123187303 C T SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known silent c.528 p.L176 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 92 0 0 72 20 21.7391 VPS37B 0 genome.wustl.edu 37 12 123355557 123355557 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 123355557 123355557 G T SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known missense c.163 p.L55M 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 111 0 0 75 19 20.2128 NCOR2 0 genome.wustl.edu 37 12 124950766 124950766 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 124950766 124950766 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.658 p.E220K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 195 0 0 104 37 26.2411 AACS 0 genome.wustl.edu 37 12 125621344 125621344 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 125621344 125621344 C T SNP AACS ENST00000316519 human ensembl 74_37 +1 known silent c.1815 p.D605 0.000 tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 117 0 0 72 12 14.2857 EP400 0 genome.wustl.edu 37 12 132547099 132547099 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 132547099 132547099 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8295 p.Q2765 0.987 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 99 0 0 63 7 10 POLE 0 genome.wustl.edu 37 12 133219579 133219579 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 133219579 133219579 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.4555 p.R1519C 0.987 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 25 0 0 18 6 25 ANKLE2 0 genome.wustl.edu 37 12 133304629 133304629 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 133304629 133304629 C T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.2604 p.S868 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 217 0 0 184 50 21.3675 PDE6H 0 genome.wustl.edu 37 12 15131004 15131004 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 15131004 15131004 C T SNP PDE6H ENST00000266395 human ensembl 74_37 +1 known missense c.58 p.R20C 1.000 pfam_PDE6_gamma,pirsf_PDE6_gamma pfam_PDE6_gamma,pirsf_PDE6_gamma - no_errors PDE6H HGNC ENSG00000139053 40 0 0 35 4 10.2564 PTPRO 0 genome.wustl.edu 37 12 15654731 15654731 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 15654731 15654731 C A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.839 p.S280Y 0.998 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 73 0 0 43 12 21.8182 ABCC9 0 genome.wustl.edu 37 12 22063140 22063140 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 22063140 22063140 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1271 p.L424P 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 152 1 0.653595 119 9 7.03125 ST8SIA1 0 genome.wustl.edu 37 12 22408309 22408309 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 22408309 22408309 C T SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known silent c.396 p.Q132 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 145 0 0 98 14 12.5 ST8SIA1 0 genome.wustl.edu 37 12 22487142 22487142 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 22487142 22487142 G A SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known nonsense c.25 p.R9* 0.679 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 112 0 0 68 20 22.7273 PPFIBP1 0 genome.wustl.edu 37 12 27840397 27840397 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 27840397 27840397 A G SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.2345 p.N782S 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 120 0 0 84 13 13.4021 RHNO1 0 genome.wustl.edu 37 12 2997144 2997144 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 2997144 2997144 C T SNP RHNO1 ENST00000489288 human ensembl 74_37 +1 known missense c.236 p.A79V 0.001 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 41 0 0 37 8 17.7778 CCND2 0 genome.wustl.edu 37 12 4409106 4409106 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 4409106 4409106 C T SNP CCND2 ENST00000261254 human ensembl 74_37 +1 known silent c.801 p.D267 0.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND2 HGNC ENSG00000118971 58 0 0 37 12 24.4898 DBX2 0 genome.wustl.edu 37 12 45444700 45444700 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 45444700 45444700 C G SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known missense c.11 p.S4T 0.967 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 13 0 0 3 3 50 PLEKHA8P1 0 genome.wustl.edu 37 12 45567322 45567322 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 45567322 45567322 G A SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.900 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 59 0 0 52 12 18.75 ENDOU 0 genome.wustl.edu 37 12 48104614 48104614 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 48104614 48104614 C T SNP ENDOU ENST00000229003 human ensembl 74_37 -1 known missense c.1081 p.A361T 1.000 NULL pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 133 0 0 76 31 28.972 RAPGEF3 0 genome.wustl.edu 37 12 48132503 48132503 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 48132503 48132503 T C SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known silent c.2496 p.L832 0.966 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 152 0 0 107 11 9.32203 CCNT1 0 genome.wustl.edu 37 12 49087282 49087282 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49087282 49087282 C T SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known missense c.1715 p.R572H 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 128 0 0 96 27 21.9512 KMT2D 0 genome.wustl.edu 37 12 49420109 49420109 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49420109 49420109 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15640 p.R5214C 1.000 pfam_FYrich_N,smart_FYrich_N 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 62 0 0 37 15 28.8462 KMT2D 0 genome.wustl.edu 37 12 49447831 49447831 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49447831 49447831 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.603 p.S201 0.987 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING 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 66 0 0 32 11 25.5814 FAM186B 0 genome.wustl.edu 37 12 49996976 49996976 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49996976 49996976 C T SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.497 p.R166K 0.010 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 65 0 0 44 13 22.807 GPD1 0 genome.wustl.edu 37 12 50501870 50501870 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 50501870 50501870 C T SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known missense c.910 p.R304W 0.914 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 33 0 0 18 6 25 SLC11A2 0 genome.wustl.edu 37 12 51402362 51402362 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 51402362 51402362 A G SNP SLC11A2 ENST00000394904 human ensembl 74_37 -1 known missense c.167 p.I56T 0.543 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A2 HGNC ENSG00000110911 89 0 0 72 11 13.253 KCNA5 0 genome.wustl.edu 37 12 5154747 5154747 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 5154747 5154747 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1434 p.M478I 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 167 0 0 103 18 14.876 GRASP 0 genome.wustl.edu 37 12 52404705 52404705 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 52404705 52404705 G A SNP GRASP ENST00000293662 human ensembl 74_37 +1 known missense c.337 p.G113S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 123 0 0 106 24 18.4615 KRT6A 0 genome.wustl.edu 37 12 52886929 52886929 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 52886929 52886929 C T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.44 p.R15H 0.009 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 72 0 0 56 9 13.8462 KRT74 0 genome.wustl.edu 37 12 52967153 52967153 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 52967153 52967153 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.409 p.R137C 0.553 NULL pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 164 0 0 125 36 22.3602 KRT79 0 genome.wustl.edu 37 12 53227696 53227696 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 53227696 53227696 C T SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.349 p.V117I 1.000 NULL pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 127 0 0 90 6 6.25 KRT18 0 genome.wustl.edu 37 12 53345404 53345404 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 53345404 53345404 A T SNP KRT18 ENST00000388835 human ensembl 74_37 +1 known missense c.797 p.E266V 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 54 0 0 54 6 10 ESPL1 0 genome.wustl.edu 37 12 53666523 53666523 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 53666523 53666523 T A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known nonsense c.1388 p.L463* 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 493 0 0 363 94 20.5689 SUOX 0 genome.wustl.edu 37 12 56397531 56397531 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56397531 56397531 G T SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.358 p.G120W 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 138 0 0 87 26 23.0088 ERBB3 0 genome.wustl.edu 37 12 56489493 56489493 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56489493 56489493 T A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1958 p.V653E 0.001 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 132 0 0 98 15 13.2743 ERBB3 0 genome.wustl.edu 37 12 56492321 56492321 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56492321 56492321 T C SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.2654 p.F885S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 113 0 0 81 6 6.89655 SLC39A5 0 genome.wustl.edu 37 12 56630405 56630405 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56630405 56630405 A G SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.1082 p.H361R 0.035 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 151 0 0 120 18 13.0435 MIP 0 genome.wustl.edu 37 12 56846858 56846858 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56846858 56846858 A G SNP MIP ENST00000257979 human ensembl 74_37 -1 known missense c.604 p.W202R 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 97 0 0 52 13 20 GLS2 0 genome.wustl.edu 37 12 56866478 56866478 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 56866478 56866478 G A SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known nonsense c.1507 p.R503* 0.999 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 131 0 0 67 24 26.3736 NACA 0 genome.wustl.edu 37 12 57113614 57113614 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57113614 57113614 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.1700 p.P567L 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 69 0 0 49 5 9.25926 STAT6 0 genome.wustl.edu 37 12 57493106 57493106 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57493106 57493106 T C SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known missense c.1862 p.K621R 1.000 smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 174 0 0 121 14 10.3704 STAT6 0 genome.wustl.edu 37 12 57493155 57493155 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57493155 57493155 G A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known nonsense c.1813 p.R605* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 148 0 0 78 19 19.5876 LRP1 0 genome.wustl.edu 37 12 57588842 57588842 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57588842 57588842 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.8266 p.S2756G 0.499 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 248 0 0 205 27 11.6379 LRP1 0 genome.wustl.edu 37 12 57589752 57589752 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57589752 57589752 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.8667 p.D2889 0.582 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 60 0 0 60 8 11.7647 LRP1 0 genome.wustl.edu 37 12 57592031 57592031 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57592031 57592031 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.9375 p.T3125 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 34 0 0 27 5 15.625 STAC3 0 genome.wustl.edu 37 12 57642910 57642910 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 57642910 57642910 T C SNP STAC3 ENST00000332782 human ensembl 74_37 -1 known missense c.248 p.K83R 1.000 prints_p67phox pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 90 0 0 66 11 14.2857 CYP27B1 0 genome.wustl.edu 37 12 58158323 58158323 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 58158323 58158323 G A SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.974 p.T325M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 155 0 0 131 24 15.4839 METTL21B 0 genome.wustl.edu 37 12 58174307 58174307 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 58174307 58174307 G A SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known missense c.559 p.G187R 0.903 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 52 0 0 18 9 33.3333 VWF 0 genome.wustl.edu 37 12 6204656 6204656 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 6204656 6204656 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.627 p.S209 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 227 0 0 142 33 18.8571 SRGAP1 0 genome.wustl.edu 37 12 64456870 64456870 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 64456870 64456870 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.975 p.A325 0.046 superfamily_Fuc/Ara_isomerase_C pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 96 0 0 61 14 18.6667 XPOT 0 genome.wustl.edu 37 12 64812690 64812690 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 64812690 64812690 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.305 p.R102Q 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 88 0 0 65 17 20.7317 B4GALNT3 0 genome.wustl.edu 37 12 662790 662790 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 662790 662790 G A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.1701 p.S567 0.009 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 91 0 0 65 4 5.7971 NUP107 0 genome.wustl.edu 37 12 69085796 69085796 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 69085796 69085796 C T SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.352 p.R118C 0.997 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 50 0 0 39 9 18.75 ATN1 0 genome.wustl.edu 37 12 7047777 7047777 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 7047777 7047777 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.2651 p.R884H 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 138 0 0 108 21 16.2791 ATN1 0 genome.wustl.edu 37 12 7050172 7050172 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 7050172 7050172 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.3344 p.R1115H 1.000 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 63 0 0 56 11 16.4179 TBC1D15 0 genome.wustl.edu 37 12 72278612 72278612 + Nonsense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 72278612 72278612 G T SNP TBC1D15 ENST00000472611 human ensembl 74_37 +1 known nonsense c.226 p.G76* 1.000 NULL pfam_DUF3548 - no_errors TBC1D15 HGNC ENSG00000121749 52 0 0 38 8 17.3913 NAV3 0 genome.wustl.edu 37 12 78571018 78571018 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 78571018 78571018 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5222 p.P1741L 1.000 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 186 0 0 103 25 19.5312 DPPA3 0 genome.wustl.edu 37 12 7867837 7867837 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 7867837 7867837 C T SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known silent c.141 p.N47 0.007 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 113 0 0 81 26 24.2991 ACSS3 0 genome.wustl.edu 37 12 81610701 81610701 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 81610701 81610701 C T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1376 p.A459V 0.995 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 74 0 0 51 10 16.3934 RIMKLB 0 genome.wustl.edu 37 12 8902524 8902524 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 8902524 8902524 C A SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.242 p.P81H 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 34 0 0 41 5 10.8696 PLXNC1 0 genome.wustl.edu 37 12 94543551 94543551 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 94543551 94543551 G A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.804 p.A268 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 28 0 0 14 4 22.2222 NR2C1 0 genome.wustl.edu 37 12 95422176 95422176 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 95422176 95422176 T C SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known silent c.1518 p.V506 0.934 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 50 0 0 34 4 10.5263 DAOA 0 genome.wustl.edu 37 13 106142384 106142384 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 106142384 106142384 A G SNP DAOA ENST00000375936 human ensembl 74_37 +1 known missense c.416 p.D139G 0.001 NULL NULL - no_errors DAOA HGNC ENSG00000182346 17 0 0 5 4 44.4444 EFNB2 0 genome.wustl.edu 37 13 107145763 107145763 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 107145763 107145763 G A SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known silent c.627 p.D209 0.991 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 107 0 0 78 5 6.0241 FAM155A 0 genome.wustl.edu 37 13 108518531 108518531 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 108518531 108518531 G A SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known silent c.414 p.G138 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 47 0 0 28 4 12.5 PROZ 0 genome.wustl.edu 37 13 113812994 113812994 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 113812994 113812994 T C SNP PROZ ENST00000375547 human ensembl 74_37 +1 known missense c.20 p.L7P 0.002 pirsf_Pept_S1A_FX pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 11 0 0 12 5 29.4118 ZMYM5 0 genome.wustl.edu 37 13 20412966 20412966 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 20412966 20412966 T C SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.746 p.K249R 0.989 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 296 0 0 215 28 11.5226 SACS 0 genome.wustl.edu 37 13 23928788 23928788 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 23928788 23928788 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.1963 p.L655F 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 121 0 0 93 16 14.6789 PARP4 0 genome.wustl.edu 37 13 25029208 25029208 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 25029208 25029208 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.2705 p.A902V 0.036 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 282 1 0.353357 175 42 19.3548 RNF6 0 genome.wustl.edu 37 13 26788260 26788260 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 26788260 26788260 G A SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1759 p.R587C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 153 0 0 112 37 24.8322 FRY 0 genome.wustl.edu 37 13 32823682 32823682 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 32823682 32823682 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.7028 p.R2343Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 58 0 0 40 5 11.1111 COG6 0 genome.wustl.edu 37 13 40268775 40268775 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 40268775 40268775 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.1079 p.R360Q 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 107 0 0 63 18 22.2222 CCDC122 0 genome.wustl.edu 37 13 44433981 44433981 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 44433981 44433981 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.382 p.Y128H 1.000 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 71 0 0 70 7 9.09091 SIAH3 0 genome.wustl.edu 37 13 46358089 46358089 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 46358089 46358089 T A SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known missense c.239 p.H80L 0.865 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 54 0 0 59 6 9.23077 LECT1 0 genome.wustl.edu 37 13 53286891 53286891 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 53286891 53286891 A G SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known silent c.582 p.G194 0.207 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 123 0 0 145 19 11.5854 PCDH17 0 genome.wustl.edu 37 13 58208729 58208729 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 58208729 58208729 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.2049 p.S683 0.593 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 155 0 0 98 23 19.0083 PCDH9 0 genome.wustl.edu 37 13 67800017 67800017 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 67800017 67800017 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2556 p.Q852H 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 147 0 0 123 22 15.1724 TBC1D4 0 genome.wustl.edu 37 13 75911143 75911143 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 75911143 75911143 T A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.1645 p.T549S 0.005 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 40 0 0 27 9 25 MYCBP2 0 genome.wustl.edu 37 13 77631192 77631192 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 77631192 77631192 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.13366 p.R4456W 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 156 0 0 127 24 15.894 SCEL 0 genome.wustl.edu 37 13 78202088 78202088 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 78202088 78202088 G T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.1635 p.Q545H 0.257 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 70 0 0 35 5 12.5 POU4F1 0 genome.wustl.edu 37 13 79175619 79175619 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 79175619 79175619 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.1191 p.N397 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU 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 POU4F1 HGNC ENSG00000152192 146 0 0 94 9 8.73786 EML1 0 genome.wustl.edu 37 14 100402386 100402386 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 100402386 100402386 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1987 p.G663C 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 97 0 0 73 5 6.41026 PPP2R5C 0 genome.wustl.edu 37 14 102391511 102391511 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 102391511 102391511 G A SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.1570 p.A524T 0.993 NULL pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 291 1 0.342466 225 62 21.6028 DYNC1H1 0 genome.wustl.edu 37 14 102516130 102516130 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 102516130 102516130 A C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.13595 p.N4532T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 63 0 0 55 11 16.6667 CDC42BPB 0 genome.wustl.edu 37 14 103447137 103447137 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 103447137 103447137 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.1113 p.D371 0.674 pfam_Pkinase_C,smart_AGC-kinase_C pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 78 0 0 64 13 16.8831 APOPT1 0 genome.wustl.edu 37 14 104056525 104056525 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 104056525 104056525 T C SNP APOPT1 ENST00000409074 human ensembl 74_37 +1 known missense c.523 p.Y175H 1.000 pfam_UPF0671 pfam_UPF0671 - no_errors APOPT1 HGNC ENSG00000256053 235 1 0.423729 200 20 9.09091 ASPG 0 genome.wustl.edu 37 14 104573194 104573194 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 104573194 104573194 C T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.1232 p.A411V 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 16 0 0 14 3 17.6471 AHNAK2 0 genome.wustl.edu 37 14 105406513 105406513 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 105406513 105406513 A G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.15275 p.V5092A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 159 0 0 96 25 20.6612 TMEM121 0 genome.wustl.edu 37 14 105995526 105995526 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 105995526 105995526 G C SNP TMEM121 ENST00000392519 human ensembl 74_37 +1 known missense c.355 p.V119L 0.974 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 14 0 0 9 4 30.7692 TEP1 0 genome.wustl.edu 37 14 20847140 20847140 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 20847140 20847140 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.5252 p.R1751Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 130 0 0 71 17 19.3182 ARHGEF40 0 genome.wustl.edu 37 14 21542367 21542367 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 21542367 21542367 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.478 p.G160S 0.571 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 68 0 0 39 11 22 METTL3 0 genome.wustl.edu 37 14 21966442 21966442 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 21966442 21966442 C A SNP METTL3 ENST00000298717 human ensembl 74_37 -1 known missense c.1703 p.R568M 1.000 pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL3 HGNC ENSG00000165819 100 0 0 83 10 10.7527 MMP14 0 genome.wustl.edu 37 14 23311827 23311827 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23311827 23311827 G A SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.589 p.G197S 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 94 0 0 73 18 19.7802 MMP14 0 genome.wustl.edu 37 14 23313912 23313912 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23313912 23313912 A G SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known silent c.1224 p.R408 0.988 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 120 1 0.826446 90 13 12.6214 PRMT5 0 genome.wustl.edu 37 14 23391719 23391719 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23391719 23391719 C A SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known missense c.1629 p.E543D 0.987 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 350 0 0 275 51 15.6442 PSMB11 0 genome.wustl.edu 37 14 23511754 23511754 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23511754 23511754 T C SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.320 p.V107A 0.978 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 103 0 0 104 11 9.56522 MYH7 0 genome.wustl.edu 37 14 23892782 23892782 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 23892782 23892782 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3073 p.V1025I 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 282 0 0 198 49 19.8381 RNF31 0 genome.wustl.edu 37 14 24624887 24624887 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 24624887 24624887 C T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2479 p.R827C 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 123 0 0 86 24 21.8182 SDR39U1 0 genome.wustl.edu 37 14 24910108 24910108 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 24910108 24910108 G A SNP SDR39U1 ENST00000399395 human ensembl 74_37 -1 known missense c.353 p.A118V 0.959 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 54 0 0 47 16 25.3968 HEATR5A 0 genome.wustl.edu 37 14 31763206 31763206 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 31763206 31763206 T G SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.5706 p.K1902N 0.949 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 26 0 0 10 5 33.3333 BAZ1A 0 genome.wustl.edu 37 14 35264883 35264883 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 35264883 35264883 T G SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.1217 p.D406A 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 83 0 0 47 7 12.963 SEC23A 0 genome.wustl.edu 37 14 39565321 39565321 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 39565321 39565321 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 79 0 0 52 12 18.75 LRFN5 0 genome.wustl.edu 37 14 42355861 42355861 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 42355861 42355861 T A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known silent c.33 p.I11 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 40 0 0 33 13 28.2609 ABHD12B 0 genome.wustl.edu 37 14 51368576 51368576 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 51368576 51368576 T C SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known silent c.810 p.R270 0.000 pfam_Peptidase_S9 pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 73 0 0 44 3 6.38298 PSMC6 0 genome.wustl.edu 37 14 53177883 53177883 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 53177883 53177883 T A SNP PSMC6 ENST00000445930 human ensembl 74_37 +1 known missense c.365 p.M122K 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 68 0 0 42 4 8.69565 OTX2 0 genome.wustl.edu 37 14 57268654 57268654 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 57268654 57268654 A G SNP OTX2 ENST00000339475 human ensembl 74_37 -1 known silent c.693 p.G231 1.000 pfam_Otx_TF_C pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 110 0 0 60 18 23.0769 SYNE2 0 genome.wustl.edu 37 14 64416693 64416693 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 64416693 64416693 C A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.559 p.L187I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 186 0 0 132 12 8.33333 ESR2 0 genome.wustl.edu 37 14 64727199 64727199 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 64727199 64727199 A G SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.920 p.V307A 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 260 0 0 201 42 17.284 HSPA2 0 genome.wustl.edu 37 14 65009431 65009431 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 65009431 65009431 A G SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.1864 p.S622G 0.863 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 47 0 0 28 9 24.3243 ATP6V1D 0 genome.wustl.edu 37 14 67815817 67815817 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 67815817 67815817 T C SNP ATP6V1D ENST00000216442 human ensembl 74_37 -1 known missense c.244 p.T82A 1.000 pfam_V_ATPase_D,tigrfam_V_ATPase_D pfam_V_ATPase_D,tigrfam_V_ATPase_D - no_errors ATP6V1D HGNC ENSG00000100554 49 0 0 41 3 6.81818 ARG2 0 genome.wustl.edu 37 14 68114795 68114795 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 68114795 68114795 A G SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known missense c.754 p.I252V 1.000 pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 40 0 0 21 9 30 ZFYVE26 0 genome.wustl.edu 37 14 68221792 68221792 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 68221792 68221792 T G SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.6962 p.K2321T 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 265 0 0 188 27 12.5581 SIPA1L1 0 genome.wustl.edu 37 14 72191386 72191386 + Splice_Site SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 72191386 72191386 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known splice_site c.4512-1 e16-1 1.000 - - - no_errors SIPA1L1 HGNC ENSG00000197555 55 0 0 45 12 21.0526 SIPA1L1 0 genome.wustl.edu 37 14 72205763 72205763 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 72205763 72205763 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.5300 p.A1767V 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 86 0 0 74 8 9.7561 RGS6 0 genome.wustl.edu 37 14 72936763 72936763 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 72936763 72936763 A G SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.508 p.I170V 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 84 0 0 59 12 16.9014 ACOT2 0 genome.wustl.edu 37 14 74041708 74041708 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 74041708 74041708 G A SNP ACOT2 ENST00000238651 human ensembl 74_37 +1 known missense c.943 p.V315I 0.008 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 70 0 0 47 23 32.8571 ELMSAN1 0 genome.wustl.edu 37 14 74194173 74194173 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 74194173 74194173 A G SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2150 p.V717A 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 94 0 0 62 7 10.1449 TSHR 0 genome.wustl.edu 37 14 81609785 81609785 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 81609785 81609785 C T SNP TSHR ENST00000298171 human ensembl 74_37 +1 known silent c.1383 p.F461 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 177 0 0 91 27 22.8814 GTF2A1 0 genome.wustl.edu 37 14 81659127 81659127 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 81659127 81659127 A G SNP GTF2A1 ENST00000553612 human ensembl 74_37 -1 known silent c.669 p.P223 0.961 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 253 0 0 201 23 10.2679 SEL1L 0 genome.wustl.edu 37 14 81954202 81954202 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 81954202 81954202 A G SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.1480 p.Y494H 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 46 0 0 40 3 6.97674 TTC7B 0 genome.wustl.edu 37 14 91247167 91247167 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 91247167 91247167 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known silent c.360 p.Y120 0.299 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 118 1 0.840336 90 21 18.9189 CCDC88C 0 genome.wustl.edu 37 14 91787503 91787503 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 91787503 91787503 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.1488 p.C496 0.738 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 25 0 0 16 6 27.2727 DDX24 0 genome.wustl.edu 37 14 94546087 94546087 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 94546087 94546087 A G SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 233 0 0 174 22 11.2245 PPP4R4 0 genome.wustl.edu 37 14 94718175 94718175 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 94718175 94718175 T G SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1807 p.C603G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 52 0 0 31 6 16.2162 SERPINA11 0 genome.wustl.edu 37 14 94914663 94914663 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 94914663 94914663 C T SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.449 p.R150Q 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 295 0 0 230 22 8.73016 DICER1 0 genome.wustl.edu 37 14 95569830 95569830 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 95569830 95569830 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known silent c.3903 p.L1301 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 98 0 0 62 12 16.2162 VRK1 0 genome.wustl.edu 37 14 97321591 97321591 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 97321591 97321591 C T SNP VRK1 ENST00000216639 human ensembl 74_37 +1 known missense c.607 p.R203W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK1 HGNC ENSG00000100749 108 0 0 79 18 18.5567 GABRB3 0 genome.wustl.edu 37 15 27017881 27017881 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 27017881 27017881 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.119 p.T40M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 30 0 0 12 7 36.8421 FAN1 0 genome.wustl.edu 37 15 31197927 31197927 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 31197927 31197927 G A SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.1061 p.S354N 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 138 0 0 95 17 15.1786 CHP1 0 genome.wustl.edu 37 15 41555004 41555004 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 41555004 41555004 G A SNP CHP1 ENST00000334660 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP1 HGNC ENSG00000187446 195 0 0 135 28 17.1779 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139594 42139594 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42139594 42139594 G A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2700 p.S900 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 258 0 0 174 41 19.0698 VPS39 0 genome.wustl.edu 37 15 42457942 42457942 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42457942 42457942 A T SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.1786 p.F596I 1.000 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 128 0 0 83 23 21.6981 GANC 0 genome.wustl.edu 37 15 42641675 42641675 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 42641675 42641675 C A SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.2513 p.S838Y 0.444 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 140 0 0 79 19 19.3878 ZSCAN29 0 genome.wustl.edu 37 15 43658906 43658906 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 43658906 43658906 G A SNP ZSCAN29 ENST00000566849 human ensembl 74_37 -1 known missense c.590 p.A197V 0.004 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 117 0 0 64 7 9.85915 MFAP1 0 genome.wustl.edu 37 15 44102107 44102107 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 44102107 44102107 T C SNP MFAP1 ENST00000267812 human ensembl 74_37 -1 known missense c.893 p.E298G 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 224 0 0 166 48 22.4299 SPG11 0 genome.wustl.edu 37 15 44858099 44858099 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 44858099 44858099 G A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.6952 p.R2318C 0.021 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 31 0 0 28 5 15.1515 SPG11 0 genome.wustl.edu 37 15 44876563 44876563 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 44876563 44876563 C T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.5315 p.R1772H 0.456 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 60 0 0 46 4 8 GATM 0 genome.wustl.edu 37 15 45668934 45668934 + Silent SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 45668934 45668934 T G SNP GATM ENST00000396659 human ensembl 74_37 -1 known silent c.153 p.A51 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 49 0 0 43 14 24.5614 AP4E1 0 genome.wustl.edu 37 15 51240349 51240349 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 51240349 51240349 G T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1309 p.A437S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,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 102 0 0 62 8 11.4286 TMOD3 0 genome.wustl.edu 37 15 52194104 52194104 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 52194104 52194104 A T SNP TMOD3 ENST00000308580 human ensembl 74_37 +1 known missense c.895 p.T299S 1.000 NULL pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 48 0 0 31 5 13.8889 ONECUT1 0 genome.wustl.edu 37 15 53082076 53082076 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 53082076 53082076 G A SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known silent c.6 p.N2 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 41 0 0 30 10 25 WDR72 0 genome.wustl.edu 37 15 53997240 53997240 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 53997240 53997240 G T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.1293 p.T431 0.819 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 123 0 0 100 7 6.54206 TLN2 0 genome.wustl.edu 37 15 62945497 62945497 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 62945497 62945497 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.501 p.L167 0.040 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 43 0 0 34 4 10.5263 SNX1 0 genome.wustl.edu 37 15 64419432 64419432 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 64419432 64419432 C T SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.712 p.R238W 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 42 0 0 20 5 20 CLPX 0 genome.wustl.edu 37 15 65447360 65447360 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 65447360 65447360 T C SNP CLPX ENST00000300107 human ensembl 74_37 -1 known silent c.1371 p.A457 0.584 pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,tigrfam_Clp_protease_ATP-bd_su_ClpX pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 70 0 0 48 7 12.7273 CLPX 0 genome.wustl.edu 37 15 65458981 65458981 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 65458981 65458981 A G SNP CLPX ENST00000300107 human ensembl 74_37 -1 known silent c.501 p.P167 0.998 superfamily_P-loop_NTPase pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 241 0 0 158 55 25.8216 MEGF11 0 genome.wustl.edu 37 15 66191139 66191139 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 66191139 66191139 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.2901 p.S967 0.291 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 96 0 0 94 14 12.963 IQCH 0 genome.wustl.edu 37 15 67665746 67665746 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 67665746 67665746 G T SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.1347 p.R449S 1.000 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 78 0 0 61 8 11.5942 ULK3 0 genome.wustl.edu 37 15 75131055 75131055 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 75131055 75131055 A G SNP ULK3 ENST00000440863 human ensembl 74_37 -1 known missense c.1031 p.L344P 1.000 pfam_MIT,smart_MIT pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom - no_errors ULK3 HGNC ENSG00000140474 18 0 0 14 6 30 MAN2C1 0 genome.wustl.edu 37 15 75648256 75648256 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 75648256 75648256 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.3114 p.P1038 0.063 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 48 0 0 39 10 20.4082 SNX33 0 genome.wustl.edu 37 15 75942629 75942629 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 75942629 75942629 A G SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.1186 p.S396G 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 61 0 0 31 14 31.1111 RCN2 0 genome.wustl.edu 37 15 77236173 77236173 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 77236173 77236173 T C SNP RCN2 ENST00000394885 human ensembl 74_37 +1 known silent c.522 p.F174 0.998 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN2 HGNC ENSG00000117906 49 0 0 47 12 20.339 PEAK1 0 genome.wustl.edu 37 15 77471152 77471152 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 77471152 77471152 C A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.3117 p.Q1039H 0.035 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 60 0 0 32 10 23.8095 IREB2 0 genome.wustl.edu 37 15 78768646 78768646 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 78768646 78768646 T C SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known silent c.1140 p.A380 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 46 0 0 25 9 26.4706 ADAMTS7 0 genome.wustl.edu 37 15 79059229 79059229 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 79059229 79059229 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.3024 p.S1008 0.908 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 54 0 0 37 4 9.7561 BNC1 0 genome.wustl.edu 37 15 83932799 83932799 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 83932799 83932799 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1204 p.R402W 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 161 0 0 100 26 20.6349 PDE8A 0 genome.wustl.edu 37 15 85652349 85652349 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 85652349 85652349 C T SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.1102 p.R368C 0.135 NULL pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 54 0 0 49 10 16.9492 AKAP13 0 genome.wustl.edu 37 15 86124320 86124320 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 86124320 86124320 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.3021 p.L1007 0.014 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 72 0 0 74 15 16.8539 AKAP13 0 genome.wustl.edu 37 15 86284609 86284609 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 86284609 86284609 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.7953 p.Y2651 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 54 0 0 30 9 23.0769 KLHL25 0 genome.wustl.edu 37 15 86312183 86312183 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 86312183 86312183 A C SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.859 p.C287G 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 85 0 0 61 20 24.6914 TTLL13 0 genome.wustl.edu 37 15 90802111 90802111 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 90802111 90802111 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.1304 p.R435Q 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 113 0 0 77 13 14.4444 ZNF774 0 genome.wustl.edu 37 15 90903714 90903714 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 90903714 90903714 C T SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known silent c.651 p.S217 0.221 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 68 0 0 74 14 15.9091 CRTC3 0 genome.wustl.edu 37 15 91169093 91169093 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 91169093 91169093 A T SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known missense c.835 p.N279Y 1.000 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 502 0 0 372 86 18.7773 SV2B 0 genome.wustl.edu 37 15 91811773 91811773 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 91811773 91811773 C T SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.1311 p.G437 0.798 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 128 0 0 100 10 9.09091 IGF1R 0 genome.wustl.edu 37 15 99491899 99491899 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 99491899 99491899 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3684 p.G1228 0.057 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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 IGF1R HGNC ENSG00000140443 172 0 0 149 11 6.875 SYNM 0 genome.wustl.edu 37 15 99673025 99673025 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 99673025 99673025 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.4457 p.R1486H 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 199 0 0 156 31 16.5775 RHBDF1 0 genome.wustl.edu 37 16 111433 111433 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 111433 111433 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.1345 p.E449K 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 36 0 0 33 6 15.3846 SNX29 0 genome.wustl.edu 37 16 12162925 12162925 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 12162925 12162925 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.100 p.G34R 0.209 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 131 0 0 95 10 9.52381 UNKL 0 genome.wustl.edu 37 16 1416381 1416381 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 1416381 1416381 G A SNP UNKL ENST00000389221 human ensembl 74_37 -1 known missense c.1903 p.R635C 0.060 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 23 0 0 20 3 13.0435 UNKL 0 genome.wustl.edu 37 16 1451628 1451628 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 1451628 1451628 C A SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.800 p.G267V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 29 0 0 18 5 21.7391 FOPNL 0 genome.wustl.edu 37 16 15978017 15978017 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 15978017 15978017 T G SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known missense c.74 p.K25T 1.000 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 65 0 0 57 10 14.9254 IFT140 0 genome.wustl.edu 37 16 1652483 1652483 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 1652483 1652483 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.257 p.T86M 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 67 0 0 59 16 21.3333 GPRC5B 0 genome.wustl.edu 37 16 19883185 19883185 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 19883185 19883185 C T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.1061 p.R354Q 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 145 0 0 122 26 17.5676 HBZ 0 genome.wustl.edu 37 16 202930 202930 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 202930 202930 A G SNP HBZ ENST00000252951 human ensembl 74_37 +1 known missense c.22 p.R8G 0.995 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_zeta,prints_Haemoglobin_pi,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a,prints_Haemoglobin_zeta,prints_Haemoglobin_pi,prints_Myoglobin - no_errors HBZ HGNC ENSG00000130656 58 0 0 50 7 12.2807 DNAH3 0 genome.wustl.edu 37 16 20975852 20975852 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 20975852 20975852 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.9354 p.A3118 0.040 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 224 0 0 155 33 17.5532 TSC2 0 genome.wustl.edu 37 16 2120492 2120492 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2120492 2120492 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.1752 p.T584 0.000 pfam_Tuberin-type_domain,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 81 0 0 60 13 17.8082 CRYM 0 genome.wustl.edu 37 16 21273443 21273443 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 21273443 21273443 T C SNP CRYM ENST00000219599 human ensembl 74_37 -1 known missense c.710 p.D237G 1.000 pfam_ODC_Mu_crystall pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd - no_errors CRYM HGNC ENSG00000103316 77 0 0 50 8 13.7931 IGSF6 0 genome.wustl.edu 37 16 21655611 21655611 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 21655611 21655611 T G SNP IGSF6 ENST00000268389 human ensembl 74_37 -1 known missense c.534 p.K178N 0.917 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF6 HGNC ENSG00000140749 86 0 0 90 8 8.16327 POLR3E 0 genome.wustl.edu 37 16 22320326 22320326 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 22320326 22320326 C T SNP POLR3E ENST00000564750 human ensembl 74_37 +1 known missense c.196 p.R66W 0.328 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 96 0 0 97 10 9.34579 MLST8 0 genome.wustl.edu 37 16 2257280 2257280 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2257280 2257280 C T SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known silent c.507 p.P169 0.013 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 217 0 0 158 24 13.1868 LOC653786 0 genome.wustl.edu 37 16 22587939 22587939 + RNA SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 22587939 22587939 T C SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 108 0 0 89 8 8.24742 BRICD5 0 genome.wustl.edu 37 16 2259686 2259686 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2259686 2259686 T A SNP BRICD5 ENST00000562360 human ensembl 74_37 -1 known missense c.460 p.S154C 0.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 193 0 0 170 10 5.55556 ABCA3 0 genome.wustl.edu 37 16 2367744 2367744 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2367744 2367744 G T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.895 p.L299I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 74 0 0 59 21 26.25 AMDHD2 0 genome.wustl.edu 37 16 2580411 2580411 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2580411 2580411 G A SNP AMDHD2 ENST00000413459 human ensembl 74_37 +1 known missense c.1436 p.R479K 0.000 NULL pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 53 0 0 36 9 20 IL4R 0 genome.wustl.edu 37 16 27363879 27363879 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 27363879 27363879 A G SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.532 p.T178A 0.989 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 121 0 0 89 23 20.5357 GTF3C1 0 genome.wustl.edu 37 16 27506203 27506203 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 27506203 27506203 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.2659 p.R887C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 56 0 0 40 9 18.3673 SRRM2 0 genome.wustl.edu 37 16 2814058 2814058 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2814058 2814058 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.3529 p.T1177A 0.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 172 0 0 128 12 8.57143 SRRM2 0 genome.wustl.edu 37 16 2814676 2814676 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2814676 2814676 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.4147 p.S1383G 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 398 0 0 311 31 9.06433 SULT1A2 0 genome.wustl.edu 37 16 28603750 28603750 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 28603750 28603750 C A SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known missense c.609 p.E203D 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 82 0 0 63 7 10 FLYWCH2 0 genome.wustl.edu 37 16 2949098 2949098 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2949098 2949098 C T SNP FLYWCH2 ENST00000293981 human ensembl 74_37 +1 known missense c.371 p.A124V 0.000 NULL NULL - no_errors FLYWCH2 HGNC ENSG00000162076 64 0 0 41 6 12.766 FLYWCH1 0 genome.wustl.edu 37 16 2983494 2983494 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2983494 2983494 G A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.1160 p.R387Q 0.000 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 29 0 0 17 8 32 ALDOA 0 genome.wustl.edu 37 16 30081398 30081398 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30081398 30081398 G A SNP ALDOA ENST00000569798 human ensembl 74_37 +1 novel silent c.1047 p.S349 0.000 NULL pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 64 0 0 39 11 22 PKMYT1 0 genome.wustl.edu 37 16 3024104 3024104 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3024104 3024104 A C SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known missense c.1207 p.W403G 1.000 pirsf_Tyr/Thr_kinase_Cdc2_inhib 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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 21 0 0 14 3 17.6471 PRR14 0 genome.wustl.edu 37 16 30666199 30666199 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30666199 30666199 T A SNP PRR14 ENST00000300835 human ensembl 74_37 +1 known missense c.908 p.V303D 0.997 NULL NULL - no_errors PRR14 HGNC ENSG00000156858 91 0 0 97 8 7.61905 SRCAP 0 genome.wustl.edu 37 16 30749490 30749490 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30749490 30749490 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.8129 p.S2710L 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 79 0 0 58 18 23.6842 ZNF629 0 genome.wustl.edu 37 16 30793803 30793803 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 30793803 30793803 A G SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.1846 p.S616P 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 9 0 0 7 3 30 TRIM72 0 genome.wustl.edu 37 16 31235649 31235649 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 31235649 31235649 C T SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.1007 p.A336V 0.753 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 25 0 0 21 3 12.5 ZNF213 0 genome.wustl.edu 37 16 3191181 3191181 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3191181 3191181 G A SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.1213 p.D405N 0.081 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 91 0 0 51 20 28.169 PDIA2 0 genome.wustl.edu 37 16 335160 335160 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 335160 335160 T G SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known missense c.755 p.V252G 0.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 73 0 0 42 14 25 TRAP1 0 genome.wustl.edu 37 16 3715978 3715978 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3715978 3715978 C A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1377 p.E459D 0.993 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 49 0 0 39 3 7.14286 CREBBP 0 genome.wustl.edu 37 16 3779497 3779497 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3779497 3779497 G T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.5551 p.R1851S 1.000 NULL 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 CREBBP HGNC ENSG00000005339 181 0 0 112 11 8.94309 ADCY9 0 genome.wustl.edu 37 16 4163993 4163993 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 4163993 4163993 A G SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.1451 p.V484A 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 192 0 0 147 44 23.0366 TFAP4 0 genome.wustl.edu 37 16 4311902 4311902 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 4311902 4311902 C T SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.403 p.E135K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 21 0 0 20 4 16.6667 DNAJA3 0 genome.wustl.edu 37 16 4504854 4504854 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 4504854 4504854 G A SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known missense c.1382 p.R461H 0.492 NULL pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 45 0 0 33 8 19.5122 DECR2 0 genome.wustl.edu 37 16 457459 457459 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 457459 457459 G A SNP DECR2 ENST00000219481 human ensembl 74_37 +1 known missense c.236 p.R79H 0.686 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 83 0 0 54 8 12.9032 SHCBP1 0 genome.wustl.edu 37 16 46638005 46638005 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 46638005 46638005 C T SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known missense c.974 p.R325H 0.208 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 124 0 0 82 27 24.7706 C16orf78 0 genome.wustl.edu 37 16 49430375 49430375 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 49430375 49430375 C T SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.436 p.R146W 0.029 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 89 0 0 55 10 15.3846 ZNF423 0 genome.wustl.edu 37 16 49672395 49672395 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 49672395 49672395 T C SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.668 p.K223R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 72 0 0 43 11 20.3704 NOD2 0 genome.wustl.edu 37 16 50733771 50733771 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 50733771 50733771 T C SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.446 p.V149A 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 87 0 0 81 6 6.89655 RAB11FIP3 0 genome.wustl.edu 37 16 511424 511424 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 511424 511424 C T SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known silent c.735 p.Y245 0.998 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 217 0 0 148 35 19.1257 CES1 0 genome.wustl.edu 37 16 55857537 55857537 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 55857537 55857537 C A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.464 p.G155V 0.996 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 103 0 0 88 8 8.33333 CIAPIN1 0 genome.wustl.edu 37 16 57470614 57470614 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 57470614 57470614 T C SNP CIAPIN1 ENST00000394391 human ensembl 74_37 -1 known missense c.341 p.K114R 1.000 NULL pfam_Anamorsin - no_errors CIAPIN1 HGNC ENSG00000005194 60 0 0 47 15 24.1935 KATNB1 0 genome.wustl.edu 37 16 57790353 57790353 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 57790353 57790353 T C SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1804 p.S602P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 181 0 0 155 15 8.82353 CNOT1 0 genome.wustl.edu 37 16 58562480 58562480 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 58562480 58562480 A T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.6352 p.C2118S 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 108 0 0 59 16 21.3333 CNOT1 0 genome.wustl.edu 37 16 58592417 58592417 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 58592417 58592417 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.2292 p.T764 0.823 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 42 0 0 31 6 16.2162 CDH8 0 genome.wustl.edu 37 16 61891051 61891051 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 61891051 61891051 C A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.639 p.Q213H 1.000 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 CDH8 HGNC ENSG00000150394 102 0 0 83 19 18.6275 PIGQ 0 genome.wustl.edu 37 16 633170 633170 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 633170 633170 T C SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.1819 p.C607R 0.007 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 292 0 0 225 24 9.63855 CDH5 0 genome.wustl.edu 37 16 66420974 66420974 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 66420974 66420974 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.473 p.A158V 0.864 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 50 0 0 25 5 16.6667 AGRP 0 genome.wustl.edu 37 16 67516576 67516576 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67516576 67516576 T C SNP AGRP ENST00000290953 human ensembl 74_37 -1 known missense c.362 p.K121R 1.000 pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors AGRP HGNC ENSG00000159723 113 0 0 88 15 14.5631 ENKD1 0 genome.wustl.edu 37 16 67699032 67699032 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67699032 67699032 C A SNP ENKD1 ENST00000243878 human ensembl 74_37 -1 known missense c.320 p.R107L 1.000 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 405 0 0 285 54 15.9292 TSNAXIP1 0 genome.wustl.edu 37 16 67859964 67859964 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67859964 67859964 T C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.967 p.W323R 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 91 0 0 62 5 7.46269 CENPT 0 genome.wustl.edu 37 16 67865164 67865164 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67865164 67865164 C T SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.658 p.G220S 0.361 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 149 0 0 117 20 14.5985 EDC4 0 genome.wustl.edu 37 16 67912921 67912921 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67912921 67912921 T A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.1349 p.I450N 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 68 0 0 56 17 23.2877 SLC12A4 0 genome.wustl.edu 37 16 67984390 67984390 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 67984390 67984390 G A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.1467 p.G489 0.007 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 67 0 0 38 12 24 CDH1 0 genome.wustl.edu 37 16 68845667 68845667 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 68845667 68845667 C A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.913 p.L305I 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 85 0 0 71 10 12.3457 WDR90 0 genome.wustl.edu 37 16 703538 703538 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 703538 703538 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.1247 p.A416V 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 151 0 0 106 30 22.0588 PSMD7 0 genome.wustl.edu 37 16 74339455 74339455 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 74339455 74339455 C T SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known missense c.799 p.R267C 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 92 0 0 59 10 14.4928 CHST6 0 genome.wustl.edu 37 16 75513474 75513474 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 75513474 75513474 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.253 p.A85T 0.857 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 77 0 0 51 12 19.0476 CNTNAP4 0 genome.wustl.edu 37 16 76389240 76389240 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 76389240 76389240 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.219 p.V73 0.735 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 49 0 0 45 6 11.7647 ADAMTS18 0 genome.wustl.edu 37 16 77353960 77353960 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 77353960 77353960 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2318 p.G773D 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 101 0 0 69 13 15.8537 WWOX 0 genome.wustl.edu 37 16 78143722 78143722 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 78143722 78143722 T G SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.220 p.F74V 0.998 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 102 0 0 69 10 12.6582 NARFL 0 genome.wustl.edu 37 16 783400 783400 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 783400 783400 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known missense c.721 p.V241I 0.999 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 87 0 0 73 9 10.9756 BCMO1 0 genome.wustl.edu 37 16 81293328 81293328 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 81293328 81293328 A G SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.241 p.T81A 0.127 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 92 0 0 64 8 11.1111 MSLN 0 genome.wustl.edu 37 16 816088 816088 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 816088 816088 C T SNP MSLN ENST00000382862 human ensembl 74_37 +1 known missense c.925 p.R309C 0.000 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 29 0 0 30 4 11.7647 CMIP 0 genome.wustl.edu 37 16 81740617 81740617 + Splice_Site SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 81740617 81740617 A T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known splice_site c.2198-2 e20-2 1.000 - - - no_errors CMIP HGNC ENSG00000153815 305 0 0 233 14 5.66802 PLCG2 0 genome.wustl.edu 37 16 81990400 81990400 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 81990400 81990400 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.3671 p.R1224H 0.998 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 142 0 0 107 10 8.54701 KLHL36 0 genome.wustl.edu 37 16 84695317 84695317 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 84695317 84695317 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.1429 p.R477W 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 110 0 0 89 25 21.9298 JPH3 0 genome.wustl.edu 37 16 87730193 87730193 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 87730193 87730193 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.2174 p.A725V 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 166 0 0 137 14 9.27152 IL17C 0 genome.wustl.edu 37 16 88705624 88705624 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 88705624 88705624 G T SNP IL17C ENST00000244241 human ensembl 74_37 +1 known missense c.242 p.R81M 0.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17C HGNC ENSG00000124391 93 0 0 53 15 22.0588 GALNS 0 genome.wustl.edu 37 16 88891252 88891252 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 88891252 88891252 T C SNP GALNS ENST00000268695 human ensembl 74_37 -1 known missense c.1165 p.T389A 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 79 0 0 52 20 27.7778 ANKRD11 0 genome.wustl.edu 37 16 89348343 89348343 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89348343 89348343 T C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4607 p.D1536G 0.947 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 115 0 0 88 19 17.757 ANKRD11 0 genome.wustl.edu 37 16 89348687 89348687 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89348687 89348687 T A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4263 p.E1421D 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 130 0 0 103 21 16.9355 ANKRD11 0 genome.wustl.edu 37 16 89350985 89350985 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89350985 89350985 T A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.1965 p.K655N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 201 0 0 170 10 5.55556 ANKRD11 0 genome.wustl.edu 37 16 89351279 89351279 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 89351279 89351279 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.1671 p.P557 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 84 0 0 48 16 25 MYH8 0 genome.wustl.edu 37 17 10296257 10296257 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 10296257 10296257 A G SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.5354 p.M1785T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 235 0 0 180 22 10.8911 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 104 0 0 73 36 33.0275 TRPV2 0 genome.wustl.edu 37 17 16323473 16323473 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 16323473 16323473 C T SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.245 p.A82V 0.001 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 133 0 0 109 17 13.4921 SREBF1 0 genome.wustl.edu 37 17 17719529 17719529 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 17719529 17719529 A T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.2296 p.F766I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 24 0 0 16 4 20 PRPSAP2 0 genome.wustl.edu 37 17 18814472 18814472 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 18814472 18814472 C T SNP PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 93 0 0 56 17 23.2877 SMG6 0 genome.wustl.edu 37 17 2202995 2202995 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 2202995 2202995 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.1052 p.R351H 0.989 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 144 0 0 97 8 7.61905 MNT 0 genome.wustl.edu 37 17 2290871 2290871 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 2290871 2290871 C T SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.1073 p.R358H 0.859 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 436 0 0 297 61 17.0391 SLC13A2 0 genome.wustl.edu 37 17 26820745 26820745 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 26820745 26820745 C A SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known silent c.1182 p.T394 0.615 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 111 0 0 77 30 28.0374 KIAA0100 0 genome.wustl.edu 37 17 26969888 26969888 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 26969888 26969888 T C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.514 p.R172G 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 88 0 0 77 6 7.22892 SUPT6H 0 genome.wustl.edu 37 17 27022421 27022421 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 27022421 27022421 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.3826 p.S1276G 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom 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 52 0 0 59 6 9.23077 FLOT2 0 genome.wustl.edu 37 17 27210148 27210148 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 27210148 27210148 C A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.324 p.E108D 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 129 0 0 87 12 12.1212 LRRC37B 0 genome.wustl.edu 37 17 30349562 30349562 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 30349562 30349562 C T SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.1397 p.A466V 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 151 0 0 112 27 19.4245 RHBDL3 0 genome.wustl.edu 37 17 30594937 30594937 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 30594937 30594937 T G SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known missense c.128 p.F43C 1.000 pfscan_EF_hand_dom pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 406 0 0 340 47 12.1447 LIG3 0 genome.wustl.edu 37 17 33323127 33323127 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33323127 33323127 C T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known silent c.1656 p.G552 1.000 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 72 0 0 42 11 20.7547 UNC45B 0 genome.wustl.edu 37 17 33495121 33495121 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33495121 33495121 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.1193 p.A398V 1.000 pfam_UNC-45/Ring3,superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 58 0 0 39 8 17.0213 SLFN5 0 genome.wustl.edu 37 17 33586620 33586620 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33586620 33586620 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.911 p.A304V 0.298 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 193 0 0 145 22 13.1737 GPR179 0 genome.wustl.edu 37 17 36499264 36499264 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 36499264 36499264 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.409 p.V137M 0.008 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 94 0 0 83 10 10.7527 ERBB2 0 genome.wustl.edu 37 17 37879601 37879601 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 37879601 37879601 T A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1976 p.V659D 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 179 0 0 182 17 8.54271 ERBB2 0 genome.wustl.edu 37 17 37881392 37881392 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 37881392 37881392 A G SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2584 p.T862A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 94 0 0 107 7 6.14035 ERBB2 0 genome.wustl.edu 37 17 37883212 37883212 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 37883212 37883212 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.3115 p.A1039T 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 187 0 0 179 12 6.28272 ATP2A3 0 genome.wustl.edu 37 17 3840765 3840765 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 3840765 3840765 T A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.2266 p.N756Y 1.000 prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 49 0 0 52 3 5.45455 TNS4 0 genome.wustl.edu 37 17 38652551 38652551 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 38652551 38652551 A C SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.127 p.Y43D 1.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 97 0 0 94 5 5.05051 KRT222 0 genome.wustl.edu 37 17 38818255 38818255 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 38818255 38818255 C A SNP KRT222 ENST00000394052 human ensembl 74_37 -1 known missense c.138 p.E46D 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 184 0 0 144 34 19.1011 KRT12 0 genome.wustl.edu 37 17 39019472 39019472 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 39019472 39019472 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.1219 p.R407C 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 50 0 0 27 12 30.7692 KRT40 0 genome.wustl.edu 37 17 39134454 39134454 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 39134454 39134454 A C SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known missense c.1291 p.L431V 0.001 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 102 0 0 68 25 26.8817 KRT40 0 genome.wustl.edu 37 17 39140442 39140442 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 39140442 39140442 G A SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.84 p.S28 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 40 0 0 30 5 14.2857 ZZEF1 0 genome.wustl.edu 37 17 3968022 3968022 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 3968022 3968022 T A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4351 p.S1451C 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 137 0 0 116 13 10.0775 KCNH4 0 genome.wustl.edu 37 17 40332934 40332934 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40332934 40332934 C T SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.30 p.P10 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,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_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 213 0 0 168 40 19.2308 PTRF 0 genome.wustl.edu 37 17 40557269 40557269 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40557269 40557269 C T SNP PTRF ENST00000357037 human ensembl 74_37 -1 known silent c.609 p.S203 0.006 NULL NULL - no_errors PTRF HGNC ENSG00000177469 259 0 0 203 44 17.8138 ETV4 0 genome.wustl.edu 37 17 41606991 41606991 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 41606991 41606991 G A SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known missense c.1009 p.R337C 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 172 0 0 119 42 26.087 HEXIM1 0 genome.wustl.edu 37 17 43227536 43227536 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 43227536 43227536 C T SNP HEXIM1 ENST00000332499 human ensembl 74_37 +1 known silent c.979 p.L327 1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 182 0 0 125 29 18.8312 LRRC46 0 genome.wustl.edu 37 17 45913838 45913838 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 45913838 45913838 C T SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known nonsense c.592 p.R198* 0.642 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 65 0 0 41 22 34.9206 NFE2L1 0 genome.wustl.edu 37 17 46128992 46128992 + Splice_Site SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 46128992 46128992 T G SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known splice_site c.510+2 e1+2 1.000 - - - no_errors NFE2L1 HGNC ENSG00000082641 118 0 0 82 26 24.0741 PLD2 0 genome.wustl.edu 37 17 4721858 4721858 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 4721858 4721858 G T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known silent c.2079 p.T693 0.997 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 139 0 0 112 16 12.5 ITGA3 0 genome.wustl.edu 37 17 48166586 48166586 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48166586 48166586 A C SNP ITGA3 ENST00000007722 human ensembl 74_37 +1 novel missense c.3158 p.K1053T 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 167 0 0 133 34 20.3593 CACNA1G 0 genome.wustl.edu 37 17 48646247 48646247 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48646247 48646247 A G SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.259 p.S87G 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 63 0 0 47 4 7.84314 CACNA1G 0 genome.wustl.edu 37 17 48683419 48683419 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48683419 48683419 A G SNP CACNA1G ENST00000416767 human ensembl 74_37 +1 putative missense c.4457 p.K1486R 0.001 NULL pfam_Ion_trans_dom,prints_VDCC_T_a1su - no_errors CACNA1G HGNC ENSG00000006283 133 0 0 102 13 11.3043 ABCC3 0 genome.wustl.edu 37 17 48742573 48742573 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48742573 48742573 C T SNP ABCC3 ENST00000502426 human ensembl 74_37 +1 known missense c.1453 p.R485W 0.992 NULL NULL - no_errors ABCC3 HGNC ENSG00000108846 85 0 0 72 14 16.2791 ANKRD40 0 genome.wustl.edu 37 17 48778049 48778049 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48778049 48778049 T C SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known missense c.163 p.N55D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 - no_errors ANKRD40 HGNC ENSG00000154945 94 0 0 76 13 14.6067 WFIKKN2 0 genome.wustl.edu 37 17 48917696 48917696 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 48917696 48917696 G T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.1047 p.Q349H 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 98 0 0 104 8 7.14286 STXBP4 0 genome.wustl.edu 37 17 53155491 53155491 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 53155491 53155491 G A SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known missense c.1241 p.R414Q 1.000 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 89 0 0 64 5 7.24638 TRIM25 0 genome.wustl.edu 37 17 54981616 54981616 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 54981616 54981616 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known silent c.927 p.E309 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 148 0 0 163 14 7.9096 MRPS23 0 genome.wustl.edu 37 17 55917298 55917298 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 55917298 55917298 T C SNP MRPS23 ENST00000313608 human ensembl 74_37 -1 known splice_site c.421-2 e5-2 0.698 - - - no_errors MRPS23 HGNC ENSG00000181610 87 0 0 58 17 22.6667 C17orf82 0 genome.wustl.edu 37 17 59489855 59489855 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 59489855 59489855 A T SNP C17orf82 ENST00000335108 human ensembl 74_37 +1 known missense c.519 p.E173D 0.003 NULL NULL - no_errors C17orf82 HGNC ENSG00000187013 11 0 0 10 3 23.0769 MRC2 0 genome.wustl.edu 37 17 60742222 60742222 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 60742222 60742222 T C SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.432 p.P144 0.282 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 88 0 0 80 9 10.1124 GNA13 0 genome.wustl.edu 37 17 63010659 63010659 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 63010659 63010659 C T SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.850 p.V284I 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_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_12 - no_errors GNA13 HGNC ENSG00000120063 133 0 0 106 21 16.5354 AXIN2 0 genome.wustl.edu 37 17 63533583 63533583 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 63533583 63533583 A T SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.1571 p.V524D 0.081 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 157 0 0 94 21 18.2609 HELZ 0 genome.wustl.edu 37 17 65184691 65184691 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 65184691 65184691 A C SNP HELZ ENST00000358691 human ensembl 74_37 -1 known silent c.906 p.A302 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 192 0 0 144 8 5.26316 ALOX12 0 genome.wustl.edu 37 17 6903748 6903748 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 6903748 6903748 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.901 p.V301I 0.307 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 173 0 0 108 30 21.7391 ASGR1 0 genome.wustl.edu 37 17 7077305 7077305 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7077305 7077305 C T SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known missense c.676 p.G226R 0.998 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 129 0 0 86 22 20.3704 C17orf80 0 genome.wustl.edu 37 17 71232449 71232449 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 71232449 71232449 A T SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known missense c.828 p.E276D 0.004 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 52 0 0 44 7 13.7255 ACADVL 0 genome.wustl.edu 37 17 7123931 7123931 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7123931 7123931 G T SNP ACADVL ENST00000356839 human ensembl 74_37 +1 known missense c.213 p.K71N 1.000 NULL pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 166 0 0 115 14 10.8527 SDK2 0 genome.wustl.edu 37 17 71418542 71418542 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 71418542 71418542 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.1929 p.V643 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 187 0 0 152 25 14.1243 GPRC5C 0 genome.wustl.edu 37 17 72440035 72440035 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 72440035 72440035 T C SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.1265 p.L422P 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 65 0 0 71 7 8.97436 TMEM256-PLSCR3 0 genome.wustl.edu 37 17 7296656 7296656 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7296656 7296656 C T SNP TMEM256-PLSCR3 ENST00000324822 human ensembl 74_37 -1 known missense c.314 p.R105Q 1.000 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors TMEM256-PLSCR3 HGNC ENSG00000187838 135 0 0 112 16 12.5 SLC16A5 0 genome.wustl.edu 37 17 73094211 73094211 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 73094211 73094211 G A SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known missense c.278 p.G93D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 273 0 0 157 114 42.0664 C17orf74 0 genome.wustl.edu 37 17 7329696 7329696 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7329696 7329696 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.386 p.R129H 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 75 0 0 54 8 12.9032 ZBTB4 0 genome.wustl.edu 37 17 7369945 7369945 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7369945 7369945 A G SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.176 p.L59P 0.801 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 44 0 0 33 3 8.33333 WBP2 0 genome.wustl.edu 37 17 73847693 73847693 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 73847693 73847693 A G SNP WBP2 ENST00000254806 human ensembl 74_37 -1 known missense c.124 p.F42L 1.000 pfam_GRAM pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2 HGNC ENSG00000132471 169 0 0 119 37 23.7179 TRIM65 0 genome.wustl.edu 37 17 73888403 73888403 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 73888403 73888403 T C SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known missense c.689 p.H230R 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 42 0 0 29 4 12.1212 SOX15 0 genome.wustl.edu 37 17 7492805 7492805 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7492805 7492805 G A SNP SOX15 ENST00000250055 human ensembl 74_37 -1 known missense c.190 p.R64C 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX15 HGNC ENSG00000129194 42 0 0 25 11 30.5556 SYNGR2 0 genome.wustl.edu 37 17 76166922 76166922 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76166922 76166922 T C SNP SYNGR2 ENST00000225777 human ensembl 74_37 +1 known missense c.124 p.C42R 1.000 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR2 HGNC ENSG00000108639 336 0 0 288 57 16.5217 BIRC5 0 genome.wustl.edu 37 17 76219623 76219623 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76219623 76219623 T C SNP BIRC5 ENST00000374948 human ensembl 74_37 +1 known missense c.299 p.L100P 0.007 NULL pfam_BIR,smart_BIR,pfscan_BIR - no_errors BIRC5 HGNC ENSG00000089685 41 0 0 19 19 50 DNAH17 0 genome.wustl.edu 37 17 76471533 76471533 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76471533 76471533 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.8296 p.V2766M 0.110 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 105 1 0.943396 65 23 26.1364 CANT1 0 genome.wustl.edu 37 17 76989803 76989803 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 76989803 76989803 C T SNP CANT1 ENST00000302345 human ensembl 74_37 -1 known silent c.1035 p.S345 0.914 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 97 0 0 45 31 40.7895 TMEM88 0 genome.wustl.edu 37 17 7758956 7758956 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7758956 7758956 G A SNP TMEM88 ENST00000301599 human ensembl 74_37 +1 known missense c.404 p.R135H 0.914 NULL NULL - no_errors TMEM88 HGNC ENSG00000167874 47 0 0 31 6 16.2162 RNF213 0 genome.wustl.edu 37 17 78321601 78321601 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 78321601 78321601 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.9466 p.V3156I 0.800 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 66 0 0 56 10 15.1515 CNTROB 0 genome.wustl.edu 37 17 7843489 7843489 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7843489 7843489 C T SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known missense c.1240 p.R414W 0.738 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 163 0 0 100 36 26.4706 PPP1R27 0 genome.wustl.edu 37 17 79792786 79792786 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 79792786 79792786 T C SNP PPP1R27 ENST00000330261 human ensembl 74_37 -1 known missense c.44 p.Q15R 0.266 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R27 HGNC ENSG00000182676 44 0 0 41 4 8.88889 ANAPC11 0 genome.wustl.edu 37 17 79857371 79857371 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 79857371 79857371 T C SNP ANAPC11 ENST00000357385 human ensembl 74_37 +1 known silent c.363 p.L121 0.000 NULL NULL - no_errors ANAPC11 HGNC ENSG00000141552 58 0 0 53 15 22.0588 NOTUM 0 genome.wustl.edu 37 17 79910898 79910898 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 79910898 79910898 A G SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known missense c.1430 p.V477A 1.000 NULL pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 121 0 0 122 7 5.42636 CD7 0 genome.wustl.edu 37 17 80274674 80274674 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80274674 80274674 T G SNP CD7 ENST00000312648 human ensembl 74_37 -1 known missense c.266 p.D89A 0.004 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 218 0 0 192 13 6.34146 UTS2R 0 genome.wustl.edu 37 17 80332343 80332343 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80332343 80332343 T A SNP UTS2R ENST00000313135 human ensembl 74_37 +1 known missense c.143 p.L48Q 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn - no_errors UTS2R HGNC ENSG00000181408 12 0 0 10 3 23.0769 HEXDC 0 genome.wustl.edu 37 17 80400468 80400468 + Nonstop_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80400468 80400468 A G SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known nonstop c.1758 p.*586W 0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 155 0 0 146 14 8.75 C17orf62 0 genome.wustl.edu 37 17 80401836 80401836 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80401836 80401836 A G SNP C17orf62 ENST00000336995 human ensembl 74_37 -1 known missense c.163 p.W55R 0.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 340 0 0 295 26 8.09969 PFAS 0 genome.wustl.edu 37 17 8159913 8159913 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8159913 8159913 A C SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.893 p.Q298P 0.327 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 89 0 0 76 20 20.8333 MYH10 0 genome.wustl.edu 37 17 8383629 8383629 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8383629 8383629 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5366 p.T1789I 0.878 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 130 0 0 94 21 18.2609 PIK3R5 0 genome.wustl.edu 37 17 8791602 8791602 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8791602 8791602 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1502 p.R501H 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 125 0 0 103 24 18.8976 MC5R 0 genome.wustl.edu 37 18 13825821 13825821 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 13825821 13825821 C T SNP MC5R ENST00000324750 human ensembl 74_37 +1 known silent c.57 p.G19 0.526 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 79 0 0 54 21 28 TAF4B 0 genome.wustl.edu 37 18 23937693 23937693 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 23937693 23937693 G A SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.2356 p.A786T 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 75 0 0 50 12 19.3548 DSG4 0 genome.wustl.edu 37 18 28991213 28991213 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 28991213 28991213 T C SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known silent c.2214 p.Y738 0.997 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 162 1 0.613497 93 28 23.1405 SLC39A6 0 genome.wustl.edu 37 18 33706484 33706484 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 33706484 33706484 C A SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.487 p.G163W 0.029 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 149 0 0 118 25 17.4825 CELF4 0 genome.wustl.edu 37 18 34853110 34853110 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 34853110 34853110 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.818 p.A273V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 91 0 0 77 11 12.5 DLGAP1 0 genome.wustl.edu 37 18 3502440 3502440 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 3502440 3502440 A G SNP DLGAP1 ENST00000515196 human ensembl 74_37 -1 known silent c.2775 p.T925 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 29 0 0 21 6 22.2222 EPG5 0 genome.wustl.edu 37 18 43496050 43496050 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 43496050 43496050 A G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.3506 p.M1169T 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 50 0 0 54 10 15.625 MBD1 0 genome.wustl.edu 37 18 47796137 47796137 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 47796137 47796137 G A SNP MBD1 ENST00000587605 human ensembl 74_37 -1 known missense c.1517 p.P506L 0.016 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 68 0 0 34 16 32 MAPK4 0 genome.wustl.edu 37 18 48255583 48255583 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 48255583 48255583 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.1123 p.A375T 0.015 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_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 95 0 0 78 8 9.30233 ME2 0 genome.wustl.edu 37 18 48434457 48434457 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 48434457 48434457 C T SNP ME2 ENST00000321341 human ensembl 74_37 +1 known nonsense c.133 p.R45* 1.000 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 67 0 0 46 3 6.12245 EPB41L3 0 genome.wustl.edu 37 18 5397249 5397249 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 5397249 5397249 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2649 p.Q883H 0.997 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 142 0 0 112 17 13.1783 FECH 0 genome.wustl.edu 37 18 55247367 55247367 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 55247367 55247367 G T SNP FECH ENST00000382873 human ensembl 74_37 -1 known silent c.132 p.A44 0.000 NULL pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 109 0 0 106 7 6.19469 BCL2 0 genome.wustl.edu 37 18 60985761 60985761 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 60985761 60985761 C T SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known missense c.139 p.G47S 0.120 prints_Apop_reg_Bcl2,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 69 0 0 45 22 32.8358 CD226 0 genome.wustl.edu 37 18 67563064 67563064 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 67563064 67563064 G A SNP CD226 ENST00000280200 human ensembl 74_37 -1 known silent c.600 p.S200 0.015 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD226 HGNC ENSG00000150637 128 0 0 77 18 18.9474 ZNF407 0 genome.wustl.edu 37 18 72344920 72344920 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 72344920 72344920 T C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known silent c.1945 p.L649 0.133 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 112 0 0 76 20 20.8333 ZNF407 0 genome.wustl.edu 37 18 72632589 72632589 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 72632589 72632589 A C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5369 p.N1790T 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 37 0 0 19 8 29.6296 ZNF516 0 genome.wustl.edu 37 18 74090902 74090902 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 74090902 74090902 T A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.3167 p.D1056V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 122 0 0 84 12 12.5 SALL3 0 genome.wustl.edu 37 18 76755442 76755442 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 76755442 76755442 A G SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3451 p.T1151A 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 27 0 0 14 5 26.3158 SOGA2 0 genome.wustl.edu 37 18 8806949 8806949 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 8806949 8806949 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.2495 p.A832V 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 55 0 0 26 4 13.3333 DNMT1 0 genome.wustl.edu 37 19 10259645 10259645 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10259645 10259645 A G SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.2635 p.Y879H 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 83 0 0 82 7 7.86517 ICAM4 0 genome.wustl.edu 37 19 10398394 10398394 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10398394 10398394 T C SNP ICAM4 ENST00000340992 human ensembl 74_37 +1 known missense c.500 p.L167P 0.071 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 99 0 0 73 12 14.1176 RAVER1 0 genome.wustl.edu 37 19 10444093 10444093 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10444093 10444093 C T SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known missense c.142 p.A48T 0.941 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 127 0 0 104 23 18.1102 TYK2 0 genome.wustl.edu 37 19 10465245 10465245 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10465245 10465245 C T SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.2658 p.A886 0.147 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 108 0 0 84 6 6.66667 ABCA7 0 genome.wustl.edu 37 19 1054088 1054088 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1054088 1054088 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3556 p.A1186T 0.057 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 142 0 0 121 30 19.8675 S1PR5 0 genome.wustl.edu 37 19 10625152 10625152 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10625152 10625152 A G SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known missense c.536 p.L179P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 13 0 0 16 5 23.8095 AP1M2 0 genome.wustl.edu 37 19 10694742 10694742 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10694742 10694742 A G SNP AP1M2 ENST00000590923 human ensembl 74_37 -1 known missense c.47 p.L16S 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 12 0 0 16 5 23.8095 POLR2E 0 genome.wustl.edu 37 19 1090131 1090131 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1090131 1090131 T C SNP POLR2E ENST00000215587 human ensembl 74_37 -1 known missense c.443 p.H148R 1.000 pfam_RNA_pol_subH/Rpb5_C,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA_RNA_pol_RPB5_euk/virus pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA_RNA_pol_RPB5_euk/virus - no_errors POLR2E HGNC ENSG00000099817 84 0 0 61 4 6.15385 KANK2 0 genome.wustl.edu 37 19 11304488 11304488 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11304488 11304488 T C SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.268 p.N90D 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 135 0 0 97 17 14.9123 ELOF1 0 genome.wustl.edu 37 19 11664579 11664579 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11664579 11664579 G A SNP ELOF1 ENST00000252445 human ensembl 74_37 -1 known silent c.234 p.C78 0.995 pfam_Elf1 pfam_Elf1 - no_errors ELOF1 HGNC ENSG00000130165 97 0 0 84 18 17.6471 WDR83 0 genome.wustl.edu 37 19 12781601 12781601 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 12781601 12781601 A C SNP WDR83 ENST00000242796 human ensembl 74_37 +1 known missense c.472 p.S158R 1.000 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,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR83 HGNC ENSG00000123154 45 0 0 35 7 16.6667 HOOK2 0 genome.wustl.edu 37 19 12874103 12874103 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 12874103 12874103 T G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.2153 p.K718T 1.000 NULL pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 77 0 0 54 12 18.1818 HOOK2 0 genome.wustl.edu 37 19 12875861 12875861 + Silent SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 12875861 12875861 T G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.1675 p.R559 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 215 0 0 172 13 7.02703 DAZAP1 0 genome.wustl.edu 37 19 1425903 1425903 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1425903 1425903 G A SNP DAZAP1 ENST00000233078 human ensembl 74_37 +1 known missense c.490 p.E164K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 217 1 0.458716 138 24 14.8148 CLEC17A 0 genome.wustl.edu 37 19 14707965 14707965 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 14707965 14707965 G A SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known missense c.638 p.R213Q 0.004 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 21 0 0 13 5 27.7778 SLC1A6 0 genome.wustl.edu 37 19 15079239 15079239 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 15079239 15079239 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.424 p.A142T 0.997 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 25 0 0 29 4 12.1212 TCF3 0 genome.wustl.edu 37 19 1619184 1619184 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1619184 1619184 A G SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.1376 p.M459T 0.761 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 84 0 0 65 18 21.6867 EPS15L1 0 genome.wustl.edu 37 19 16495978 16495978 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 16495978 16495978 T C SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.2209 p.S737G 0.435 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 226 0 0 175 38 17.8404 C19orf44 0 genome.wustl.edu 37 19 16620764 16620764 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 16620764 16620764 C T SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.1604 p.T535M 0.992 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 108 0 0 110 10 8.33333 ATP8B3 0 genome.wustl.edu 37 19 1785607 1785607 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1785607 1785607 T C SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.3284 p.H1095R 0.834 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP8B3 HGNC ENSG00000130270 46 0 0 40 4 9.09091 JAK3 0 genome.wustl.edu 37 19 17942133 17942133 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 17942133 17942133 G A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.2882 p.A961V 0.848 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 254 0 0 175 47 21.1712 RAB3A 0 genome.wustl.edu 37 19 18311206 18311206 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18311206 18311206 C T SNP RAB3A ENST00000222256 human ensembl 74_37 -1 known missense c.278 p.R93Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3A HGNC ENSG00000105649 109 0 0 90 11 10.8911 ISYNA1 0 genome.wustl.edu 37 19 18546592 18546592 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18546592 18546592 G A SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known missense c.1115 p.T372M 0.001 pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 125 0 0 101 29 22.3077 ABHD17A 0 genome.wustl.edu 37 19 1880893 1880893 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1880893 1880893 A G SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known splice_site c.485+2 e2+2 0.000 - - - no_errors ABHD17A HGNC ENSG00000129968 70 0 0 59 18 23.3766 CRTC1 0 genome.wustl.edu 37 19 18870897 18870897 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18870897 18870897 C A SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known missense c.793 p.L265M 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 204 0 0 185 12 6.09137 UPF1 0 genome.wustl.edu 37 19 18976945 18976945 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 18976945 18976945 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.3363 p.G1121 0.743 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 24 0 0 17 3 15 MAU2 0 genome.wustl.edu 37 19 19447980 19447980 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 19447980 19447980 A T SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.362 p.N121I 1.000 pfam_Cohesin_loading_factor,smart_TPR_repeat pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 27 0 0 24 3 11.1111 MKNK2 0 genome.wustl.edu 37 19 2043141 2043141 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 2043141 2043141 A C SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.475 p.F159V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 302 0 0 228 22 8.8 AP3D1 0 genome.wustl.edu 37 19 2118678 2118678 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 2118678 2118678 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.1635 p.G545 0.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 72 0 0 36 9 20 TMPRSS9 0 genome.wustl.edu 37 19 2415823 2415823 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 2415823 2415823 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.1627 p.A543T 0.999 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 115 1 0.862069 73 10 12.0482 PLEKHF1 0 genome.wustl.edu 37 19 30165133 30165133 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 30165133 30165133 C T SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.387 p.C129 0.832 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 59 0 0 29 4 12.1212 TSHZ3 0 genome.wustl.edu 37 19 31767888 31767888 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 31767888 31767888 C G SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.2811 p.R937S 0.999 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 72 0 0 54 12 18.1818 GPATCH1 0 genome.wustl.edu 37 19 33579129 33579129 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 33579129 33579129 G A SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known missense c.163 p.G55R 1.000 pfam_DUF1604 pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 87 0 0 66 5 7.04225 CHST8 0 genome.wustl.edu 37 19 34263784 34263784 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 34263784 34263784 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.1091 p.A364V 0.994 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 80 0 0 39 10 20.4082 FXYD1 0 genome.wustl.edu 37 19 35630989 35630989 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 35630989 35630989 G A SNP FXYD1 ENST00000351325 human ensembl 74_37 +1 known silent c.6 p.A2 0.002 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD1 HGNC ENSG00000266964 130 0 0 78 19 19.5876 KMT2B 0 genome.wustl.edu 37 19 36210709 36210709 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 36210709 36210709 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.460 p.R154C 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 196 0 0 158 28 15.0538 NPHS1 0 genome.wustl.edu 37 19 36322039 36322039 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 36322039 36322039 T G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.3397 p.T1133P 0.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 159 0 0 126 14 10 KIRREL2 0 genome.wustl.edu 37 19 36357367 36357367 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 36357367 36357367 C T SNP KIRREL2 ENST00000262625 human ensembl 74_37 +1 known missense c.1831 p.P611S 0.975 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 239 0 0 178 32 15.2381 ZNF383 0 genome.wustl.edu 37 19 37733610 37733610 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 37733610 37733610 A G SNP ZNF383 ENST00000352998 human ensembl 74_37 +1 known missense c.472 p.T158A 0.958 NULL 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 ZNF383 HGNC ENSG00000188283 83 0 0 62 9 12.6761 HKR1 0 genome.wustl.edu 37 19 37854555 37854555 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 37854555 37854555 T C SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1858 p.S620P 0.364 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 HKR1 HGNC ENSG00000181666 119 0 0 79 14 15.0538 ZNF793 0 genome.wustl.edu 37 19 38028170 38028170 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38028170 38028170 A G SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.610 p.M204V 0.003 NULL 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 ZNF793 HGNC ENSG00000188227 47 0 0 39 7 15.2174 SIPA1L3 0 genome.wustl.edu 37 19 38684260 38684260 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38684260 38684260 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.4680 p.P1560 0.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 23 0 0 23 6 20.6897 RYR1 0 genome.wustl.edu 37 19 38931487 38931487 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38931487 38931487 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.148 p.P50S 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 38 0 0 24 7 22.5806 RYR1 0 genome.wustl.edu 37 19 38987143 38987143 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 38987143 38987143 A G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.6758 p.H2253R 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 129 0 0 89 6 6.31579 ACTN4 0 genome.wustl.edu 37 19 39220032 39220032 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 39220032 39220032 A G SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.2696 p.K899R 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 53 0 0 35 3 7.89474 PAK4 0 genome.wustl.edu 37 19 39667303 39667303 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 39667303 39667303 C T SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.1433 p.T478M 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 273 0 0 163 41 20.098 HIPK4 0 genome.wustl.edu 37 19 40895497 40895497 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 40895497 40895497 A G SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.313 p.F105L 1.000 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_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 HIPK4 HGNC ENSG00000160396 105 0 0 81 8 8.98876 CYP2B6 0 genome.wustl.edu 37 19 41516003 41516003 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 41516003 41516003 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known silent c.927 p.Y309 0.979 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 83 0 0 61 7 10.2941 ZNF574 0 genome.wustl.edu 37 19 42583760 42583760 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42583760 42583760 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.1272 p.G424 0.530 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 144 0 0 98 19 16.2393 ZNF574 0 genome.wustl.edu 37 19 42585228 42585228 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42585228 42585228 T C SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2740 p.C914R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 128 0 0 105 14 11.7647 GSK3A 0 genome.wustl.edu 37 19 42736274 42736274 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42736274 42736274 G A SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known missense c.1313 p.A438V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3A HGNC ENSG00000105723 31 0 0 19 4 17.3913 CIC 0 genome.wustl.edu 37 19 42796825 42796825 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42796825 42796825 T G SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.3283 p.F1095V 0.826 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 155 0 0 102 14 12.069 PSG8 0 genome.wustl.edu 37 19 43268391 43268391 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 43268391 43268391 A T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.107 p.V36D 0.011 pfam_Ig_V-set pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 235 0 0 157 44 21.8905 ZNF225 0 genome.wustl.edu 37 19 44635701 44635701 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 44635701 44635701 C T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known nonsense c.934 p.R312* 0.071 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 ZNF225 HGNC ENSG00000256294 213 1 0.46729 157 40 20.3046 ZNF234 0 genome.wustl.edu 37 19 44660598 44660598 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 44660598 44660598 A T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known silent c.429 p.T143 0.000 NULL 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 ZNF234 HGNC ENSG00000263002 85 0 0 71 4 5.33333 RELB 0 genome.wustl.edu 37 19 45515294 45515294 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 45515294 45515294 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known silent c.264 p.A88 0.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 22 0 0 16 3 15.7895 ERCC2 0 genome.wustl.edu 37 19 45868176 45868176 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 45868176 45868176 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.514 p.A172T 0.015 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 48 0 0 30 14 31.8182 FBXO46 0 genome.wustl.edu 37 19 46215461 46215461 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 46215461 46215461 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1293 p.A431 0.003 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 33 0 0 22 6 21.4286 DMPK 0 genome.wustl.edu 37 19 46280790 46280790 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 46280790 46280790 A T SNP DMPK ENST00000343373 human ensembl 74_37 -1 known missense c.971 p.I324N 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 100 0 0 73 4 5.19481 DPP9 0 genome.wustl.edu 37 19 4704208 4704208 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 4704208 4704208 G T SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.535 p.L179I 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 115 0 0 73 16 17.9775 ARHGAP35 0 genome.wustl.edu 37 19 47421989 47421989 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47421989 47421989 G T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known silent c.57 p.V19 1.000 superfamily_P-loop_NTPase 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 179 0 0 129 28 17.8344 ZC3H4 0 genome.wustl.edu 37 19 47588577 47588577 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47588577 47588577 C A SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.965 p.R322L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 182 0 0 141 40 22.0994 DHX34 0 genome.wustl.edu 37 19 47858523 47858523 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47858523 47858523 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known silent c.933 p.S311 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 235 0 0 174 24 12.1212 DHX34 0 genome.wustl.edu 37 19 47884214 47884214 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47884214 47884214 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.3124 p.A1042T 0.001 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 70 0 0 50 13 20.6349 SLC8A2 0 genome.wustl.edu 37 19 47960233 47960233 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 47960233 47960233 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.1294 p.R432C 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 43 0 0 29 4 12.1212 CCDC114 0 genome.wustl.edu 37 19 48800319 48800319 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 48800319 48800319 C T SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.1927 p.G643R 0.006 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 104 0 0 72 21 22.5806 CYTH2 0 genome.wustl.edu 37 19 48981328 48981328 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 48981328 48981328 G A SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known missense c.814 p.G272S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 119 0 0 69 15 17.8571 FAM83E 0 genome.wustl.edu 37 19 49116448 49116448 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49116448 49116448 G A SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.182 p.A61V 0.000 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 57 0 0 50 3 5.66038 FUT1 0 genome.wustl.edu 37 19 49254323 49254323 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49254323 49254323 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.216 p.Q72 0.008 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 59 0 0 35 8 18.6047 NUCB1 0 genome.wustl.edu 37 19 49422025 49422025 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49422025 49422025 C T SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.800 p.A267V 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 47 0 0 45 8 15.0943 RUVBL2 0 genome.wustl.edu 37 19 49507566 49507566 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49507566 49507566 A T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known silent c.156 p.A52 0.998 pfam_TIP49_C,superfamily_P-loop_NTPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 142 0 0 113 13 10.3175 RUVBL2 0 genome.wustl.edu 37 19 49513070 49513070 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49513070 49513070 A T SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.500 p.E167V 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 153 0 0 108 24 18.1818 LHB 0 genome.wustl.edu 37 19 49519922 49519922 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49519922 49519922 C T SNP LHB ENST00000221421 human ensembl 74_37 -1 known missense c.65 p.R22K 0.997 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC ENSG00000104826 150 0 0 94 21 18.2609 KCNA7 0 genome.wustl.edu 37 19 49573326 49573326 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 49573326 49573326 T C SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known silent c.1365 p.E455 0.976 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 102 1 0.970874 127 10 7.29927 LIM2 0 genome.wustl.edu 37 19 51890410 51890410 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 51890410 51890410 C A SNP LIM2 ENST00000221973 human ensembl 74_37 -1 known missense c.288 p.K96N 0.001 NULL pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20 - no_errors LIM2 HGNC ENSG00000105370 29 0 0 25 7 21.875 ZNF577 0 genome.wustl.edu 37 19 52376178 52376178 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 52376178 52376178 T C SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known silent c.1065 p.S355 0.002 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 ZNF577 HGNC ENSG00000161551 83 0 0 65 14 17.7215 ZNF615 0 genome.wustl.edu 37 19 52497089 52497089 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 52497089 52497089 A G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1273 p.C425R 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 ZNF615 HGNC ENSG00000197619 80 0 0 57 6 9.52381 ZNF616 0 genome.wustl.edu 37 19 52619685 52619685 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 52619685 52619685 A G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.732 p.D244 0.009 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 ZNF616 HGNC ENSG00000204611 104 0 0 85 8 8.60215 ZNF160 0 genome.wustl.edu 37 19 53571351 53571351 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 53571351 53571351 G A SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known silent c.2436 p.T812 0.990 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 ZNF160 HGNC ENSG00000170949 120 0 0 99 21 17.5 VN1R4 0 genome.wustl.edu 37 19 53770112 53770112 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 53770112 53770112 A G SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known silent c.807 p.T269 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 75 0 0 45 9 16.6667 ZNF845 0 genome.wustl.edu 37 19 53855133 53855133 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 53855133 53855133 G A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.015 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 ZNF845 HGNC ENSG00000213799 133 0 0 111 20 15.2672 NLRP12 0 genome.wustl.edu 37 19 54327404 54327404 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 54327404 54327404 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.25 p.G9S 0.007 pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 60 0 0 60 7 10.4478 LILRB1 0 genome.wustl.edu 37 19 55143553 55143553 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55143553 55143553 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.526 p.G176R 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 169 0 0 137 44 24.3094 LILRB4 0 genome.wustl.edu 37 19 55174491 55174491 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55174491 55174491 C A SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.6 p.I2 0.001 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 111 0 0 71 11 13.4146 RDH13 0 genome.wustl.edu 37 19 55570577 55570577 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55570577 55570577 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.132 p.T44 0.713 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 13 0 0 8 3 27.2727 CCDC106 0 genome.wustl.edu 37 19 56160797 56160797 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 56160797 56160797 G A SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known missense c.160 p.A54T 0.001 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 54 0 0 43 7 14 NLRP5 0 genome.wustl.edu 37 19 56538966 56538966 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 56538966 56538966 G A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.1367 p.R456H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 46 0 0 40 12 23.0769 ZNF835 0 genome.wustl.edu 37 19 57175758 57175758 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 57175758 57175758 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.809 p.R270H 0.034 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 29 0 0 26 7 21.2121 ZIM3 0 genome.wustl.edu 37 19 57647396 57647396 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 57647396 57647396 T G SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known missense c.309 p.E103D 0.000 NULL 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 ZIM3 HGNC ENSG00000141946 182 0 0 119 7 5.55556 PRR22 0 genome.wustl.edu 37 19 5783101 5783101 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5783101 5783101 T G SNP PRR22 ENST00000419421 human ensembl 74_37 -1 known missense c.1157 p.K386T 0.008 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 73 0 0 57 6 9.52381 FUT3 0 genome.wustl.edu 37 19 5844264 5844264 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5844264 5844264 G A SNP FUT3 ENST00000303225 human ensembl 74_37 -1 known missense c.587 p.A196V 0.975 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 102 0 0 64 17 20.9877 ZSCAN18 0 genome.wustl.edu 37 19 58600183 58600183 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 58600183 58600183 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.593 p.A198V 0.000 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 94 0 0 71 14 16.4706 MZF1 0 genome.wustl.edu 37 19 59074333 59074333 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 59074333 59074333 T A SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.1311 p.E437D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 39 0 0 32 4 11.1111 DENND1C 0 genome.wustl.edu 37 19 6470366 6470366 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 6470366 6470366 G A SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.1302 p.G434 0.786 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 29 0 0 8 8 50 DENND1C 0 genome.wustl.edu 37 19 6479033 6479033 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 6479033 6479033 A G SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.211 p.F71L 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 207 0 0 152 16 9.52381 ZNF358 0 genome.wustl.edu 37 19 7585101 7585101 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 7585101 7585101 G T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.973 p.G325C 0.992 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 149 0 0 122 13 9.62963 CLEC4M 0 genome.wustl.edu 37 19 7833781 7833781 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 7833781 7833781 G A SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known silent c.1107 p.A369 0.000 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,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 163 0 0 88 10 10.2041 FBN3 0 genome.wustl.edu 37 19 8175836 8175836 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 8175836 8175836 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.4226 p.A1409V 0.412 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 106 0 0 66 23 25.8427 ADAMTS10 0 genome.wustl.edu 37 19 8657735 8657735 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 8657735 8657735 C A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.1499 p.W500L 1.000 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 47 0 0 28 6 17.6471 MUC16 0 genome.wustl.edu 37 19 9057431 9057431 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9057431 9057431 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30015 p.E10005D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 122 0 0 96 20 17.2414 MUC16 0 genome.wustl.edu 37 19 9062515 9062515 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9062515 9062515 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24931 p.M8311V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 143 0 0 83 14 14.433 MUC16 0 genome.wustl.edu 37 19 9067750 9067750 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9067750 9067750 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.19696 p.L6566 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 78 0 0 84 10 10.6383 MUC16 0 genome.wustl.edu 37 19 9087688 9087688 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9087688 9087688 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4127 p.L1376P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 124 0 0 95 25 20.8333 OR7D4 0 genome.wustl.edu 37 19 9325000 9325000 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9325000 9325000 T C SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.514 p.T172A 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 OR7D4 HGNC ENSG00000174667 127 0 0 79 15 15.9574 CNOT11 0 genome.wustl.edu 37 2 101885600 101885600 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 101885600 101885600 T C SNP CNOT11 ENST00000289382 human ensembl 74_37 +1 known splice_site c.1335+2 e6+2 0.159 - - - no_errors CNOT11 HGNC ENSG00000158435 34 0 0 20 6 23.0769 IL18R1 0 genome.wustl.edu 37 2 103011054 103011054 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 103011054 103011054 T C SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known missense c.1237 p.C413R 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 63 0 0 63 9 12.5 MFSD9 0 genome.wustl.edu 37 2 103335430 103335430 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 103335430 103335430 G A SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known missense c.874 p.R292C 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 84 0 0 54 13 19.403 PSD4 0 genome.wustl.edu 37 2 113958951 113958951 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 113958951 113958951 T C SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.3130 p.Y1044H 0.999 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 77 0 0 56 17 23.2877 DDX18 0 genome.wustl.edu 37 2 118578756 118578756 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 118578756 118578756 G A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known silent c.534 p.S178 0.087 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 55 0 0 29 11 27.5 MARCO 0 genome.wustl.edu 37 2 119729110 119729110 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 119729110 119729110 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.460 p.G154C 1.000 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 125 0 0 90 27 23.0769 GLI2 0 genome.wustl.edu 37 2 121744079 121744079 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 121744079 121744079 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.2182 p.R728W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 67 0 0 39 15 27.7778 SNTG2 0 genome.wustl.edu 37 2 1271276 1271276 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 1271276 1271276 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1217 p.G406D 0.976 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 50 0 0 36 6 14.2857 GPR17 0 genome.wustl.edu 37 2 128408857 128408857 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 128408857 128408857 A T SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known missense c.632 p.Q211L 1.000 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_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 199 0 0 135 11 7.53425 ACMSD 0 genome.wustl.edu 37 2 135621197 135621197 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 135621197 135621197 A G SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.482 p.Y161C 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 50 0 0 33 8 19.5122 CXCR4 0 genome.wustl.edu 37 2 136872937 136872937 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 136872937 136872937 G A SNP CXCR4 ENST00000409817 human ensembl 74_37 -1 known silent c.573 p.D191 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 118 0 0 66 19 22.3529 LRP1B 0 genome.wustl.edu 37 2 141259315 141259315 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 141259315 141259315 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8791 p.L2931V 0.933 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 100 0 0 50 11 18.0328 PLA2R1 0 genome.wustl.edu 37 2 160885389 160885389 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 160885389 160885389 C T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known silent c.927 p.T309 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 46 0 0 39 4 9.30233 DPP4 0 genome.wustl.edu 37 2 162929958 162929958 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 162929958 162929958 A G SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known silent c.45 p.A15 0.970 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 117 0 0 82 7 7.86517 PXDN 0 genome.wustl.edu 37 2 1652558 1652558 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 1652558 1652558 A G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2994 p.I998 0.837 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 15 0 0 17 6 26.087 CSRNP3 0 genome.wustl.edu 37 2 166536039 166536039 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 166536039 166536039 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1534 p.G512S 0.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 64 0 0 44 18 29.0323 METTL8 0 genome.wustl.edu 37 2 172187108 172187108 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 172187108 172187108 A G SNP METTL8 ENST00000392604 human ensembl 74_37 -1 known missense c.821 p.I274T 1.000 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 88 0 0 54 16 22.8571 SLC25A12 0 genome.wustl.edu 37 2 172725276 172725276 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 172725276 172725276 G A SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.124 p.R42C 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 72 0 0 48 12 20 PRKRA 0 genome.wustl.edu 37 2 179312289 179312289 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 179312289 179312289 G A SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known missense c.260 p.A87V 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors PRKRA HGNC ENSG00000180228 107 0 0 91 21 18.75 CCDC141 0 genome.wustl.edu 37 2 179718336 179718336 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 179718336 179718336 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.3076 p.E1026K 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 83 0 0 55 9 14.0625 SSFA2 0 genome.wustl.edu 37 2 182780823 182780823 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 182780823 182780823 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.2456 p.R819Q 0.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 103 0 0 57 10 14.9254 STAT4 0 genome.wustl.edu 37 2 191919252 191919252 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 191919252 191919252 C A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.1215 p.K405N 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 140 0 0 87 23 20.9091 MYO1B 0 genome.wustl.edu 37 2 192228909 192228909 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 192228909 192228909 C T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known silent c.939 p.T313 0.721 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 121 0 0 77 7 8.33333 ANKRD44 0 genome.wustl.edu 37 2 197872607 197872607 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 197872607 197872607 C T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.1978 p.A660T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 ANKRD44 HGNC ENSG00000065413 91 0 0 83 6 6.74157 SATB2 0 genome.wustl.edu 37 2 200213735 200213735 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 200213735 200213735 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.862 p.A288T 0.984 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 129 0 0 98 26 20.9677 WDR35 0 genome.wustl.edu 37 2 20162057 20162057 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 20162057 20162057 G A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.1226 p.T409M 0.998 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 43 0 0 34 6 15 ALS2CR11 0 genome.wustl.edu 37 2 202467983 202467983 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 202467983 202467983 T C SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.334 p.I112V 0.350 superfamily_C2_dom superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 74 0 0 42 14 25 ALS2 0 genome.wustl.edu 37 2 202571652 202571652 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 202571652 202571652 G A SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known silent c.4497 p.R1499 0.106 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 115 0 0 81 28 25.6881 GPR1 0 genome.wustl.edu 37 2 207041601 207041601 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 207041601 207041601 C T SNP GPR1 ENST00000407325 human ensembl 74_37 -1 known missense c.371 p.S124N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 149 0 0 114 13 10.2362 KANSL1L 0 genome.wustl.edu 37 2 210896239 210896239 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 210896239 210896239 T A SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known silent c.2061 p.G687 0.999 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 123 0 0 74 22 22.9167 TNS1 0 genome.wustl.edu 37 2 218683387 218683387 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 218683387 218683387 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3356 p.S1119N 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 117 0 0 74 10 11.9048 GPBAR1 0 genome.wustl.edu 37 2 219127775 219127775 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219127775 219127775 C T SNP GPBAR1 ENST00000479077 human ensembl 74_37 +1 known missense c.328 p.R110C 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPBAR1 HGNC ENSG00000179921 65 0 0 54 12 18.1818 SLC11A1 0 genome.wustl.edu 37 2 219251888 219251888 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219251888 219251888 C A SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.506 p.P169Q 0.998 pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 142 0 0 75 30 28.5714 VIL1 0 genome.wustl.edu 37 2 219302021 219302021 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219302021 219302021 C A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.2146 p.P716T 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 50 0 0 43 8 15.6863 TTLL4 0 genome.wustl.edu 37 2 219612339 219612339 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 219612339 219612339 C A SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.2269 p.L757I 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 165 0 0 99 19 16.1017 CNPPD1 0 genome.wustl.edu 37 2 220037592 220037592 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220037592 220037592 T C SNP CNPPD1 ENST00000360507 human ensembl 74_37 -1 known missense c.949 p.T317A 0.267 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 126 0 0 77 16 17.2043 GLB1L 0 genome.wustl.edu 37 2 220108288 220108288 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220108288 220108288 G T SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.8 p.P3H 0.058 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 82 0 0 65 13 16.6667 GMPPA 0 genome.wustl.edu 37 2 220370392 220370392 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220370392 220370392 T A SNP GMPPA ENST00000373917 human ensembl 74_37 +1 novel missense c.968 p.I323N 0.000 superfamily_Trimer_LpxA-like pfam_NTP_transferase,superfamily_Trimer_LpxA-like - no_errors GMPPA HGNC ENSG00000144591 48 0 0 34 6 15 CHPF 0 genome.wustl.edu 37 2 220405041 220405041 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220405041 220405041 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.1392 p.T464 0.474 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 112 0 0 79 22 21.7822 OBSL1 0 genome.wustl.edu 37 2 220427342 220427342 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 220427342 220427342 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2735 p.R912H 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 17 0 0 10 6 37.5 PAX3 0 genome.wustl.edu 37 2 223096997 223096997 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 223096997 223096997 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.592 p.A198T 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 96 0 0 80 21 20.7921 SP140L 0 genome.wustl.edu 37 2 231256879 231256879 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 231256879 231256879 G A SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.1042 p.A348T 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 106 0 0 88 22 20 ITM2C 0 genome.wustl.edu 37 2 231741676 231741676 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 231741676 231741676 C T SNP ITM2C ENST00000326427 human ensembl 74_37 +1 known silent c.555 p.N185 1.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ENSG00000135916 93 0 0 61 10 14.0845 UGT1A7 0 genome.wustl.edu 37 2 234591149 234591149 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 234591149 234591149 A G SNP UGT1A7 ENST00000373426 human ensembl 74_37 +1 known missense c.566 p.Y189C 0.503 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 248 0 0 171 43 20.0935 PDCD1 0 genome.wustl.edu 37 2 242793327 242793327 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 242793327 242793327 G T SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known silent c.750 p.T250 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 81 0 0 87 6 6.45161 PDCD1 0 genome.wustl.edu 37 2 242794488 242794488 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 242794488 242794488 G A SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known missense c.454 p.P152S 0.128 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 43 0 0 23 9 28.125 DNAJC27 0 genome.wustl.edu 37 2 25180758 25180758 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 25180758 25180758 G A SNP DNAJC27 ENST00000264711 human ensembl 74_37 -1 known missense c.326 p.A109V 0.550 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 108 0 0 77 16 17.2043 POMC 0 genome.wustl.edu 37 2 25387530 25387530 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 25387530 25387530 T C SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.112 p.T38A 1.000 pfam_Melanocortin_N pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 122 0 0 104 27 20.6107 KIF3C 0 genome.wustl.edu 37 2 26203974 26203974 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 26203974 26203974 G A SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.813 p.G271 0.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 79 0 0 45 8 15.0943 KIF3C 0 genome.wustl.edu 37 2 26204545 26204545 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 26204545 26204545 A G SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.242 p.L81P 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 156 0 0 143 14 8.9172 HADHA 0 genome.wustl.edu 37 2 26414132 26414132 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 26414132 26414132 T C SNP HADHA ENST00000380649 human ensembl 74_37 -1 known missense c.2279 p.K760R 1.000 superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 86 0 0 47 7 12.963 AGBL5 0 genome.wustl.edu 37 2 27278919 27278919 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27278919 27278919 C T SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.1278 p.G426 0.279 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 298 1 0.334448 207 45 17.8571 KHK 0 genome.wustl.edu 37 2 27322381 27322381 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27322381 27322381 C T SNP KHK ENST00000260598 human ensembl 74_37 +1 known silent c.747 p.R249 0.003 pfam_PfkB_dom pfam_PfkB_dom - no_errors KHK HGNC ENSG00000138030 119 0 0 78 15 16.129 MPV17 0 genome.wustl.edu 37 2 27535898 27535898 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27535898 27535898 C T SNP MPV17 ENST00000233545 human ensembl 74_37 -1 known missense c.149 p.R50Q 1.000 NULL pfam_Mpv17_PMP22 - no_errors MPV17 HGNC ENSG00000115204 154 0 0 122 11 8.27068 EIF2B4 0 genome.wustl.edu 37 2 27587323 27587323 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27587323 27587323 T C SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.1516 p.M506V 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 68 0 0 54 9 14.2857 IFT172 0 genome.wustl.edu 37 2 27707102 27707102 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 27707102 27707102 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.328 p.I110V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 112 0 0 91 9 9 LTBP1 0 genome.wustl.edu 37 2 33413835 33413835 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 33413835 33413835 C A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1618 p.H540N 0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 188 0 0 141 20 12.4224 NDUFAF7 0 genome.wustl.edu 37 2 37468910 37468910 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 37468910 37468910 C T SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known nonsense c.598 p.R200* 0.997 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 65 0 0 54 10 15.625 ALLC 0 genome.wustl.edu 37 2 3750034 3750034 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 3750034 3750034 G T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.1057 p.V353F 0.016 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 35 0 0 18 4 18.1818 SOS1 0 genome.wustl.edu 37 2 39262443 39262443 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 39262443 39262443 G A SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known silent c.984 p.G328 0.732 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 54 0 0 36 4 10 THUMPD2 0 genome.wustl.edu 37 2 39983101 39983101 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 39983101 39983101 C A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known splice_site c.892-1 e7-1 1.000 - - - no_errors THUMPD2 HGNC ENSG00000138050 62 0 0 50 9 15.2542 FBXO11 0 genome.wustl.edu 37 2 48046160 48046160 + Nonsense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 48046160 48046160 C A SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known nonsense c.1855 p.G619* 1.000 superfamily_F-box_dom,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 108 0 0 97 10 9.34579 FOXN2 0 genome.wustl.edu 37 2 48589834 48589834 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 48589834 48589834 C T SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known nonsense c.691 p.R231* 0.988 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 83 0 0 60 8 11.7647 SPTBN1 0 genome.wustl.edu 37 2 54858499 54858499 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 54858499 54858499 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.3315 p.E1105 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 153 0 0 114 25 17.9856 BCL11A 0 genome.wustl.edu 37 2 60688143 60688143 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 60688143 60688143 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1904 p.R635H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 62 0 0 45 14 23.7288 PUS10 0 genome.wustl.edu 37 2 61236034 61236034 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 61236034 61236034 A G SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known silent c.243 p.D81 0.082 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 31 0 0 24 5 17.2414 WDR92 0 genome.wustl.edu 37 2 68384436 68384436 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 68384436 68384436 T G SNP WDR92 ENST00000295121 human ensembl 74_37 -1 known missense c.140 p.Q47P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR92 HGNC ENSG00000243667 90 0 0 69 14 16.8675 ANTXR1 0 genome.wustl.edu 37 2 69351759 69351759 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 69351759 69351759 T C SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.935 p.I312T 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 112 0 0 68 21 23.5955 NFU1 0 genome.wustl.edu 37 2 69664502 69664502 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 69664502 69664502 A G SNP NFU1 ENST00000410022 human ensembl 74_37 -1 known missense c.53 p.L18P 0.990 pirsf_HIRA-interacting_protein_5 pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5 - no_errors NFU1 HGNC ENSG00000169599 37 0 0 22 4 15.3846 AAK1 0 genome.wustl.edu 37 2 69707999 69707999 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 69707999 69707999 A C SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.2562 p.N854K 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 AAK1 HGNC ENSG00000115977 16 0 0 11 3 21.4286 ASPRV1 0 genome.wustl.edu 37 2 70188545 70188545 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 70188545 70188545 A G SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known silent c.276 p.S92 0.233 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 77 0 0 73 11 13.0952 DYSF 0 genome.wustl.edu 37 2 71825816 71825816 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 71825816 71825816 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3736 p.A1246T 0.001 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 75 0 0 43 8 15.6863 HTRA2 0 genome.wustl.edu 37 2 74757945 74757945 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 74757945 74757945 T A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known silent c.708 p.T236 0.983 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 173 0 0 132 37 21.8935 GCFC2 0 genome.wustl.edu 37 2 75921512 75921512 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 75921512 75921512 T C SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.875 p.E292G 1.000 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 147 0 0 111 13 10.4839 LRRTM1 0 genome.wustl.edu 37 2 80530420 80530420 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 80530420 80530420 A G SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.525 p.F175 0.979 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 96 0 0 57 21 26.9231 GPAT2 0 genome.wustl.edu 37 2 96698081 96698081 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 96698081 96698081 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known silent c.27 p.C9 0.001 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 11 0 0 5 4 44.4444 KIAA1211L 0 genome.wustl.edu 37 2 99439662 99439662 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 99439662 99439662 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.1074 p.P358 0.072 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 16 0 0 8 3 27.2727 SIRPA 0 genome.wustl.edu 37 20 1915366 1915366 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 1915366 1915366 A G SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.1232 p.H411R 1.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 120 0 0 81 26 24.2991 RALGAPA2 0 genome.wustl.edu 37 20 20552181 20552181 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 20552181 20552181 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.3077 p.R1026H 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 29 0 0 15 3 16.6667 PAX1 0 genome.wustl.edu 37 20 21689276 21689276 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 21689276 21689276 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.997 p.A333T 0.040 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 101 0 0 85 21 19.8113 PLAGL2 0 genome.wustl.edu 37 20 30789769 30789769 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 30789769 30789769 A T SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known silent c.213 p.P71 0.966 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 88 0 0 57 14 19.7183 ASXL1 0 genome.wustl.edu 37 20 31017757 31017757 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 31017757 31017757 A G SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.619 p.S207G 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 86 0 0 53 19 26.3889 BPIFA2 0 genome.wustl.edu 37 20 31768343 31768343 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 31768343 31768343 A C SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.727 p.T243P 0.000 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 106 0 0 84 15 15.1515 GGT7 0 genome.wustl.edu 37 20 33440201 33440201 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 33440201 33440201 G A SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.1460 p.A487V 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 119 1 0.833333 99 10 9.17431 NFS1 0 genome.wustl.edu 37 20 34263044 34263044 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 34263044 34263044 T C SNP NFS1 ENST00000374092 human ensembl 74_37 -1 known missense c.871 p.M291V 0.975 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 62 0 0 44 9 16.9811 TLDC2 0 genome.wustl.edu 37 20 35506355 35506355 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 35506355 35506355 G A SNP TLDC2 ENST00000217320 human ensembl 74_37 +1 known silent c.87 p.E29 0.947 NULL pfam_TLDc,smart_TLDc - no_errors TLDC2 HGNC ENSG00000101342 105 0 0 94 7 6.93069 AP5S1 0 genome.wustl.edu 37 20 3802809 3802809 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 3802809 3802809 T A SNP AP5S1 ENST00000246041 human ensembl 74_37 +1 known silent c.45 p.T15 0.002 NULL NULL - no_errors AP5S1 HGNC ENSG00000125843 60 0 0 49 7 12.5 PLTP 0 genome.wustl.edu 37 20 44540136 44540136 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 44540136 44540136 A G SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.16 p.S6P 0.000 NULL pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 36 0 0 41 4 8.88889 SLC2A10 0 genome.wustl.edu 37 20 45354455 45354455 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 45354455 45354455 C A SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known silent c.780 p.S260 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 207 1 0.480769 131 37 22.0238 STAU1 0 genome.wustl.edu 37 20 47770494 47770494 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 47770494 47770494 A G SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.320 p.M107T 1.000 smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 70 0 0 60 6 9.09091 ADNP 0 genome.wustl.edu 37 20 49509194 49509194 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 49509194 49509194 T G SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.2057 p.H686P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 125 0 0 98 9 8.41121 NFATC2 0 genome.wustl.edu 37 20 50159030 50159030 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 50159030 50159030 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known silent c.9 p.A3 0.996 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 32 0 0 36 3 7.69231 SALL4 0 genome.wustl.edu 37 20 50405478 50405478 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 50405478 50405478 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.2664 p.H888 0.964 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 91 0 0 67 20 22.9885 CYP24A1 0 genome.wustl.edu 37 20 52773992 52773992 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 52773992 52773992 C T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.1369 p.V457I 0.058 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_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 99 0 0 52 11 17.4603 LAMA5 0 genome.wustl.edu 37 20 60921821 60921821 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 60921821 60921821 A T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1108 p.Y370N 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 22 0 0 28 5 15.1515 EEF1A2 0 genome.wustl.edu 37 20 62120306 62120306 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62120306 62120306 A G SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.1229 p.M410T 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 47 0 0 32 7 17.9487 ZNF512B 0 genome.wustl.edu 37 20 62597524 62597524 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62597524 62597524 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.1004 p.R335H 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 99 0 0 73 17 18.8889 OPRL1 0 genome.wustl.edu 37 20 62729949 62729949 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62729949 62729949 T G SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.910 p.C304G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 75 0 0 70 4 5.40541 MYT1 0 genome.wustl.edu 37 20 62871174 62871174 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 62871174 62871174 A C SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.3236 p.Q1079P 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 164 0 0 115 32 21.7687 TMPRSS15 0 genome.wustl.edu 37 21 19715873 19715873 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 19715873 19715873 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1378 p.D460N 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 47 0 0 37 5 11.9048 LTN1 0 genome.wustl.edu 37 21 30316743 30316743 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 30316743 30316743 A T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.4082 p.I1361N 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 81 0 0 55 8 12.6984 USP16 0 genome.wustl.edu 37 21 30409707 30409707 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 30409707 30409707 A G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.559 p.M187V 0.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 68 0 0 58 10 14.7059 USP16 0 genome.wustl.edu 37 21 30419304 30419304 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 30419304 30419304 A G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.1673 p.N558S 0.996 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 97 0 0 64 15 18.9873 TIAM1 0 genome.wustl.edu 37 21 32589954 32589954 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 32589954 32589954 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.2057 p.A686V 0.974 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 128 0 0 93 27 22.5 SCAF4 0 genome.wustl.edu 37 21 33065711 33065711 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 33065711 33065711 C T SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1409 p.R470H 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 87 0 0 53 12 18.4615 HUNK 0 genome.wustl.edu 37 21 33297021 33297021 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 33297021 33297021 G A SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.503 p.R168Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 167 0 0 114 34 22.973 TMEM50B 0 genome.wustl.edu 37 21 34839404 34839404 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 34839404 34839404 A T SNP TMEM50B ENST00000420455 human ensembl 74_37 -1 known missense c.125 p.I42N 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 80 0 0 50 7 12.2807 CLDN14 0 genome.wustl.edu 37 21 37833792 37833792 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 37833792 37833792 G T SNP CLDN14 ENST00000342108 human ensembl 74_37 -1 known silent c.202 p.R68 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14,prints_Claudin,prints_Claudin2 - no_errors CLDN14 HGNC ENSG00000159261 73 0 0 41 13 24.0741 TTC3 0 genome.wustl.edu 37 21 38569989 38569989 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 38569989 38569989 A C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.5698 p.K1900Q 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 32 0 0 16 5 23.8095 SH3BGR 0 genome.wustl.edu 37 21 40824066 40824066 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 40824066 40824066 C T SNP SH3BGR ENST00000333634 human ensembl 74_37 +1 known missense c.233 p.A78V 1.000 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGR HGNC ENSG00000185437 227 0 0 182 14 7.14286 IGSF5 0 genome.wustl.edu 37 21 41173190 41173190 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 41173190 41173190 G A SNP IGSF5 ENST00000380588 human ensembl 74_37 +1 novel missense c.1130 p.R377Q 0.021 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF5 HGNC ENSG00000183067 37 0 0 27 4 12.9032 BACE2 0 genome.wustl.edu 37 21 42647438 42647438 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 42647438 42647438 A G SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.1444 p.I482V 0.825 prints_Pept_A1_BACE,prints_Pept_A1_BACE1 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 71 0 0 53 5 8.62069 TMPRSS2 0 genome.wustl.edu 37 21 42866320 42866320 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 42866320 42866320 C T SNP TMPRSS2 ENST00000398585 human ensembl 74_37 -1 known silent c.312 p.T104 0.143 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS2 HGNC ENSG00000184012 89 0 0 57 12 17.3913 UMODL1 0 genome.wustl.edu 37 21 43529725 43529725 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43529725 43529725 T C SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.1573 p.C525R 0.873 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 126 0 0 98 23 19.0083 ABCG1 0 genome.wustl.edu 37 21 43697008 43697008 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43697008 43697008 T C SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.979 p.S327P 0.953 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 156 0 0 104 28 21.2121 ABCG1 0 genome.wustl.edu 37 21 43710184 43710184 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43710184 43710184 T G SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1723 p.S575A 0.996 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 113 0 0 63 25 28.4091 SLC37A1 0 genome.wustl.edu 37 21 43962555 43962555 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 43962555 43962555 C T SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known silent c.528 p.V176 0.676 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 52 0 0 26 10 27.7778 TSPEAR 0 genome.wustl.edu 37 21 45929123 45929123 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 45929123 45929123 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.1713 p.T571 0.470 NULL pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 59 0 0 33 6 15.3846 KRTAP10-8 0 genome.wustl.edu 37 21 46032513 46032513 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 46032513 46032513 T C SNP KRTAP10-8 ENST00000334662 human ensembl 74_37 +1 known missense c.496 p.C166R 0.056 NULL pfam_KRTAP_PMG - no_errors KRTAP10-8 HGNC ENSG00000187766 382 0 0 296 37 11.1111 PTTG1IP 0 genome.wustl.edu 37 21 46276178 46276178 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 46276178 46276178 G A SNP PTTG1IP ENST00000330938 human ensembl 74_37 -1 known missense c.379 p.R127W 0.314 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 111 0 0 81 12 12.9032 SLC19A1 0 genome.wustl.edu 37 21 46951980 46951980 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 46951980 46951980 C T SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 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 78 0 0 78 6 7.14286 LSS 0 genome.wustl.edu 37 21 47648418 47648418 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 47648418 47648418 G T SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.110 p.T37N 0.636 NULL pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 42 0 0 36 4 10 SLC25A1 0 genome.wustl.edu 37 22 19164421 19164421 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 19164421 19164421 T C SNP SLC25A1 ENST00000215882 human ensembl 74_37 -1 known missense c.569 p.K190R 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 SLC25A1 HGNC ENSG00000100075 107 0 0 64 17 20.9877 C22orf29 0 genome.wustl.edu 37 22 19839744 19839744 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 19839744 19839744 G T SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known missense c.41 p.P14H 0.002 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 150 0 0 128 22 14.6667 MED15 0 genome.wustl.edu 37 22 20920870 20920870 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 20920870 20920870 A G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.807 p.P269 0.002 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 130 0 0 102 10 8.92857 MED15 0 genome.wustl.edu 37 22 20920873 20920873 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 20920873 20920873 T G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.810 p.I270M 0.010 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 134 0 0 102 10 8.92857 LZTR1 0 genome.wustl.edu 37 22 21347167 21347167 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 21347167 21347167 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1234 p.R412C 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 21 0 0 14 4 22.2222 SLC7A4 0 genome.wustl.edu 37 22 21384406 21384406 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 21384406 21384406 G A SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1217 p.A406V 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 39 0 0 38 6 13.6364 ADORA2A 0 genome.wustl.edu 37 22 24837129 24837129 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 24837129 24837129 G A SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.911 p.R304H 1.000 prints_Adeno_A2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 83 0 0 50 12 19.3548 RHBDD3 0 genome.wustl.edu 37 22 29656464 29656464 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 29656464 29656464 A G SNP RHBDD3 ENST00000216085 human ensembl 74_37 -1 known silent c.834 p.A278 0.000 NULL pfam_Peptidase_S54_rhomboid_dom,superfamily_UBA-like - no_errors RHBDD3 HGNC ENSG00000100263 21 0 0 12 5 29.4118 MYH9 0 genome.wustl.edu 37 22 36684892 36684892 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 36684892 36684892 T C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4651 p.T1551A 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 160 0 0 114 24 17.3913 C1QTNF6 0 genome.wustl.edu 37 22 37578513 37578513 + Silent SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 37578513 37578513 A C SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known silent c.552 p.A184 0.020 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 67 0 0 56 11 16.4179 ELFN2 0 genome.wustl.edu 37 22 37770353 37770353 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 37770353 37770353 T C SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1222 p.M408V 1.000 pfscan_LPXTG_anchor superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 124 0 0 109 24 18.0451 TRIOBP 0 genome.wustl.edu 37 22 38120107 38120107 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 38120107 38120107 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1544 p.T515I 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 198 0 0 158 22 12.2222 TRIOBP 0 genome.wustl.edu 37 22 38155263 38155263 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 38155263 38155263 A T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.6316 p.I2106F 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 124 0 0 80 18 18.3673 SUN2 0 genome.wustl.edu 37 22 39132304 39132304 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 39132304 39132304 G A SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.2122 p.R708C 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 92 0 0 71 15 17.4419 NPTXR 0 genome.wustl.edu 37 22 39222542 39222542 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 39222542 39222542 G A SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.1061 p.A354V 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 147 0 0 107 27 20.1493 CBX7 0 genome.wustl.edu 37 22 39537389 39537389 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 39537389 39537389 C T SNP CBX7 ENST00000216133 human ensembl 74_37 -1 known missense c.166 p.A56T 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX7 HGNC ENSG00000100307 26 0 0 22 5 18.5185 ENTHD1 0 genome.wustl.edu 37 22 40161237 40161237 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 40161237 40161237 T C SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1210 p.T404A 0.001 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 16 0 0 13 4 23.5294 EP300 0 genome.wustl.edu 37 22 41574565 41574565 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 41574565 41574565 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.6850 p.M2284V 1.000 NULL 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 140 0 0 113 10 8.13008 ARFGAP3 0 genome.wustl.edu 37 22 43203153 43203153 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 43203153 43203153 C T SNP ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known missense c.1337 p.R446H 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 22 0 0 15 4 21.0526 TSPO 0 genome.wustl.edu 37 22 43558871 43558871 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 43558871 43558871 G A SNP TSPO ENST00000396265 human ensembl 74_37 +1 known missense c.103 p.G35S 0.004 NULL NULL - no_errors TSPO HGNC ENSG00000100300 19 0 0 2 2 50 CRELD2 0 genome.wustl.edu 37 22 50312905 50312905 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50312905 50312905 T G SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.157 p.F53V 1.000 pfam_DUF3456 pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 136 0 0 85 27 24.1071 CRELD2 0 genome.wustl.edu 37 22 50316962 50316962 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50316962 50316962 G A SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.916 p.E306K 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Furin_repeat pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 35 0 0 27 3 10 TUBGCP6 0 genome.wustl.edu 37 22 50660956 50660956 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50660956 50660956 A T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.2336 p.L779Q 0.987 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 81 0 0 60 16 21.0526 PLXNB2 0 genome.wustl.edu 37 22 50718156 50718156 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50718156 50718156 T C SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4292 p.Q1431R 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 264 0 0 191 19 9.04762 DENND6B 0 genome.wustl.edu 37 22 50754805 50754805 + Nonsense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50754805 50754805 C A SNP DENND6B ENST00000413817 human ensembl 74_37 -1 known nonsense c.553 p.E185* 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 16 0 0 5 5 50 SBF1 0 genome.wustl.edu 37 22 50900005 50900005 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50900005 50900005 A C SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.2786 p.V929G 1.000 pfam_GRAM,smart_GRAM pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 53 0 0 29 10 25.641 LMF2 0 genome.wustl.edu 37 22 50943866 50943866 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50943866 50943866 A G SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.1017 p.V339 0.095 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 184 0 0 118 40 25.3165 CPT1B 0 genome.wustl.edu 37 22 51013014 51013014 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 51013014 51013014 T C SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.793 p.K265E 0.962 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 197 0 0 129 34 20.8589 FANCD2 0 genome.wustl.edu 37 3 10133910 10133910 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10133910 10133910 T C SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.3823 p.F1275L 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 250 0 0 168 36 17.6471 ZBTB11 0 genome.wustl.edu 37 3 101383941 101383941 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 101383941 101383941 C T SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.1490 p.G497D 0.006 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 224 0 0 139 34 19.6532 BRK1 0 genome.wustl.edu 37 3 10167974 10167974 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10167974 10167974 A G SNP BRK1 ENST00000256463 human ensembl 74_37 +1 known splice_site c.222+1 e3+1 1.000 - - - no_errors BRK1 HGNC ENSG00000254999 12 0 0 5 5 50 TATDN2 0 genome.wustl.edu 37 3 10290943 10290943 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10290943 10290943 C A SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.59 p.P20H 0.865 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 131 0 0 89 29 24.5763 TATDN2 0 genome.wustl.edu 37 3 10291294 10291294 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 10291294 10291294 T G SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.410 p.L137R 0.999 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 65 0 0 46 7 13.2075 SLC9C1 0 genome.wustl.edu 37 3 111936299 111936299 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 111936299 111936299 C A SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.1780 p.G594C 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 66 0 0 56 7 11.1111 SLC35A5 0 genome.wustl.edu 37 3 112299704 112299704 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 112299704 112299704 A G SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known missense c.740 p.N247S 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 86 0 0 48 12 20 TIMMDC1 0 genome.wustl.edu 37 3 119222827 119222827 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 119222827 119222827 A G SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.476 p.Y159C 1.000 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 68 0 0 49 9 15.5172 DIRC2 0 genome.wustl.edu 37 3 122552268 122552268 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 122552268 122552268 C T SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known missense c.808 p.R270W 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 137 0 0 111 6 5.12821 SEC22A 0 genome.wustl.edu 37 3 122944101 122944101 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 122944101 122944101 A G SNP SEC22A ENST00000309934 human ensembl 74_37 +1 known silent c.498 p.S166 1.000 NULL superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22A HGNC ENSG00000121542 175 0 0 136 17 11.1111 CCDC37 0 genome.wustl.edu 37 3 126138588 126138588 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 126138588 126138588 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known silent c.843 p.S281 0.002 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 83 0 0 57 17 22.973 PODXL2 0 genome.wustl.edu 37 3 127390319 127390319 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 127390319 127390319 C T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known missense c.1468 p.R490W 0.909 pfam_CD34/Podocalyxin pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 134 0 0 86 20 18.8679 COL6A6 0 genome.wustl.edu 37 3 130285992 130285992 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 130285992 130285992 C A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.1729 p.Q577K 0.009 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 149 0 0 111 16 12.5984 ACKR4 0 genome.wustl.edu 37 3 132320091 132320091 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 132320091 132320091 G A SNP ACKR4 ENST00000249887 human ensembl 74_37 +1 known missense c.850 p.A284T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR4 HGNC ENSG00000129048 199 0 0 165 13 7.30337 EPHB1 0 genome.wustl.edu 37 3 134670658 134670658 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 134670658 134670658 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.569 p.R190H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 315 0 0 235 16 6.3745 XPC 0 genome.wustl.edu 37 3 14200186 14200186 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 14200186 14200186 G A SNP XPC ENST00000285021 human ensembl 74_37 -1 known silent c.1197 p.S399 0.000 tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 205 0 0 160 15 8.57143 PAQR9 0 genome.wustl.edu 37 3 142681230 142681230 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 142681230 142681230 A G SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.949 p.F317L 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 150 0 0 141 13 8.44156 C3orf58 0 genome.wustl.edu 37 3 143691559 143691559 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 143691559 143691559 G A SNP C3orf58 ENST00000315691 human ensembl 74_37 +1 known missense c.385 p.A129T 1.000 NULL NULL - no_errors C3orf58 HGNC ENSG00000181744 30 0 0 22 7 24.1379 CCDC174 0 genome.wustl.edu 37 3 14712474 14712474 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 14712474 14712474 C T SNP CCDC174 ENST00000383794 human ensembl 74_37 +1 known missense c.1177 p.P393S 1.000 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 44 0 0 41 14 25.4545 TM4SF1 0 genome.wustl.edu 37 3 149095199 149095199 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 149095199 149095199 A G SNP TM4SF1 ENST00000305366 human ensembl 74_37 -1 known missense c.136 p.F46L 0.926 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 39 0 0 39 6 13.3333 FGD5 0 genome.wustl.edu 37 3 14940282 14940282 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 14940282 14940282 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3103 p.R1035W 0.993 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 9 0 0 7 4 36.3636 MED12L 0 genome.wustl.edu 37 3 150804783 150804783 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 150804783 150804783 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.70 p.V24I 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 29 0 0 15 5 25 AADAC 0 genome.wustl.edu 37 3 151545749 151545749 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 151545749 151545749 G A SNP AADAC ENST00000232892 human ensembl 74_37 +1 known missense c.989 p.R330H 0.000 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 90 0 0 55 16 22.5352 ARHGEF26 0 genome.wustl.edu 37 3 153840069 153840069 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 153840069 153840069 G A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.288 p.T96 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 34 0 0 32 10 23.8095 RFTN1 0 genome.wustl.edu 37 3 16475359 16475359 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 16475359 16475359 T A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known nonsense c.331 p.R111* 1.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 360 0 0 262 58 18.125 WDR49 0 genome.wustl.edu 37 3 167248983 167248983 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 167248983 167248983 T A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1082 p.N361I 0.001 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 119 0 0 70 8 10.2564 PLD1 0 genome.wustl.edu 37 3 171452687 171452687 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 171452687 171452687 T A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.508 p.M170L 0.152 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 162 0 0 106 16 13.1148 ALG3 0 genome.wustl.edu 37 3 183966533 183966533 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 183966533 183966533 A G SNP ALG3 ENST00000397676 human ensembl 74_37 -1 known missense c.196 p.Y66H 1.000 pfam_Glycosyltransferase_ALG3 pfam_Glycosyltransferase_ALG3 - no_errors ALG3 HGNC ENSG00000214160 50 0 0 42 12 22.2222 PSMD2 0 genome.wustl.edu 37 3 184018161 184018161 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 184018161 184018161 C A SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.286 p.L96I 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 120 0 0 82 18 18 LIPH 0 genome.wustl.edu 37 3 185252634 185252634 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 185252634 185252634 A G SNP LIPH ENST00000296252 human ensembl 74_37 -1 known silent c.336 p.A112 0.964 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 107 0 0 72 5 6.49351 KNG1 0 genome.wustl.edu 37 3 186437926 186437926 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 186437926 186437926 C T SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known silent c.228 p.Y76 0.985 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 79 0 0 68 7 9.33333 MASP1 0 genome.wustl.edu 37 3 186953746 186953746 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 186953746 186953746 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1913 p.S638L 0.964 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 79 0 0 51 19 27.1429 GP5 0 genome.wustl.edu 37 3 194117442 194117442 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 194117442 194117442 A G SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.1570 p.F524L 0.579 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 302 0 0 195 40 17.0213 KCNH8 0 genome.wustl.edu 37 3 19575438 19575438 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 19575438 19575438 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3171 p.Q1057H 0.819 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 83 0 0 55 13 19.1176 PAK2 0 genome.wustl.edu 37 3 196530020 196530020 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 196530020 196530020 A G SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.421 p.S141G 1.000 superfamily_WASP_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 82 0 0 60 15 20 PIGZ 0 genome.wustl.edu 37 3 196678828 196678828 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 196678828 196678828 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known nonsense c.75 p.W25* 0.002 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 48 0 0 32 5 13.5135 TRANK1 0 genome.wustl.edu 37 3 36873242 36873242 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 36873242 36873242 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7700 p.L2567P 0.984 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 85 0 0 80 13 13.9785 SCN5A 0 genome.wustl.edu 37 3 38592986 38592986 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 38592986 38592986 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4877 p.R1626H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 159 0 0 126 31 19.7452 SCN5A 0 genome.wustl.edu 37 3 38674719 38674719 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 38674719 38674719 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.80 p.R27H 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 55 0 0 33 4 10.8108 SEC22C 0 genome.wustl.edu 37 3 42605033 42605033 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 42605033 42605033 A G SNP SEC22C ENST00000264454 human ensembl 74_37 -1 known missense c.328 p.Y110H 0.992 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22C HGNC ENSG00000093183 96 0 0 74 6 7.5 KIAA1143 0 genome.wustl.edu 37 3 44803035 44803035 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 44803035 44803035 G A SNP KIAA1143 ENST00000296121 human ensembl 74_37 -1 known silent c.60 p.R20 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 67 0 0 53 8 13.1148 TGM4 0 genome.wustl.edu 37 3 44945444 44945444 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 44945444 44945444 A G SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known missense c.1040 p.Q347R 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 205 0 0 128 33 20.4969 KIF9 0 genome.wustl.edu 37 3 47284551 47284551 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 47284551 47284551 G A SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1699 p.R567C 0.122 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 55 0 0 51 10 16.3934 SMARCC1 0 genome.wustl.edu 37 3 47742848 47742848 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 47742848 47742848 T A SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1085 p.D362V 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 83 0 0 45 9 16.6667 FBXW12 0 genome.wustl.edu 37 3 48436037 48436037 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48436037 48436037 T C SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known silent c.1308 p.S436 0.000 NULL pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 63 0 0 56 7 11.1111 PLXNB1 0 genome.wustl.edu 37 3 48456363 48456363 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48456363 48456363 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4054 p.R1352W 0.802 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 150 0 0 97 22 18.4874 ATRIP 0 genome.wustl.edu 37 3 48500804 48500804 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48500804 48500804 G A SNP ATRIP ENST00000320211 human ensembl 74_37 +1 known silent c.876 p.E292 0.000 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 65 0 0 37 10 21.2766 ATRIP 0 genome.wustl.edu 37 3 48506423 48506423 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48506423 48506423 A G SNP ATRIP ENST00000320211 human ensembl 74_37 +1 known missense c.2249 p.Q750R 1.000 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 103 0 0 69 19 21.5909 COL7A1 0 genome.wustl.edu 37 3 48629533 48629533 + Splice_Site SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 48629533 48629533 A T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known splice_site c.1240+2 e9+2 1.000 - - - no_errors COL7A1 HGNC ENSG00000114270 260 0 0 177 20 10.1523 QARS 0 genome.wustl.edu 37 3 49137627 49137627 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 49137627 49137627 A T SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1160 p.F387Y 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 87 0 0 64 10 13.5135 CAMKV 0 genome.wustl.edu 37 3 49899281 49899281 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 49899281 49899281 A G SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.245 p.I82T 1.000 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_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 CAMKV HGNC ENSG00000164076 52 0 0 41 3 6.81818 RBM5 0 genome.wustl.edu 37 3 50142567 50142567 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 50142567 50142567 A G SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.686 p.Y229C 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 RBM5 HGNC ENSG00000003756 62 0 0 43 3 6.52174 NPRL2 0 genome.wustl.edu 37 3 50386152 50386152 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 50386152 50386152 T G SNP NPRL2 ENST00000232501 human ensembl 74_37 -1 known missense c.647 p.E216A 1.000 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC ENSG00000114388 86 0 0 72 4 5.26316 DOCK3 0 genome.wustl.edu 37 3 51418535 51418535 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 51418535 51418535 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.5638 p.G1880S 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 177 0 0 124 23 15.6463 RBM15B 0 genome.wustl.edu 37 3 51431408 51431408 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 51431408 51431408 G A SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.2578 p.D860N 1.000 superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 92 0 0 62 24 27.907 DNAH1 0 genome.wustl.edu 37 3 52416377 52416377 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52416377 52416377 A G SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.7847 p.Y2616C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 248 0 0 193 19 8.96226 NISCH 0 genome.wustl.edu 37 3 52491936 52491936 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52491936 52491936 T C SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.171 p.H57 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 198 0 0 168 9 5.08475 STAB1 0 genome.wustl.edu 37 3 52557042 52557042 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 52557042 52557042 T G SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6912 p.D2304E 0.880 superfamily_C-type_lectin_fold,superfamily_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 173 0 0 109 20 15.5039 WNT5A 0 genome.wustl.edu 37 3 55504442 55504442 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 55504442 55504442 G A SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.821 p.A274V 0.997 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 35 0 0 21 7 25 ERC2 0 genome.wustl.edu 37 3 56207547 56207547 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 56207547 56207547 T G SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1076 p.E359A 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 79 0 0 50 8 13.7931 MAGI1 0 genome.wustl.edu 37 3 65342509 65342509 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 65342509 65342509 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known silent c.3933 p.R1311 0.005 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 111 0 0 81 19 19 GPR27 0 genome.wustl.edu 37 3 71804120 71804120 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 71804120 71804120 G A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.920 p.R307Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 61 0 0 58 5 7.93651 ROBO1 0 genome.wustl.edu 37 3 78667090 78667090 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 78667090 78667090 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3977 p.A1326V 0.909 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 90 0 0 71 5 6.57895 VGLL3 0 genome.wustl.edu 37 3 87018160 87018160 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 87018160 87018160 T C SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.517 p.T173A 0.997 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 147 0 0 106 20 15.873 EPHA6 0 genome.wustl.edu 37 3 96533505 96533505 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 96533505 96533505 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.38 p.P13L 0.978 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 86 0 0 57 10 14.9254 OR5H14 0 genome.wustl.edu 37 3 97869016 97869016 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 97869016 97869016 G A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.787 p.A263T 0.049 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 OR5H14 HGNC ENSG00000236032 44 0 0 24 7 22.5806 IL17RC 0 genome.wustl.edu 37 3 9959028 9959028 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 9959028 9959028 T A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known nonsense c.29 p.L10* 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 78 0 0 50 5 9.09091 SLC9B1 0 genome.wustl.edu 37 4 103870469 103870469 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 103870469 103870469 T C SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known silent c.327 p.G109 0.173 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 101 0 0 69 23 25 ALPK1 0 genome.wustl.edu 37 4 113351686 113351686 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 113351686 113351686 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.983 p.A328V 1.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 73 0 0 51 4 7.27273 C4orf21 0 genome.wustl.edu 37 4 113475112 113475112 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 113475112 113475112 C T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.5225 p.S1742N 0.641 superfamily_P-loop_NTPase pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 92 0 0 76 8 9.52381 ZNF718 0 genome.wustl.edu 37 4 124619 124619 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 124619 124619 C T SNP ZNF718 ENST00000511079 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF718 HGNC ENSG00000250312 144 0 0 101 22 17.8862 NKX3-2 0 genome.wustl.edu 37 4 13543850 13543850 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 13543850 13543850 G A SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.769 p.R257C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 23 0 0 19 4 17.3913 BOD1L1 0 genome.wustl.edu 37 4 13606035 13606035 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 13606035 13606035 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.2489 p.R830H 0.624 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 43 0 0 22 5 18.5185 SETD7 0 genome.wustl.edu 37 4 140468077 140468077 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 140468077 140468077 C T SNP SETD7 ENST00000274031 human ensembl 74_37 -1 known missense c.167 p.G56D 1.000 pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom - no_errors SETD7 HGNC ENSG00000145391 161 0 0 109 7 6.03448 IL15 0 genome.wustl.edu 37 4 142643156 142643156 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 142643156 142643156 A G SNP IL15 ENST00000296545 human ensembl 74_37 +1 known missense c.190 p.I64V 1.000 pfam_IL-15/IL-21_fam,prints_IL-15_mml pfam_IL-15/IL-21_fam,prints_IL-15_mml,prints_IL-15 - no_errors IL15 HGNC ENSG00000164136 59 0 0 51 15 22.7273 USP38 0 genome.wustl.edu 37 4 144135652 144135652 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 144135652 144135652 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known silent c.2523 p.L841 0.890 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 102 0 0 70 16 18.6047 ARHGAP10 0 genome.wustl.edu 37 4 148800405 148800405 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 148800405 148800405 T A SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known missense c.855 p.S285R 0.994 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 149 0 0 101 20 16.5289 NR3C2 0 genome.wustl.edu 37 4 149115967 149115967 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 149115967 149115967 A G SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.1956 p.D652 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 91 0 0 57 4 6.55738 MAB21L2 0 genome.wustl.edu 37 4 151504263 151504263 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 151504263 151504263 G A SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.82 p.A28T 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 46 0 0 37 6 13.9535 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 245 0 0 150 31 17.1271 FHDC1 0 genome.wustl.edu 37 4 153897640 153897640 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 153897640 153897640 A T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.3197 p.Q1066L 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 129 0 0 91 16 14.9533 CC2D2A 0 genome.wustl.edu 37 4 15539567 15539567 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 15539567 15539567 G A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.1810 p.G604S 0.612 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 19 0 0 22 4 15.3846 NPY2R 0 genome.wustl.edu 37 4 156136004 156136004 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 156136004 156136004 C T SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.913 p.L305F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 78 0 0 54 18 25 TLL1 0 genome.wustl.edu 37 4 166795224 166795224 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 166795224 166795224 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.168 p.A56 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 259 0 0 164 47 22.2749 DDX60L 0 genome.wustl.edu 37 4 169294890 169294890 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 169294890 169294890 A G SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.4703 p.V1568A 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 211 1 0.471698 206 12 5.50459 SH3RF1 0 genome.wustl.edu 37 4 170077694 170077694 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170077694 170077694 T C SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.530 p.N177S 0.077 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 189 0 0 129 37 22.2892 NEK1 0 genome.wustl.edu 37 4 170523229 170523229 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170523229 170523229 T C SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.144 p.S48 0.996 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_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 NEK1 HGNC ENSG00000137601 107 0 0 75 19 20.2128 C4orf27 0 genome.wustl.edu 37 4 170674860 170674860 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170674860 170674860 A G SNP C4orf27 ENST00000393381 human ensembl 74_37 -1 known missense c.175 p.F59L 1.000 NULL pfam_DUF2228_C2H2_APLF-like - no_errors C4orf27 HGNC ENSG00000056050 33 0 0 31 4 11.4286 TACC3 0 genome.wustl.edu 37 4 1730092 1730092 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 1730092 1730092 A T SNP TACC3 ENST00000313288 human ensembl 74_37 +1 known missense c.963 p.E321D 0.013 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 66 0 0 49 16 24.6154 ASB5 0 genome.wustl.edu 37 4 177142692 177142692 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 177142692 177142692 A T SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.444 p.S148R 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 90 0 0 65 11 14.4737 IRF2 0 genome.wustl.edu 37 4 185320161 185320161 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 185320161 185320161 T G SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.602 p.Q201P 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 103 0 0 65 9 12.1622 LRP2BP 0 genome.wustl.edu 37 4 186299233 186299233 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 186299233 186299233 A G SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known splice_site c.106+2 e1+2 0.934 - - - no_errors LRP2BP HGNC ENSG00000109771 57 0 0 40 6 13.0435 MTNR1A 0 genome.wustl.edu 37 4 187454960 187454960 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 187454960 187454960 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.936 p.S312 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 176 0 0 126 29 18.7097 FAT1 0 genome.wustl.edu 37 4 187539921 187539921 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 187539921 187539921 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.7819 p.S2607P 0.939 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 64 0 0 30 6 16.6667 WHSC1 0 genome.wustl.edu 37 4 1957069 1957069 + Splice_Site SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 1957069 1957069 T C SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known splice_site c.2518+2 e12+2 1.000 - - - no_errors WHSC1 HGNC ENSG00000109685 29 0 0 25 6 19.3548 ZFYVE28 0 genome.wustl.edu 37 4 2306283 2306283 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 2306283 2306283 T C SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1784 p.Y595C 0.015 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 53 0 0 40 11 21.5686 CCDC149 0 genome.wustl.edu 37 4 24839015 24839015 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 24839015 24839015 G A SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known missense c.497 p.S166F 0.604 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 85 0 0 60 17 22.0779 FAM193A 0 genome.wustl.edu 37 4 2695450 2695450 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 2695450 2695450 T C SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.2068 p.S690P 0.951 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 262 0 0 202 23 10.2222 ADD1 0 genome.wustl.edu 37 4 2877675 2877675 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 2877675 2877675 C A SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known silent c.33 p.T11 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 138 0 0 129 12 8.51064 ARAP2 0 genome.wustl.edu 37 4 36083891 36083891 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 36083891 36083891 T C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4526 p.Y1509C 0.929 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 22 0 0 16 3 15.7895 RFC1 0 genome.wustl.edu 37 4 39293381 39293381 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 39293381 39293381 C T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.3049 p.G1017R 1.000 pfam_DNA_replication_fac_RFC1_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 96 0 0 65 6 8.4507 OTOP1 0 genome.wustl.edu 37 4 4198949 4198949 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 4198949 4198949 C T SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.1612 p.A538T 0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 142 0 0 75 11 12.7907 PIGG 0 genome.wustl.edu 37 4 493128 493128 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 493128 493128 C T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.4 p.R2W 1.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 31 0 0 16 4 20 CLOCK 0 genome.wustl.edu 37 4 56316280 56316280 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 56316280 56316280 G A SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known silent c.1326 p.H442 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 76 0 0 49 17 25.7576 KIAA1211 0 genome.wustl.edu 37 4 57181595 57181595 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 57181595 57181595 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1927 p.G643S 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 53 0 0 27 5 15.625 KIAA1211 0 genome.wustl.edu 37 4 57181887 57181887 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 57181887 57181887 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2219 p.T740M 0.018 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 122 0 0 93 6 6.06061 CRMP1 0 genome.wustl.edu 37 4 5838533 5838533 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 5838533 5838533 C T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1411 p.G471R 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 123 0 0 77 25 24.5098 JAKMIP1 0 genome.wustl.edu 37 4 6082017 6082017 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 6082017 6082017 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1124 p.A375V 0.715 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 43 0 0 40 7 14.8936 PPP2R2C 0 genome.wustl.edu 37 4 6325191 6325191 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 6325191 6325191 G A SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known silent c.1182 p.C394 0.983 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 75 0 0 56 4 6.66667 TMPRSS11D 0 genome.wustl.edu 37 4 68725389 68725389 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 68725389 68725389 G A SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known missense c.16 p.R6C 0.048 pirsf_Pept_S1A_HAT/DESC1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 65 0 0 32 11 25.5814 SDAD1 0 genome.wustl.edu 37 4 76878542 76878542 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 76878542 76878542 C T SNP SDAD1 ENST00000356260 human ensembl 74_37 -1 known missense c.1790 p.R597Q 1.000 pfam_SDA1_dom pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 99 0 0 72 8 10 SDAD1 0 genome.wustl.edu 37 4 76894534 76894534 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 76894534 76894534 G A SNP SDAD1 ENST00000356260 human ensembl 74_37 -1 known missense c.647 p.A216V 1.000 superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 103 0 0 73 15 17.0455 SORCS2 0 genome.wustl.edu 37 4 7714482 7714482 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 7714482 7714482 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.1891 p.R631C 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 82 0 0 54 16 22.8571 SHROOM3 0 genome.wustl.edu 37 4 77691990 77691990 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 77691990 77691990 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.5561 p.R1854H 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 173 0 0 132 39 22.807 SOWAHB 0 genome.wustl.edu 37 4 77817773 77817773 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 77817773 77817773 A G SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known silent c.1230 p.S410 0.971 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 166 0 0 100 19 15.9664 SH3TC1 0 genome.wustl.edu 37 4 8214443 8214443 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 8214443 8214443 T A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.263 p.L88Q 0.984 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 41 0 0 35 3 7.89474 WDFY3 0 genome.wustl.edu 37 4 85678302 85678302 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 85678302 85678302 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.5201 p.G1734D 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 93 0 0 84 8 8.69565 HERC3 0 genome.wustl.edu 37 4 89591035 89591035 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 89591035 89591035 C T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.1658 p.P553L 0.998 NULL 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 95 0 0 81 13 13.8298 GPRIN3 0 genome.wustl.edu 37 4 90170781 90170781 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 90170781 90170781 T C SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.481 p.T161A 0.002 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 140 0 0 103 25 19.5312 ATOH1 0 genome.wustl.edu 37 4 94751046 94751046 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 94751046 94751046 G A SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known silent c.969 p.V323 0.508 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 226 0 0 191 15 7.28155 SLC26A1 0 genome.wustl.edu 37 4 984935 984935 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 984935 984935 A G SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.557 p.L186P 0.479 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 39 0 0 49 7 12.5 SLC26A1 0 genome.wustl.edu 37 4 985155 985155 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 985155 985155 A G SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.337 p.F113L 0.996 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 255 1 0.390625 234 15 6.0241 TSPAN5 0 genome.wustl.edu 37 4 99397428 99397428 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 99397428 99397428 G A SNP TSPAN5 ENST00000305798 human ensembl 74_37 -1 known missense c.653 p.T218M 0.988 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 82 0 0 55 5 8.33333 SLC12A7 0 genome.wustl.edu 37 5 1081834 1081834 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 1081834 1081834 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1155 p.H385 0.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 93 0 0 82 8 8.88889 APC 0 genome.wustl.edu 37 5 112178969 112178969 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 112178969 112178969 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.7678 p.R2560* 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 130 0 0 89 10 10.101 TERT 0 genome.wustl.edu 37 5 1255506 1255506 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 1255506 1255506 T C SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.3053 p.Q1018R 0.917 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 73 0 0 45 7 13.4615 MEGF10 0 genome.wustl.edu 37 5 126774179 126774179 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 126774179 126774179 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.2153 p.C718Y 1.000 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 188 0 0 124 20 13.8889 MEGF10 0 genome.wustl.edu 37 5 126776437 126776437 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 126776437 126776437 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.2240 p.P747L 1.000 smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 161 0 0 125 30 19.3548 FBN2 0 genome.wustl.edu 37 5 127782174 127782174 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 127782174 127782174 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.952 p.D318Y 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 110 0 0 64 14 17.9487 SEPT8 0 genome.wustl.edu 37 5 132101190 132101190 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132101190 132101190 A G SNP SEPT8 ENST00000378719 human ensembl 74_37 -1 known missense c.62 p.L21P 0.966 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 312 1 0.319489 276 32 10.3896 FSTL4 0 genome.wustl.edu 37 5 132561501 132561501 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132561501 132561501 G A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known silent c.1026 p.V342 0.989 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 220 0 0 147 24 14.0351 FSTL4 0 genome.wustl.edu 37 5 132648366 132648366 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132648366 132648366 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.707 p.R236H 0.012 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 94 0 0 58 15 20.5479 CDKL3 0 genome.wustl.edu 37 5 133643944 133643944 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 133643944 133643944 C A SNP CDKL3 ENST00000265334 human ensembl 74_37 -1 known missense c.1249 p.G417C 0.000 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 CDKL3 HGNC ENSG00000006837 77 0 0 56 4 6.66667 BRD8 0 genome.wustl.edu 37 5 137504163 137504163 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 137504163 137504163 C A SNP BRD8 ENST00000230901 human ensembl 74_37 -1 known missense c.857 p.R286I 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 100 0 0 80 12 13.0435 PAIP2 0 genome.wustl.edu 37 5 138700371 138700371 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 138700371 138700371 A T SNP PAIP2 ENST00000265192 human ensembl 74_37 +1 known missense c.257 p.Q86L 1.000 NULL pfam_Ataxin-2_C - no_errors PAIP2 HGNC ENSG00000120727 77 0 0 50 12 19.3548 SLC35A4 0 genome.wustl.edu 37 5 139947625 139947625 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 139947625 139947625 G A SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known missense c.871 p.A291T 0.995 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 73 0 0 54 6 10 PCDHA1 0 genome.wustl.edu 37 5 140167575 140167575 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140167575 140167575 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1700 p.A567V 0.239 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 182 0 0 140 28 16.6667 PCDHA1 0 genome.wustl.edu 37 5 140167983 140167983 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140167983 140167983 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2108 p.A703D 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 130 0 0 125 10 7.40741 PCDHA8 0 genome.wustl.edu 37 5 140222026 140222026 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140222026 140222026 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1120 p.V374M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 197 0 0 153 30 16.3934 PCDHA10 0 genome.wustl.edu 37 5 140237173 140237173 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140237173 140237173 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1540 p.G514S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 243 0 0 174 29 14.2857 PCDHA12 0 genome.wustl.edu 37 5 140257217 140257217 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140257217 140257217 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2160 p.A720 0.026 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 63 0 0 58 10 14.7059 PCDHB1 0 genome.wustl.edu 37 5 140433152 140433152 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140433152 140433152 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.2097 p.S699 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 177 0 0 128 27 17.4194 PCDHB12 0 genome.wustl.edu 37 5 140589820 140589820 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140589820 140589820 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1341 p.N447 0.579 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 203 0 0 116 27 18.8811 PCDHGA3 0 genome.wustl.edu 37 5 140723859 140723859 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140723859 140723859 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.259 p.A87T 0.000 pfam_Cadherin_N,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 PCDHGA3 HGNC ENSG00000254245 157 0 0 90 25 21.7391 PCDHGA4 0 genome.wustl.edu 37 5 140736441 140736441 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140736441 140736441 T C SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.1674 p.N558 0.116 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 PCDHGA4 HGNC ENSG00000262576 330 0 0 293 21 6.6879 PCDHGA6 0 genome.wustl.edu 37 5 140753794 140753794 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140753794 140753794 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.144 p.I48 0.006 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 81 0 0 55 10 15.3846 PCDHGA6 0 genome.wustl.edu 37 5 140754512 140754512 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140754512 140754512 A G SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.862 p.I288V 0.826 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 PCDHGA6 HGNC ENSG00000253731 60 0 0 52 5 8.77193 PCDHGA7 0 genome.wustl.edu 37 5 140762853 140762853 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140762853 140762853 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.387 p.N129 0.177 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 112 0 0 73 20 21.5054 PCDHGA12 0 genome.wustl.edu 37 5 140810464 140810464 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 140810464 140810464 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.138 p.G46 0.068 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 213 0 0 189 16 7.80488 GPR151 0 genome.wustl.edu 37 5 145895251 145895251 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 145895251 145895251 G A SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known silent c.426 p.D142 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 140 0 0 89 7 7.29167 FBXO38 0 genome.wustl.edu 37 5 147813008 147813008 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 147813008 147813008 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.2675 p.R892H 0.996 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 106 0 0 67 8 10.6667 PDE6A 0 genome.wustl.edu 37 5 149247314 149247314 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 149247314 149247314 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2248 p.R750C 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 39 0 0 20 7 25.9259 MYOZ3 0 genome.wustl.edu 37 5 150050180 150050180 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 150050180 150050180 T G SNP MYOZ3 ENST00000297130 human ensembl 74_37 +1 known missense c.196 p.L66V 0.013 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ3 HGNC ENSG00000164591 23 0 0 18 10 35.7143 FAT2 0 genome.wustl.edu 37 5 150914046 150914046 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 150914046 150914046 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.9351 p.H3117 0.995 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 35 0 0 40 8 16.6667 TENM2 0 genome.wustl.edu 37 5 167642184 167642184 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 167642184 167642184 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.3985 p.V1329M 0.996 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 185 0 0 113 27 19.2857 SLIT3 0 genome.wustl.edu 37 5 168201356 168201356 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 168201356 168201356 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.1179 p.C393 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 342 0 0 222 46 17.1642 CLTB 0 genome.wustl.edu 37 5 175819794 175819794 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 175819794 175819794 T A SNP CLTB ENST00000310418 human ensembl 74_37 -1 known missense c.671 p.Q224L 1.000 pfam_Clathrin_L-chain pfam_Clathrin_L-chain,superfamily_RuBisCO_lsu_C - no_errors CLTB HGNC ENSG00000175416 189 0 0 150 15 9.09091 FGFR4 0 genome.wustl.edu 37 5 176518710 176518710 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176518710 176518710 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.628 p.V210M 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 76 0 0 49 12 19.6721 FGFR4 0 genome.wustl.edu 37 5 176520283 176520283 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176520283 176520283 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1202 p.R401H 0.003 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 94 0 0 71 15 17.4419 MXD3 0 genome.wustl.edu 37 5 176734602 176734602 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176734602 176734602 C G SNP MXD3 ENST00000439742 human ensembl 74_37 -1 known missense c.608 p.G203A 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 65 0 0 56 10 15.1515 SLC34A1 0 genome.wustl.edu 37 5 176824038 176824038 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 176824038 176824038 T A SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known missense c.1379 p.L460Q 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 50 0 0 47 4 7.84314 N4BP3 0 genome.wustl.edu 37 5 177548911 177548911 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 177548911 177548911 A G SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known missense c.1544 p.Y515C 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 29 0 0 33 8 19.5122 HNRNPAB 0 genome.wustl.edu 37 5 177636438 177636438 + Silent SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 177636438 177636438 T A SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known silent c.777 p.G259 0.021 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 82 0 0 58 13 18.3099 BTNL8 0 genome.wustl.edu 37 5 180376246 180376246 + Nonsense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 180376246 180376246 A T SNP BTNL8 ENST00000231229 human ensembl 74_37 +1 known nonsense c.973 p.R325* 0.025 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 73 0 0 61 7 10.2941 SDHA 0 genome.wustl.edu 37 5 256535 256535 + Nonstop_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 256535 256535 A G SNP SDHA ENST00000264932 human ensembl 74_37 +1 known nonstop c.1995 p.*665W 0.971 NULL pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 70 0 0 37 6 13.9535 FYB 0 genome.wustl.edu 37 5 39202748 39202748 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 39202748 39202748 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.345 p.A115 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 60 0 0 53 12 18.4615 PRKAA1 0 genome.wustl.edu 37 5 40771943 40771943 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 40771943 40771943 C T SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 137 0 0 105 13 11.0169 NIM1 0 genome.wustl.edu 37 5 43280273 43280273 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 43280273 43280273 C T SNP NIM1 ENST00000326035 human ensembl 74_37 +1 known silent c.753 p.Y251 0.499 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_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 NIM1 Uniprot_gn ENSG00000177453 128 0 0 89 9 9.18367 SKIV2L2 0 genome.wustl.edu 37 5 54654434 54654434 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 54654434 54654434 C T SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.1567 p.R523C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 47 0 0 33 6 15.3846 PDE4D 0 genome.wustl.edu 37 5 59064326 59064326 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 59064326 59064326 G A SNP PDE4D ENST00000507116 human ensembl 74_37 -1 known nonsense c.10 p.Q4* 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 184 0 0 139 29 17.2619 ERBB2IP 0 genome.wustl.edu 37 5 65320161 65320161 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 65320161 65320161 T C SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.700 p.Y234H 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 79 0 0 53 14 20.8955 PAPD7 0 genome.wustl.edu 37 5 6742670 6742670 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 6742670 6742670 C T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.326 p.T109M 1.000 pfam_Nucleotidyltransferase pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 100 0 0 62 13 17.3333 PIK3R1 0 genome.wustl.edu 37 5 67569270 67569270 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 67569270 67569270 G A SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known silent c.387 p.P129 0.002 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 324 1 0.307692 262 14 5.07246 BDP1 0 genome.wustl.edu 37 5 70808205 70808205 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 70808205 70808205 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4197 p.Q1399H 0.061 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 128 0 0 91 6 6.18557 TNPO1 0 genome.wustl.edu 37 5 72182911 72182911 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 72182911 72182911 G A SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1165 p.A389T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 231 0 0 175 26 12.9353 UTP15 0 genome.wustl.edu 37 5 72868365 72868365 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 72868365 72868365 T G SNP UTP15 ENST00000296792 human ensembl 74_37 +1 known missense c.725 p.V242G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 239 0 0 209 13 5.85586 SPZ1 0 genome.wustl.edu 37 5 79616966 79616966 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 79616966 79616966 G A SNP SPZ1 ENST00000296739 human ensembl 74_37 +1 known missense c.932 p.S311N 0.000 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 130 0 0 106 17 13.8211 RASA1 0 genome.wustl.edu 37 5 86628364 86628364 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 86628364 86628364 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.733 p.R245C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 78 0 0 55 12 17.9104 PCSK1 0 genome.wustl.edu 37 5 95734632 95734632 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 95734632 95734632 A C SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.1539 p.I513M 0.997 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 59 0 0 46 7 13.2075 LNPEP 0 genome.wustl.edu 37 5 96333777 96333777 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96333777 96333777 T C SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known silent c.1581 p.S527 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 57 0 0 52 5 8.77193 LIX1 0 genome.wustl.edu 37 5 96460266 96460266 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96460266 96460266 A G SNP LIX1 ENST00000274382 human ensembl 74_37 -1 known silent c.150 p.S50 1.000 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 99 0 0 77 7 8.33333 MAK 0 genome.wustl.edu 37 6 10764689 10764689 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 10764689 10764689 C T SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1868 p.R623Q 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 MAK HGNC ENSG00000111837 50 0 0 42 9 17.6471 GCM2 0 genome.wustl.edu 37 6 10874697 10874697 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 10874697 10874697 A C SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.1052 p.F351C 1.000 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 188 0 0 124 31 20 ARMC2 0 genome.wustl.edu 37 6 109286219 109286219 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 109286219 109286219 T A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.2322 p.D774E 0.982 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 205 0 0 181 14 7.17949 MICAL1 0 genome.wustl.edu 37 6 109767595 109767595 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 109767595 109767595 C G SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.2382 p.E794D 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 151 0 0 115 12 9.44882 SLC22A16 0 genome.wustl.edu 37 6 110763589 110763589 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 110763589 110763589 T C SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known silent c.1041 p.S347 0.006 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 137 0 0 112 14 11.1111 RFPL4B 0 genome.wustl.edu 37 6 112671149 112671149 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 112671149 112671149 T G SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.239 p.L80R 0.002 pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 48 0 0 28 7 20 GPRC6A 0 genome.wustl.edu 37 6 117127708 117127708 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 117127708 117127708 T G SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.1160 p.K387T 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 75 0 0 72 6 7.69231 FAM184A 0 genome.wustl.edu 37 6 119301423 119301423 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 119301423 119301423 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known silent c.2181 p.Q727 0.977 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 73 0 0 36 7 16.2791 NCOA7 0 genome.wustl.edu 37 6 126210258 126210258 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 126210258 126210258 A G SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.1058 p.K353R 0.981 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 152 0 0 116 16 12.1212 LAMA2 0 genome.wustl.edu 37 6 129621928 129621928 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 129621928 129621928 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known nonsense c.3085 p.R1029* 0.585 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 84 0 0 72 11 13.253 EPB41L2 0 genome.wustl.edu 37 6 131222276 131222276 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 131222276 131222276 C T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.974 p.R325H 1.000 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 153 0 0 81 14 14.7368 MED23 0 genome.wustl.edu 37 6 131915392 131915392 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 131915392 131915392 C T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3097 p.V1033I 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 117 0 0 61 18 22.7848 VNN3 0 genome.wustl.edu 37 6 133046036 133046036 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 133046036 133046036 T G SNP VNN3 ENST00000207771 human ensembl 74_37 -1 known missense c.909 p.E303D 0.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 120 0 0 103 10 8.84956 TBC1D7 0 genome.wustl.edu 37 6 13306757 13306757 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 13306757 13306757 A C SNP TBC1D7 ENST00000356436 human ensembl 74_37 -1 known missense c.668 p.V223G 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D7 HGNC ENSG00000145979 88 0 0 66 17 20.4819 EYA4 0 genome.wustl.edu 37 6 133783496 133783496 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 133783496 133783496 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.461 p.T154I 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 201 0 0 129 29 18.3544 TCF21 0 genome.wustl.edu 37 6 134210721 134210721 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 134210721 134210721 G A SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known silent c.186 p.A62 0.953 pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 54 0 0 45 17 27.4194 KIAA1244 0 genome.wustl.edu 37 6 138582702 138582702 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 138582702 138582702 A G SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.1143 p.G381 0.913 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 9 0 0 2 2 50 HIVEP2 0 genome.wustl.edu 37 6 143085999 143085999 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 143085999 143085999 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.5455 p.R1819C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 51 0 0 40 3 6.97674 PHACTR2 0 genome.wustl.edu 37 6 144081763 144081763 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 144081763 144081763 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.680 p.T227M 0.891 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 126 0 0 100 7 6.54206 AKAP12 0 genome.wustl.edu 37 6 151673958 151673958 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 151673958 151673958 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.4432 p.D1478N 0.002 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 128 0 0 68 26 27.6596 SNX9 0 genome.wustl.edu 37 6 158294203 158294203 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 158294203 158294203 G A SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known missense c.169 p.V57I 0.932 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Snx9,pfscan_SH3_domain pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 29 0 0 25 3 10.7143 TULP4 0 genome.wustl.edu 37 6 158735158 158735158 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 158735158 158735158 G T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.110 p.R37M 0.998 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 60 0 0 41 5 10.8696 MAP3K4 0 genome.wustl.edu 37 6 161470589 161470589 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 161470589 161470589 A T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1285 p.I429F 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 104 0 0 64 6 8.57143 MLLT4 0 genome.wustl.edu 37 6 168265375 168265375 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 168265375 168265375 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known nonsense c.250 p.R84* 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 222 0 0 161 36 18.2741 THBS2 0 genome.wustl.edu 37 6 169648548 169648548 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 169648548 169648548 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.573 p.Y191 0.999 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 200 0 0 156 12 7.14286 TBP 0 genome.wustl.edu 37 6 170871004 170871004 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 170871004 170871004 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.180 p.Q60 0.991 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 127 0 0 78 11 12.3596 LRRC16A 0 genome.wustl.edu 37 6 25600666 25600666 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 25600666 25600666 C T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel nonsense c.3244 p.R1082* 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 96 0 0 68 23 25.2747 LRRC16A 0 genome.wustl.edu 37 6 25600904 25600904 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 25600904 25600904 A G SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3482 p.Q1161R 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 27 0 0 15 5 25 C6orf195 0 genome.wustl.edu 37 6 2623926 2623926 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 2623926 2623926 G A SNP C6orf195 ENST00000296847 human ensembl 74_37 -1 known missense c.131 p.A44V 0.000 NULL NULL - no_errors C6orf195 HGNC ENSG00000164385 101 0 0 85 26 23.4234 BTN3A3 0 genome.wustl.edu 37 6 26448645 26448645 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 26448645 26448645 C T SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known silent c.885 p.Y295 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-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 BTN3A3 HGNC ENSG00000111801 53 0 0 53 16 23.1884 HIST1H2BM 0 genome.wustl.edu 37 6 27783154 27783154 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 27783154 27783154 C T SNP HIST1H2BM ENST00000359465 human ensembl 74_37 +1 known silent c.333 p.A111 0.965 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BM HGNC ENSG00000196374 102 0 0 60 17 22.0779 GABBR1 0 genome.wustl.edu 37 6 29591129 29591129 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 29591129 29591129 A G SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.916 p.W306R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 50 0 0 42 7 14.2857 HLA-G 0 genome.wustl.edu 37 6 29794819 29794819 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 29794819 29794819 A G SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known missense c.4 p.K2E 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 20 0 0 9 6 40 TRIM39 0 genome.wustl.edu 37 6 30309799 30309799 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30309799 30309799 A G SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known silent c.1320 p.A440 0.079 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 69 0 0 54 11 16.9231 PPP1R10 0 genome.wustl.edu 37 6 30576685 30576685 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30576685 30576685 A T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.201 p.I67 1.000 superfamily_TFIIS_N pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 86 0 0 65 8 10.9589 LY6G5C 0 genome.wustl.edu 37 6 31644849 31644849 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31644849 31644849 A G SNP LY6G5C ENST00000383237 human ensembl 74_37 -1 known missense c.338 p.M113T 0.022 NULL NULL - no_errors LY6G5C HGNC ENSG00000204428 124 0 0 121 14 10.3704 DDAH2 0 genome.wustl.edu 37 6 31696720 31696720 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31696720 31696720 C T SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known silent c.219 p.P73 0.988 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 86 0 0 68 20 22.7273 CFB 0 genome.wustl.edu 37 6 31918063 31918063 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 31918063 31918063 C T SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.3013 p.R1005C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 89 0 0 47 12 20.339 TNXB 0 genome.wustl.edu 37 6 32037370 32037370 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 32037370 32037370 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.5547 p.H1849 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 55 0 0 45 6 11.7647 TAP2 0 genome.wustl.edu 37 6 32805986 32805986 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 32805986 32805986 A G SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.25 p.W9R 1.000 tigrfam_Ag_transporter2 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,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 65 0 0 56 6 9.67742 RXRB 0 genome.wustl.edu 37 6 33166101 33166101 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33166101 33166101 G A SNP RXRB ENST00000374680 human ensembl 74_37 -1 known silent c.624 p.C208 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 276 1 0.361011 243 56 18.7291 TAPBP 0 genome.wustl.edu 37 6 33281098 33281098 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33281098 33281098 G T SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.365 p.A122D 0.464 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 84 0 0 66 15 18.5185 ZBTB22 0 genome.wustl.edu 37 6 33284315 33284315 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33284315 33284315 A G SNP ZBTB22 ENST00000418724 human ensembl 74_37 -1 known missense c.379 p.F127L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 176 1 0.564972 165 23 12.234 ITPR3 0 genome.wustl.edu 37 6 33643504 33643504 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33643504 33643504 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.3153 p.G1051 0.139 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 84 0 0 56 13 18.8406 ITPR3 0 genome.wustl.edu 37 6 33653883 33653883 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33653883 33653883 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.5721 p.T1907 0.930 pfam_RIH_assoc-dom,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 75 0 0 39 10 20.4082 PACSIN1 0 genome.wustl.edu 37 6 34498086 34498086 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 34498086 34498086 A G SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known silent c.855 p.R285 0.980 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 37 0 0 42 4 8.69565 SPDEF 0 genome.wustl.edu 37 6 34512099 34512099 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 34512099 34512099 G T SNP SPDEF ENST00000374037 human ensembl 74_37 -1 known missense c.134 p.P45H 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPDEF HGNC ENSG00000124664 94 0 0 58 7 10.7692 DUSP22 0 genome.wustl.edu 37 6 348269 348269 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 348269 348269 C A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.430 p.H144N 0.085 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 133 0 0 92 7 7.07071 TAF11 0 genome.wustl.edu 37 6 34850723 34850723 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 34850723 34850723 C T SNP TAF11 ENST00000361288 human ensembl 74_37 -1 known silent c.306 p.E102 1.000 NULL pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC ENSG00000064995 43 0 0 35 5 12.5 DEF6 0 genome.wustl.edu 37 6 35289041 35289041 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35289041 35289041 C T SNP DEF6 ENST00000316637 human ensembl 74_37 +1 known missense c.1750 p.R584C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 294 0 0 198 36 15.3846 PPARD 0 genome.wustl.edu 37 6 35393770 35393770 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35393770 35393770 G A SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.1240 p.A414T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 80 0 0 59 19 24.359 ARMC12 0 genome.wustl.edu 37 6 35704937 35704937 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35704937 35704937 G A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.52 p.V18I 0.035 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 88 0 0 47 19 28.7879 KCNK16 0 genome.wustl.edu 37 6 39284038 39284038 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39284038 39284038 G T SNP KCNK16 ENST00000437525 human ensembl 74_37 -1 known missense c.842 p.P281H 0.000 NULL pfam_2pore_dom_K_chnl_dom,pfam_Ion_trans_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK16 HGNC ENSG00000095981 9 0 0 7 3 30 KIF6 0 genome.wustl.edu 37 6 39304311 39304311 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39304311 39304311 A T SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.2442 p.N814K 0.792 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 93 0 0 75 20 21.0526 DAAM2 0 genome.wustl.edu 37 6 39864707 39864707 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39864707 39864707 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2461 p.R821W 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 DAAM2 HGNC ENSG00000146122 69 0 0 59 7 10.6061 DAAM2 0 genome.wustl.edu 37 6 39869787 39869787 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 39869787 39869787 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.3181 p.R1061W 0.998 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 66 0 0 46 7 13.2075 FOXP4 0 genome.wustl.edu 37 6 41557870 41557870 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 41557870 41557870 G A SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.1319 p.R440Q 0.995 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 90 0 0 74 16 17.7778 FOXP4 0 genome.wustl.edu 37 6 41565595 41565595 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 41565595 41565595 T A SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.1802 p.L601Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 29 0 0 16 4 20 TAF8 0 genome.wustl.edu 37 6 42034054 42034054 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 42034054 42034054 A G SNP TAF8 ENST00000372982 human ensembl 74_37 +1 known missense c.494 p.Y165C 1.000 pfam_TFIID_su8_C pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP - no_errors TAF8 HGNC ENSG00000137413 57 0 0 33 3 8.33333 SLC22A7 0 genome.wustl.edu 37 6 43267740 43267740 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43267740 43267740 C T SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.763 p.R255W 0.799 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 168 1 0.591716 117 19 13.9706 ABCC10 0 genome.wustl.edu 37 6 43412532 43412532 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43412532 43412532 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.2696 p.R899Q 0.858 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 149 0 0 103 32 23.7037 ABCC10 0 genome.wustl.edu 37 6 43415452 43415452 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43415452 43415452 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.3736 p.V1246M 0.090 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 512 0 0 355 108 23.3261 POLH 0 genome.wustl.edu 37 6 43581996 43581996 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 43581996 43581996 A C SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.1844 p.E615A 0.001 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 157 0 0 105 17 13.9344 CAPN11 0 genome.wustl.edu 37 6 44147858 44147858 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 44147858 44147858 A G SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.1598 p.D533G 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 71 0 0 39 16 29.0909 GPR116 0 genome.wustl.edu 37 6 46830807 46830807 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 46830807 46830807 C T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.2017 p.V673I 0.000 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 72 0 0 51 5 8.92857 PTCHD4 0 genome.wustl.edu 37 6 48036205 48036205 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 48036205 48036205 G A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.187 p.R63C 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 63 0 0 60 4 6.25 MUT 0 genome.wustl.edu 37 6 49403193 49403193 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 49403193 49403193 C T SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.2100 p.M700I 1.000 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 58 0 0 33 9 21.4286 DST 0 genome.wustl.edu 37 6 56391227 56391227 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 56391227 56391227 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.17968 p.R5990* 0.995 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 126 0 0 85 28 24.7788 DST 0 genome.wustl.edu 37 6 56392463 56392463 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 56392463 56392463 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17657 p.L5886R 0.801 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 41 0 0 31 4 11.4286 DST 0 genome.wustl.edu 37 6 56499277 56499277 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 56499277 56499277 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.3378 p.A1126 0.114 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 101 0 0 55 16 22.5352 EYS 0 genome.wustl.edu 37 6 66205064 66205064 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 66205064 66205064 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.240 p.L80 1.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 159 0 0 106 20 15.873 COL12A1 0 genome.wustl.edu 37 6 75892895 75892895 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 75892895 75892895 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1762 p.A588S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 78 0 0 71 10 12.3457 TTK 0 genome.wustl.edu 37 6 80732118 80732118 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 80732118 80732118 A T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.1186 p.I396F 0.007 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 TTK HGNC ENSG00000112742 89 0 0 65 19 22.619 IBTK 0 genome.wustl.edu 37 6 82933292 82933292 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 82933292 82933292 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.989 p.R330H 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 72 0 0 71 4 5.33333 DOPEY1 0 genome.wustl.edu 37 6 83849979 83849979 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 83849979 83849979 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.5272 p.R1758C 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 106 0 0 76 17 18.2796 ZNF292 0 genome.wustl.edu 37 6 87971031 87971031 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 87971031 87971031 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.7684 p.R2562C 0.271 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 72 0 0 45 11 19.6429 SLC35A1 0 genome.wustl.edu 37 6 88210914 88210914 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 88210914 88210914 C T SNP SLC35A1 ENST00000369552 human ensembl 74_37 +1 known silent c.393 p.C131 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 76 0 0 53 9 14.5161 EPHA7 0 genome.wustl.edu 37 6 94120695 94120695 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 94120695 94120695 C A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.356 p.C119F 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 142 0 0 82 15 15.4639 COQ3 0 genome.wustl.edu 37 6 99819383 99819383 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 99819383 99819383 A G SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known silent c.810 p.I270 1.000 tigrfam_UbiG_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 54 0 0 36 14 28 FBXO24 0 genome.wustl.edu 37 7 100193217 100193217 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100193217 100193217 G A SNP FBXO24 ENST00000360609 human ensembl 74_37 +1 known nonsense c.930 p.W310* 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO24 HGNC ENSG00000106336 104 0 0 77 11 12.5 EPO 0 genome.wustl.edu 37 7 100320671 100320671 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100320671 100320671 G A SNP EPO ENST00000252723 human ensembl 74_37 +1 known missense c.497 p.R166H 0.529 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn - no_errors EPO HGNC ENSG00000130427 230 0 0 173 27 13.5 ZAN 0 genome.wustl.edu 37 7 100348484 100348484 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100348484 100348484 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.1486 p.V496I 0.003 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 58 0 0 28 18 39.1304 MUC17 0 genome.wustl.edu 37 7 100683507 100683507 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100683507 100683507 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8810 p.T2937N 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 505 0 0 327 90 21.5827 MUC17 0 genome.wustl.edu 37 7 100692247 100692247 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100692247 100692247 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.12657 p.T4219 0.000 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 81 0 0 42 15 26.3158 COL26A1 0 genome.wustl.edu 37 7 101183294 101183294 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 101183294 101183294 C T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.568 p.P190S 0.944 NULL pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 58 0 0 49 6 10.9091 LRRC17 0 genome.wustl.edu 37 7 102584868 102584868 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 102584868 102584868 G A SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known silent c.1140 p.T380 0.034 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 121 0 0 113 26 18.705 KMT2E 0 genome.wustl.edu 37 7 104741971 104741971 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 104741971 104741971 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.1822 p.A608T 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 54 0 0 48 8 14.2857 KMT2E 0 genome.wustl.edu 37 7 104752567 104752567 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 104752567 104752567 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.4364 p.T1455M 0.995 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 177 0 0 136 25 15.528 BCAP29 0 genome.wustl.edu 37 7 107258929 107258929 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107258929 107258929 A G SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known missense c.926 p.H309R 0.025 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 47 0 0 25 6 19.3548 LAMB1 0 genome.wustl.edu 37 7 107599831 107599831 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107599831 107599831 A G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.2553 p.C851 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 123 0 0 96 11 10.2804 LAMB4 0 genome.wustl.edu 37 7 107738872 107738872 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107738872 107738872 C T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1336 p.A446T 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 67 0 0 46 7 13.2075 PNPLA8 0 genome.wustl.edu 37 7 108143062 108143062 + Nonsense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 108143062 108143062 G A SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known nonsense c.1231 p.R411* 1.000 superfamily_ARM-type_fold pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 61 0 0 48 5 9.43396 PAX4 0 genome.wustl.edu 37 7 127253851 127253851 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 127253851 127253851 C T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.497 p.R166Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 101 0 0 70 23 24.7312 CPA1 0 genome.wustl.edu 37 7 130023259 130023259 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 130023259 130023259 G T SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.511 p.A171S 0.998 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 42 0 0 37 7 15.9091 KIAA1549 0 genome.wustl.edu 37 7 138552750 138552750 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138552750 138552750 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4900 p.V1634I 0.996 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 51 0 0 39 11 22 ZC3HAV1 0 genome.wustl.edu 37 7 138732537 138732537 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138732537 138732537 C T SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.2512 p.V838I 0.001 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 108 0 0 68 16 19.0476 UBN2 0 genome.wustl.edu 37 7 138957170 138957170 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138957170 138957170 C T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known nonsense c.1699 p.Q567* 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 187 0 0 132 29 18.0124 HIPK2 0 genome.wustl.edu 37 7 139416654 139416654 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 139416654 139416654 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known silent c.180 p.S60 0.003 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 60 0 0 28 13 31.7073 TBXAS1 0 genome.wustl.edu 37 7 139657496 139657496 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 139657496 139657496 T A SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.893 p.L298Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 99 0 0 81 8 8.98876 PARP12 0 genome.wustl.edu 37 7 139724574 139724574 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 139724574 139724574 T C SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known missense c.1892 p.N631S 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 100 0 0 51 15 22.7273 EPHA1 0 genome.wustl.edu 37 7 143098453 143098453 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 143098453 143098453 A C SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.396 p.D132E 0.973 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA1 HGNC ENSG00000146904 194 0 0 157 28 15.1351 SSPO 0 genome.wustl.edu 37 7 149489158 149489158 + RNA SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 149489158 149489158 T G SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SSPO HGNC ENSG00000197558 140 0 0 107 9 7.75862 SHH 0 genome.wustl.edu 37 7 155596351 155596351 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 155596351 155596351 C T SNP SHH ENST00000297261 human ensembl 74_37 -1 known missense c.632 p.G211D 1.000 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 34 0 0 26 7 21.2121 PTPRN2 0 genome.wustl.edu 37 7 157926586 157926586 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 157926586 157926586 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1408 p.V470I 0.929 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 191 0 0 139 35 20.1149 MAD1L1 0 genome.wustl.edu 37 7 2054221 2054221 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 2054221 2054221 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known silent c.1275 p.A425 0.002 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 48 0 0 26 7 21.2121 IGF2BP3 0 genome.wustl.edu 37 7 23358755 23358755 + Splice_Site SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 23358755 23358755 A G SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known splice_site c.1320+2 e11+2 1.000 - - - no_errors IGF2BP3 HGNC ENSG00000136231 109 0 0 72 16 18.1818 ZNRF2P2 0 genome.wustl.edu 37 7 29690683 29690683 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 29690683 29690683 C T SNP ZNRF2P2 ENST00000426767 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNRF2P2 HGNC ENSG00000225264 27 0 0 13 8 38.0952 FAM188B 0 genome.wustl.edu 37 7 30921892 30921892 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 30921892 30921892 C T SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.2068 p.R690C 0.019 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 89 0 0 53 11 17.1875 SDK1 0 genome.wustl.edu 37 7 4153771 4153771 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 4153771 4153771 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3688 p.S1230G 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 85 0 0 64 14 17.9487 POLD2 0 genome.wustl.edu 37 7 44161617 44161617 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 44161617 44161617 A G SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known silent c.36 p.T12 0.087 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 106 0 0 77 15 16.3043 ABCA13 0 genome.wustl.edu 37 7 48313033 48313033 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 48313033 48313033 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.3770 p.L1257P 0.022 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 34 0 0 24 4 14.2857 ABCA13 0 genome.wustl.edu 37 7 48319446 48319446 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 48319446 48319446 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.8655 p.C2885 0.002 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 76 0 0 59 24 28.9157 ABCA13 0 genome.wustl.edu 37 7 48684303 48684303 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 48684303 48684303 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.15034 p.F5012V 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 77 0 0 64 6 8.57143 TNRC18 0 genome.wustl.edu 37 7 5352330 5352330 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 5352330 5352330 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8192 p.P2731L 0.722 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 58 0 0 45 6 11.7647 TNRC18 0 genome.wustl.edu 37 7 5410759 5410759 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 5410759 5410759 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.3466 p.R1156W 0.868 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 52 0 0 41 10 19.6078 EGFR 0 genome.wustl.edu 37 7 55224230 55224230 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 55224230 55224230 T C SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1011 p.C337 0.989 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 148 0 0 105 24 18.6047 AIMP2 0 genome.wustl.edu 37 7 6057602 6057602 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6057602 6057602 A G SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.500 p.K167R 0.990 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 46 0 0 33 4 10.8108 AIMP2 0 genome.wustl.edu 37 7 6063241 6063241 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6063241 6063241 A G SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known silent c.882 p.T294 0.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 82 0 0 63 13 17.1053 USP42 0 genome.wustl.edu 37 7 6196618 6196618 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6196618 6196618 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.3875 p.R1292H 0.004 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 43 0 0 24 8 25 ZNF679 0 genome.wustl.edu 37 7 63726730 63726730 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 63726730 63726730 A G SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.719 p.Y240C 0.097 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 ZNF679 HGNC ENSG00000197123 37 0 0 35 3 7.89474 ERV3-1 0 genome.wustl.edu 37 7 64452896 64452896 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 64452896 64452896 G A SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.509 p.T170M 0.228 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 95 0 0 94 13 12.1495 DAGLB 0 genome.wustl.edu 37 7 6470224 6470224 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 6470224 6470224 A T SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.816 p.D272E 0.985 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 14 0 0 10 4 28.5714 TBL2 0 genome.wustl.edu 37 7 72985266 72985266 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 72985266 72985266 C T SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known silent c.915 p.L305 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 149 0 0 90 20 18.1818 MLXIPL 0 genome.wustl.edu 37 7 73012008 73012008 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 73012008 73012008 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known silent c.1107 p.S369 0.961 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 78 0 0 55 8 12.6984 ABHD11 0 genome.wustl.edu 37 7 73151664 73151664 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 73151664 73151664 C T SNP ABHD11 ENST00000222800 human ensembl 74_37 -1 known missense c.520 p.V174I 0.000 pfam_AB_hydrolase_1,pfam_PGAP1-like,pfam_Thioesterase pfam_AB_hydrolase_1,pfam_PGAP1-like,pfam_Thioesterase,pfam_Esterase_put,prints_AB_hydrolase_1 - no_errors ABHD11 HGNC ENSG00000106077 95 0 0 64 16 20 LAT2 0 genome.wustl.edu 37 7 73634118 73634118 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 73634118 73634118 G A SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known splice_site c.178+1 e3+1 0.998 - - - no_errors LAT2 HGNC ENSG00000086730 215 0 0 152 19 11.1111 DTX2 0 genome.wustl.edu 37 7 76111866 76111866 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 76111866 76111866 T G SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.310 p.S104A 0.988 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 127 0 0 85 9 9.57447 PTPN12 0 genome.wustl.edu 37 7 77221548 77221548 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 77221548 77221548 C T SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.467 p.T156M 0.917 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 86 0 0 83 6 6.74157 PTPN12 0 genome.wustl.edu 37 7 77256457 77256457 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 77256457 77256457 C T SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known silent c.1461 p.V487 0.000 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 104 0 0 93 14 13.0841 GLCCI1 0 genome.wustl.edu 37 7 8095099 8095099 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 8095099 8095099 A G SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.733 p.K245E 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 84 0 0 75 10 11.7647 ICA1 0 genome.wustl.edu 37 7 8167646 8167646 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 8167646 8167646 G T SNP ICA1 ENST00000422063 human ensembl 74_37 -1 known missense c.1274 p.A425D 0.982 pfam_Islet_autoAg_Ica1_C pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 188 0 0 130 35 21.2121 ABCB4 0 genome.wustl.edu 37 7 87037390 87037390 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87037390 87037390 A C SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.3242 p.L1081R 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 148 0 0 118 8 6.34921 RUNDC3B 0 genome.wustl.edu 37 7 87329803 87329803 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87329803 87329803 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 68 0 0 51 14 21.5385 RUNDC3B 0 genome.wustl.edu 37 7 87399959 87399959 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87399959 87399959 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.743 p.S248N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 52 0 0 24 8 25 ADAM22 0 genome.wustl.edu 37 7 87797530 87797530 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 87797530 87797530 C T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2270 p.A757V 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 31 0 0 19 7 26.9231 TRRAP 0 genome.wustl.edu 37 7 98545941 98545941 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 98545941 98545941 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.4625 p.T1542M 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 75 0 0 61 13 17.5676 ARPC1B 0 genome.wustl.edu 37 7 98985793 98985793 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 98985793 98985793 T G SNP ARPC1B ENST00000252725 human ensembl 74_37 +1 known missense c.301 p.C101G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 67 0 0 69 6 8 MCM7 0 genome.wustl.edu 37 7 99691937 99691937 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 99691937 99691937 C T SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known silent c.1707 p.K569 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 100 0 0 86 22 20.3704 TAF6 0 genome.wustl.edu 37 7 99706095 99706095 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 99706095 99706095 T A SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.1353 p.E451D 1.000 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 166 0 0 155 17 9.88372 TAF6 0 genome.wustl.edu 37 7 99709441 99709441 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 99709441 99709441 G A SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known silent c.810 p.N270 0.579 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 94 0 0 86 26 23.2143 VPS13B 0 genome.wustl.edu 37 8 100847855 100847855 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 100847855 100847855 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.9906 p.P3302 0.989 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 94 0 0 82 10 10.8696 VPS13B 0 genome.wustl.edu 37 8 100847958 100847958 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 100847958 100847958 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10009 p.G3337R 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 46 0 0 47 8 14.5455 DCAF13 0 genome.wustl.edu 37 8 104442891 104442891 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 104442891 104442891 A G SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.1132 p.M378V 1.000 pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 130 0 0 104 29 21.8045 RP1L1 0 genome.wustl.edu 37 8 10470324 10470324 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 10470324 10470324 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.1284 p.L428 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 108 0 0 90 18 16.6667 RP1L1 0 genome.wustl.edu 37 8 10480514 10480514 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 10480514 10480514 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.198 p.D66 0.270 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 69 0 0 71 13 15.4762 RIMS2 0 genome.wustl.edu 37 8 105160971 105160971 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 105160971 105160971 T G SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.3283 p.L1095V 0.895 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 69 0 0 67 8 10.6667 EBAG9 0 genome.wustl.edu 37 8 110566971 110566971 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 110566971 110566971 A T SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known missense c.176 p.E59V 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 91 0 0 86 10 10.4167 XKR6 0 genome.wustl.edu 37 8 11058771 11058771 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 11058771 11058771 G A SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known silent c.78 p.S26 1.000 NULL pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 22 0 0 17 6 26.087 KCNV1 0 genome.wustl.edu 37 8 110984820 110984820 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 110984820 110984820 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.658 p.V220M 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 84 0 0 77 9 10.4651 RAD21 0 genome.wustl.edu 37 8 117866580 117866580 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 117866580 117866580 C T SNP RAD21 ENST00000297338 human ensembl 74_37 -1 known silent c.1065 p.P355 0.987 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC ENSG00000164754 111 0 0 111 10 8.26446 ENPP2 0 genome.wustl.edu 37 8 120594822 120594822 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 120594822 120594822 C T SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.1720 p.A574T 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 248 0 0 219 32 12.749 RNF139 0 genome.wustl.edu 37 8 125499569 125499569 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 125499569 125499569 T C SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known missense c.1679 p.I560T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 62 0 0 63 9 12.5 KIAA0196 0 genome.wustl.edu 37 8 126068972 126068972 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 126068972 126068972 G A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.1963 p.R655C 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 148 0 0 127 17 11.8056 KIAA0196 0 genome.wustl.edu 37 8 126069833 126069833 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 126069833 126069833 A C SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.1840 p.Y614D 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 32 0 0 23 3 11.5385 ADCY8 0 genome.wustl.edu 37 8 131797710 131797710 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 131797710 131797710 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3072 p.E1024 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 60 0 0 45 6 11.7647 ADCY8 0 genome.wustl.edu 37 8 132002664 132002664 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 132002664 132002664 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1085 p.R362H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 207 0 0 175 38 17.8404 TG 0 genome.wustl.edu 37 8 133961067 133961067 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 133961067 133961067 T G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5280 p.C1760W 0.771 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 169 0 0 146 35 19.337 SLA 0 genome.wustl.edu 37 8 134062186 134062186 + Missense_Mutation SNP C C G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 134062186 134062186 C G SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.329 p.S110T 0.994 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 78 0 0 64 17 20.9877 WISP1 0 genome.wustl.edu 37 8 134232859 134232859 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 134232859 134232859 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.385 p.R129C 0.996 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 114 0 0 91 9 9 FAM135B 0 genome.wustl.edu 37 8 139323158 139323158 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 139323158 139323158 T C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.83 p.Y28C 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 50 0 0 53 18 25.3521 LY6E 0 genome.wustl.edu 37 8 144103031 144103031 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144103031 144103031 C T SNP LY6E ENST00000292494 human ensembl 74_37 +1 known missense c.221 p.A74V 0.618 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6E HGNC ENSG00000160932 131 0 0 141 23 14.0244 LY6H 0 genome.wustl.edu 37 8 144239752 144239752 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144239752 144239752 G A SNP LY6H ENST00000342752 human ensembl 74_37 -1 known missense c.401 p.A134V 0.000 smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6H HGNC ENSG00000176956 145 0 0 123 18 12.766 MROH6 0 genome.wustl.edu 37 8 144650731 144650731 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144650731 144650731 G A SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known silent c.1635 p.D545 0.011 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 10 0 0 9 3 25 SCRIB 0 genome.wustl.edu 37 8 144895989 144895989 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 144895989 144895989 T C SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.355 p.R119G 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 27 0 0 23 5 17.8571 PLEC 0 genome.wustl.edu 37 8 145009380 145009380 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145009380 145009380 A G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.1115 p.L372P 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 56 0 0 45 8 15.0943 OPLAH 0 genome.wustl.edu 37 8 145111098 145111098 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145111098 145111098 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.2048 p.G683D 0.024 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 93 0 0 73 22 23.1579 OPLAH 0 genome.wustl.edu 37 8 145111153 145111153 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145111153 145111153 A G SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1993 p.C665R 1.000 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 87 0 0 85 8 8.60215 CPSF1 0 genome.wustl.edu 37 8 145626450 145626450 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145626450 145626450 A G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.407 p.V136A 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 39 0 0 26 4 13.3333 TONSL 0 genome.wustl.edu 37 8 145661672 145661672 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145661672 145661672 T C SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.2144 p.H715R 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 100 0 0 75 12 13.7931 KIFC2 0 genome.wustl.edu 37 8 145698237 145698237 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145698237 145698237 G C SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.1921 p.G641R 0.001 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 31 0 0 15 3 16.6667 PPP1R16A 0 genome.wustl.edu 37 8 145724400 145724400 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145724400 145724400 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known silent c.432 p.A144 0.353 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 85 0 0 69 19 21.5909 GPT 0 genome.wustl.edu 37 8 145730439 145730439 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 145730439 145730439 T C SNP GPT ENST00000394955 human ensembl 74_37 +1 known silent c.420 p.I140 0.139 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 94 0 0 93 14 13.0841 C8orf33 0 genome.wustl.edu 37 8 146278758 146278758 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 146278758 146278758 A G SNP C8orf33 ENST00000331434 human ensembl 74_37 +1 known missense c.479 p.H160R 0.031 NULL NULL - no_errors C8orf33 HGNC ENSG00000182307 100 0 0 82 15 15.4639 SLC18A1 0 genome.wustl.edu 37 8 20005579 20005579 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 20005579 20005579 A G SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known silent c.1149 p.V383 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 41 0 0 46 10 17.8571 MYOM2 0 genome.wustl.edu 37 8 2063871 2063871 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 2063871 2063871 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.3300 p.Q1100 0.996 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM2 HGNC ENSG00000036448 99 0 0 79 13 14.1304 FAM160B2 0 genome.wustl.edu 37 8 21955612 21955612 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 21955612 21955612 G A SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.559 p.G187R 0.001 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 12 0 0 14 5 26.3158 HR 0 genome.wustl.edu 37 8 21978591 21978591 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 21978591 21978591 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2354 p.P785L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 95 0 0 80 13 13.9785 PIWIL2 0 genome.wustl.edu 37 8 22175700 22175700 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22175700 22175700 A G SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.2315 p.Y772C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 115 0 0 128 16 11.1111 CCAR2 0 genome.wustl.edu 37 8 22475247 22475247 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22475247 22475247 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.2029 p.A677T 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 214 1 0.465116 179 32 15.1659 RHOBTB2 0 genome.wustl.edu 37 8 22864745 22864745 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22864745 22864745 T C SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known silent c.987 p.H329 0.786 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 80 0 0 54 5 8.47458 RHOBTB2 0 genome.wustl.edu 37 8 22864881 22864881 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22864881 22864881 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1123 p.G375R 0.977 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 181 0 0 153 19 11.0465 ADRA1A 0 genome.wustl.edu 37 8 26722436 26722436 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 26722436 26722436 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known silent c.51 p.P17 0.000 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 366 0 0 338 47 12.2078 PTK2B 0 genome.wustl.edu 37 8 27311752 27311752 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 27311752 27311752 G A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.2677 p.E893K 1.000 pfam_Focal_adhesion_kin_target_dom,superfamily_Focal_adhesion_kin_target_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 77 0 0 57 11 16.1765 SCARA3 0 genome.wustl.edu 37 8 27528559 27528559 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 27528559 27528559 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known silent c.1512 p.A504 0.000 pfam_Collagen pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 73 0 0 61 7 10.2941 SCARA5 0 genome.wustl.edu 37 8 27737174 27737174 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 27737174 27737174 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known silent c.1263 p.G421 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 139 0 0 120 29 19.4631 CSMD1 0 genome.wustl.edu 37 8 2820918 2820918 + Splice_Site SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 2820918 2820918 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known splice_site c.9284-1 e61-1 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 255 0 0 239 39 14.0288 UBXN8 0 genome.wustl.edu 37 8 30623790 30623790 + RNA SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 30623790 30623790 C T SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.735 - - - no_errors UBXN8 HGNC ENSG00000104691 56 0 0 54 4 6.89655 TTI2 0 genome.wustl.edu 37 8 33356786 33356786 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 33356786 33356786 C T SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known missense c.1432 p.A478T 0.951 NULL pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 64 0 0 55 11 16.6667 TTI2 0 genome.wustl.edu 37 8 33361318 33361318 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 33361318 33361318 G A SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 pfam_DUF2454,superfamily_ARM-type_fold pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 36 0 0 41 4 8.88889 PRKDC 0 genome.wustl.edu 37 8 48855837 48855837 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 48855837 48855837 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.898 p.W300R 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 28 0 0 24 3 11.1111 NPBWR1 0 genome.wustl.edu 37 8 53853315 53853315 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 53853315 53853315 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.848 p.P283L 1.000 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_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 75 0 0 62 10 13.8889 SOX17 0 genome.wustl.edu 37 8 55370866 55370866 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 55370866 55370866 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.168 p.A56 0.756 superfamily_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 39 0 0 29 6 17.1429 CHD7 0 genome.wustl.edu 37 8 61713001 61713001 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 61713001 61713001 T C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.2293 p.F765L 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 34 0 0 23 8 25.8065 MCPH1 0 genome.wustl.edu 37 8 6293605 6293605 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 6293605 6293605 A C SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.358 p.T120P 0.996 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 86 0 0 53 8 13.1148 MIR124-2 0 genome.wustl.edu 37 8 65291788 65291788 + RNA SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 65291788 65291788 A C SNP MIR124-2 ENST00000385081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-2 HGNC ENSG00000207816 24 0 0 12 4 25 C8orf46 0 genome.wustl.edu 37 8 67417695 67417695 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 67417695 67417695 G A SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.212 p.R71H 0.789 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 13 0 0 11 3 21.4286 C8orf34 0 genome.wustl.edu 37 8 69381025 69381025 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 69381025 69381025 C A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.706 p.L236M 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 53 0 0 41 8 16.3265 SULF1 0 genome.wustl.edu 37 8 70551091 70551091 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 70551091 70551091 T C SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.2549 p.V850A 0.979 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 76 0 0 39 6 13.3333 KCNB2 0 genome.wustl.edu 37 8 73848276 73848276 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 73848276 73848276 A T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.686 p.D229V 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 117 0 0 123 23 15.7534 TERF1 0 genome.wustl.edu 37 8 73951397 73951397 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 73951397 73951397 A G SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.1086 p.I362M 0.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 39 0 0 26 10 27.7778 LY96 0 genome.wustl.edu 37 8 74903748 74903748 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 74903748 74903748 T C SNP LY96 ENST00000284818 human ensembl 74_37 +1 known missense c.71 p.V24A 0.824 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY96 HGNC ENSG00000154589 127 0 0 115 27 19.0141 CPNE3 0 genome.wustl.edu 37 8 87567194 87567194 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 87567194 87567194 G A SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known silent c.1236 p.T412 0.705 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 89 0 0 83 12 12.6316 TSPYL5 0 genome.wustl.edu 37 8 98289982 98289982 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 98289982 98289982 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.91 p.D31N 0.913 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 22 0 0 17 4 19.0476 OSR2 0 genome.wustl.edu 37 8 99962935 99962935 + Silent SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 99962935 99962935 A T SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.1071 p.G357 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 26 0 0 25 4 13.7931 XPA 0 genome.wustl.edu 37 9 100449520 100449520 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 100449520 100449520 A C SNP XPA ENST00000375128 human ensembl 74_37 -1 known missense c.413 p.L138R 1.000 pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 41 0 0 42 9 17.6471 CYLC2 0 genome.wustl.edu 37 9 105767708 105767708 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 105767708 105767708 G T SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.795 p.K265N 0.020 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 57 0 0 53 7 11.6667 SMC2 0 genome.wustl.edu 37 9 106889742 106889742 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 106889742 106889742 C A SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.2771 p.A924D 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 107 0 0 67 15 18.2927 KLF4 0 genome.wustl.edu 37 9 110249778 110249778 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 110249778 110249778 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known silent c.897 p.R299 0.670 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 31 0 0 29 4 12.1212 ACTL7A 0 genome.wustl.edu 37 9 111625720 111625720 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 111625720 111625720 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.1118 p.R373H 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 89 0 0 74 13 14.9425 IKBKAP 0 genome.wustl.edu 37 9 111665926 111665926 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 111665926 111665926 A G SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.1667 p.V556A 0.034 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 58 0 0 50 3 5.66038 FAM206A 0 genome.wustl.edu 37 9 111698607 111698607 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 111698607 111698607 G A SNP FAM206A ENST00000322940 human ensembl 74_37 +1 known missense c.151 p.A51T 1.000 superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif - no_errors FAM206A HGNC ENSG00000119328 109 0 0 68 13 16.0494 C9orf152 0 genome.wustl.edu 37 9 112963473 112963473 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 112963473 112963473 A G SNP C9orf152 ENST00000400613 human ensembl 74_37 -1 known silent c.475 p.L159 0.001 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 319 0 0 278 29 9.44625 ZNF618 0 genome.wustl.edu 37 9 116770827 116770827 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 116770827 116770827 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.747 p.I249 0.997 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 61 0 0 27 7 20.5882 COL27A1 0 genome.wustl.edu 37 9 117051237 117051237 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 117051237 117051237 A G SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4142 p.Q1381R 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 46 0 0 57 6 9.52381 AKNA 0 genome.wustl.edu 37 9 117120302 117120302 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 117120302 117120302 C T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.2638 p.A880T 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 94 0 0 76 16 17.3913 AKNA 0 genome.wustl.edu 37 9 117143524 117143524 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 117143524 117143524 C A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.90 p.K30N 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 51 0 0 22 5 18.5185 CDK5RAP2 0 genome.wustl.edu 37 9 123216122 123216122 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123216122 123216122 A C SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2405 p.L802R 0.998 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 104 0 0 99 8 7.47664 PSMD5 0 genome.wustl.edu 37 9 123586858 123586858 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123586858 123586858 T C SNP PSMD5 ENST00000210313 human ensembl 74_37 -1 known missense c.920 p.Q307R 1.000 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 124 0 0 91 15 14.1509 GSN 0 genome.wustl.edu 37 9 124064376 124064376 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 124064376 124064376 G A SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 150 0 0 163 43 20.8738 DAB2IP 0 genome.wustl.edu 37 9 124535070 124535070 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 124535070 124535070 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.2263 p.R755C 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 40 0 0 26 4 13.3333 WDR38 0 genome.wustl.edu 37 9 127617966 127617966 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 127617966 127617966 T C SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known missense c.244 p.S82P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 121 0 0 126 8 5.97015 GOLGA1 0 genome.wustl.edu 37 9 127643510 127643510 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 127643510 127643510 T C SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known silent c.2163 p.S721 0.336 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 196 0 0 148 39 20.8556 ZBTB34 0 genome.wustl.edu 37 9 129642636 129642636 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 129642636 129642636 C T SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known nonsense c.958 p.R320* 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 41 0 0 48 7 12.7273 LRSAM1 0 genome.wustl.edu 37 9 130224623 130224623 + Nonsense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130224623 130224623 C T SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known nonsense c.499 p.Q167* 0.966 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 109 0 0 98 21 17.6471 C9orf117 0 genome.wustl.edu 37 9 130469428 130469428 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130469428 130469428 T C SNP C9orf117 ENST00000373295 human ensembl 74_37 +1 known missense c.118 p.F40L 1.000 NULL NULL - no_errors C9orf117 HGNC ENSG00000160401 132 0 0 117 16 12.0301 NAIF1 0 genome.wustl.edu 37 9 130829334 130829334 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130829334 130829334 T C SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known missense c.47 p.E16G 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 273 0 0 224 27 10.757 SLC25A25 0 genome.wustl.edu 37 9 130860977 130860977 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130860977 130860977 A T SNP SLC25A25 ENST00000373064 human ensembl 74_37 +1 known missense c.132 p.E44D 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 196 0 0 150 12 7.40741 SLC25A25 0 genome.wustl.edu 37 9 130863446 130863446 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 130863446 130863446 A G SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known silent c.333 p.Q111 0.932 smart_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 116 0 0 110 9 7.56303 WDR34 0 genome.wustl.edu 37 9 131396106 131396106 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 131396106 131396106 A G SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known missense c.1528 p.W510R 1.000 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 WDR34 HGNC ENSG00000119333 126 0 0 105 31 22.7941 C9orf114 0 genome.wustl.edu 37 9 131591432 131591432 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 131591432 131591432 A G SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known silent c.39 p.G13 0.990 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 125 0 0 91 14 13.3333 CRAT 0 genome.wustl.edu 37 9 131870225 131870225 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 131870225 131870225 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.159 p.A53 0.015 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 87 0 0 90 19 17.4312 ASS1 0 genome.wustl.edu 37 9 133355812 133355812 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 133355812 133355812 C T SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.814 p.R272C 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 57 0 0 57 9 13.6364 ABL1 0 genome.wustl.edu 37 9 133759478 133759478 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 133759478 133759478 A G SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.1858 p.S620G 1.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 229 1 0.434783 184 28 13.2075 PRRC2B 0 genome.wustl.edu 37 9 134346278 134346278 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 134346278 134346278 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.2015 p.P672L 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 44 0 0 48 5 9.43396 TSC1 0 genome.wustl.edu 37 9 135801087 135801087 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 135801087 135801087 C T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.250 p.A84T 0.134 pfam_Hamartin,superfamily_ARM-type_fold pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 86 0 0 71 4 5.33333 GTF3C5 0 genome.wustl.edu 37 9 135919265 135919265 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 135919265 135919265 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.524 p.R175Q 0.999 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 159 0 0 105 26 19.8473 BRD3 0 genome.wustl.edu 37 9 136918532 136918532 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 136918532 136918532 G T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.68 p.P23H 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 63 0 0 73 17 18.8889 CAMSAP1 0 genome.wustl.edu 37 9 138742275 138742275 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 138742275 138742275 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.874 p.D292N 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 93 0 0 73 12 14.1176 INPP5E 0 genome.wustl.edu 37 9 139333133 139333133 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139333133 139333133 C T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.739 p.D247N 0.012 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 22 0 0 13 3 18.75 SEC16A 0 genome.wustl.edu 37 9 139345720 139345720 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139345720 139345720 C A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.6300 p.K2100N 0.659 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 30 0 0 24 4 14.2857 FAM69B 0 genome.wustl.edu 37 9 139617940 139617940 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139617940 139617940 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.1010 p.S337N 0.779 pfam_FAM69_kinase_dom pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 25 0 0 16 5 23.8095 ABCA2 0 genome.wustl.edu 37 9 139905931 139905931 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 139905931 139905931 A C SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.5727 p.I1909M 0.743 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 22 0 0 19 3 13.6364 FAM166A 0 genome.wustl.edu 37 9 140139126 140139126 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140139126 140139126 T A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.715 p.M239L 0.161 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 38 0 0 21 6 22.2222 FAM166A 0 genome.wustl.edu 37 9 140139562 140139562 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140139562 140139562 T A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.631 p.I211F 0.994 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 204 0 0 150 32 17.5824 TOR4A 0 genome.wustl.edu 37 9 140174339 140174339 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140174339 140174339 T C SNP TOR4A ENST00000357503 human ensembl 74_37 +1 known missense c.1198 p.F400L 1.000 NULL pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 23 0 0 6 3 33.3333 EXD3 0 genome.wustl.edu 37 9 140289760 140289760 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140289760 140289760 C T SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.50 p.R17H 0.002 NULL pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 84 0 0 107 13 10.8333 MIR602 0 genome.wustl.edu 37 9 140732909 140732909 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140732909 140732909 G A SNP MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR602 HGNC ENSG00000207693 211 1 0.471698 147 27 15.5172 ADAMTSL1 0 genome.wustl.edu 37 9 18777151 18777151 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 18777151 18777151 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2924 p.R975K 0.001 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 108 0 0 90 17 15.8879 HAUS6 0 genome.wustl.edu 37 9 19082943 19082943 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 19082943 19082943 A G SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known silent c.798 p.A266 0.985 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 45 0 0 41 7 14.5833 MLLT3 0 genome.wustl.edu 37 9 20414298 20414298 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 20414298 20414298 A G SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.546 p.S182 0.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 116 1 0.854701 110 9 7.56303 SMARCA2 0 genome.wustl.edu 37 9 2123796 2123796 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 2123796 2123796 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.3840 p.L1280 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 42 0 0 28 6 17.6471 MTAP 0 genome.wustl.edu 37 9 21816756 21816756 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 21816756 21816756 G A SNP MTAP ENST00000380172 human ensembl 74_37 +1 known missense c.164 p.C55Y 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP - no_errors MTAP HGNC ENSG00000099810 277 0 0 203 43 17.4797 SMARCA2 0 genome.wustl.edu 37 9 2182188 2182188 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 2182188 2182188 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.4407 p.K1469 0.937 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 159 0 0 127 16 11.1888 SMU1 0 genome.wustl.edu 37 9 33073764 33073764 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33073764 33073764 A T SNP SMU1 ENST00000397149 human ensembl 74_37 -1 known missense c.67 p.L23I 1.000 smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 118 0 0 91 17 15.7407 SPINK4 0 genome.wustl.edu 37 9 33248464 33248464 + Missense_Mutation SNP T T G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33248464 33248464 T G SNP SPINK4 ENST00000379723 human ensembl 74_37 +1 known missense c.325 p.C109G 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 55 0 0 57 7 10.9375 NOL6 0 genome.wustl.edu 37 9 33472011 33472011 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33472011 33472011 A G SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known silent c.369 p.P123 0.000 NULL pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 115 0 0 107 6 5.30973 CNTFR 0 genome.wustl.edu 37 9 34556332 34556332 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34556332 34556332 G C SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.689 p.S230W 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 61 0 0 42 3 6.66667 CNTFR 0 genome.wustl.edu 37 9 34557547 34557547 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34557547 34557547 A C SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.581 p.I194S 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 74 0 0 48 7 12.7273 CNTFR 0 genome.wustl.edu 37 9 34557549 34557549 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34557549 34557549 A G SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known silent c.579 p.A193 0.859 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 74 0 0 50 7 12.2807 RPP25L 0 genome.wustl.edu 37 9 34611083 34611083 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34611083 34611083 C T SNP RPP25L ENST00000297613 human ensembl 74_37 -1 known missense c.211 p.A71T 1.000 pfam_DNA/RNA-bd_Alba-like pfam_DNA/RNA-bd_Alba-like - no_errors RPP25L HGNC ENSG00000164967 85 0 0 61 16 20.7792 GALT 0 genome.wustl.edu 37 9 34648885 34648885 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 34648885 34648885 C T SNP GALT ENST00000378842 human ensembl 74_37 +1 known missense c.814 p.R272C 1.000 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 91 0 0 79 12 13.1868 FANCG 0 genome.wustl.edu 37 9 35077352 35077352 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35077352 35077352 A G SNP FANCG ENST00000378643 human ensembl 74_37 -1 known silent c.555 p.S185 0.006 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 159 0 0 125 29 18.8312 ARHGEF39 0 genome.wustl.edu 37 9 35662946 35662946 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35662946 35662946 A T SNP ARHGEF39 ENST00000378387 human ensembl 74_37 -1 known missense c.670 p.S224T 0.770 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 66 0 0 46 5 9.80392 TLN1 0 genome.wustl.edu 37 9 35704044 35704044 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35704044 35704044 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6175 p.A2059T 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_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 TLN1 HGNC ENSG00000137076 64 0 0 57 12 17.3913 TLN1 0 genome.wustl.edu 37 9 35713198 35713198 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35713198 35713198 T A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.3347 p.Y1116F 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_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 TLN1 HGNC ENSG00000137076 34 0 0 32 4 11.1111 CREB3 0 genome.wustl.edu 37 9 35736486 35736486 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35736486 35736486 G A SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known silent c.879 p.Q293 0.027 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 114 0 0 103 26 20.155 RNF38 0 genome.wustl.edu 37 9 36369780 36369780 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 36369780 36369780 C T SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known missense c.506 p.R169H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 118 0 0 93 6 6.06061 ZCCHC7 0 genome.wustl.edu 37 9 37349450 37349450 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 37349450 37349450 G A SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known splice_site c.1083+1 e6+1 1.000 - - - no_errors ZCCHC7 HGNC ENSG00000147905 56 0 0 55 10 15.3846 CNTNAP3B 0 genome.wustl.edu 37 9 43818077 43818077 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 43818077 43818077 C T SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.964 p.R322W 0.518 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 84 0 0 80 23 22.3301 CD274 0 genome.wustl.edu 37 9 5457204 5457204 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 5457204 5457204 G A SNP CD274 ENST00000381577 human ensembl 74_37 +1 known missense c.178 p.E60K 0.975 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD274 HGNC ENSG00000120217 81 0 0 93 7 7 GLDC 0 genome.wustl.edu 37 9 6595052 6595052 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 6595052 6595052 G T SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.1223 p.A408D 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 377 0 0 257 40 13.468 GCNT1 0 genome.wustl.edu 37 9 79117617 79117617 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 79117617 79117617 G A SNP GCNT1 ENST00000376730 human ensembl 74_37 +1 known missense c.320 p.R107H 0.991 NULL pfam_Glyco_trans_14 - no_errors GCNT1 HGNC ENSG00000187210 157 0 0 156 16 9.30233 DAPK1 0 genome.wustl.edu 37 9 90321930 90321930 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 90321930 90321930 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.4019 p.R1340H 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 115 0 0 104 20 16.129 WNK2 0 genome.wustl.edu 37 9 96061507 96061507 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96061507 96061507 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6190 p.G2064S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 59 0 0 41 7 14.5833 C9orf129 0 genome.wustl.edu 37 9 96097786 96097786 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96097786 96097786 G A SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known silent c.235 p.L79 0.953 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 97 0 0 54 13 19.403 PHF2 0 genome.wustl.edu 37 9 96416722 96416722 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 96416722 96416722 C A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.817 p.P273T 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 67 0 0 50 15 23.0769 PTCH1 0 genome.wustl.edu 37 9 98240410 98240410 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 98240410 98240410 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1274 p.T425M 0.986 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 88 0 0 63 5 7.35294 CTSV 0 genome.wustl.edu 37 9 99800201 99800201 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 99800201 99800201 G A SNP CTSV ENST00000259470 human ensembl 74_37 -1 known missense c.125 p.A42V 0.001 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 121 0 0 89 12 11.8812 DRP2 0 genome.wustl.edu 37 X 100496847 100496847 + Silent SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 100496847 100496847 T C SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known silent c.750 p.A250 0.001 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 17 0 0 5 4 44.4444 GLA 0 genome.wustl.edu 37 X 100653778 100653778 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 100653778 100653778 C A SNP GLA ENST00000218516 human ensembl 74_37 -1 known missense c.796 p.D266Y 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 242 0 0 149 16 9.69697 ZMAT1 0 genome.wustl.edu 37 X 101141679 101141679 + Missense_Mutation SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 101141679 101141679 C A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.530 p.C177F 0.983 smart_Znf_U1,smart_Znf_C2H2-like superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 55 0 0 27 5 15.625 MID2 0 genome.wustl.edu 37 X 107084614 107084614 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 107084614 107084614 A C SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.719 p.K240T 1.000 smart_Bbox_C 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 81 0 0 50 16 24.2424 COL4A6 0 genome.wustl.edu 37 X 107406265 107406265 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 107406265 107406265 G C SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.4076 p.S1359C 0.177 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 189 0 0 117 11 8.59375 COL4A5 0 genome.wustl.edu 37 X 107812034 107812034 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 107812034 107812034 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.367 p.G123R 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 137 0 0 103 10 8.84956 SEPT6 0 genome.wustl.edu 37 X 118763372 118763372 + Nonsense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 118763372 118763372 T A SNP SEPT6 ENST00000394617 human ensembl 74_37 -1 known nonsense c.1279 p.K427* 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 216 0 0 145 17 10.4938 DCAF12L1 0 genome.wustl.edu 37 X 125686355 125686355 + Silent SNP C C A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 125686355 125686355 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.237 p.A79 0.066 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 140 0 0 76 24 24 BCORL1 0 genome.wustl.edu 37 X 129189982 129189982 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 129189982 129189982 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.5229 p.A1743 0.007 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 223 1 0.446429 138 26 15.8537 FRMD7 0 genome.wustl.edu 37 X 131212883 131212883 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 131212883 131212883 T C SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known missense c.1162 p.T388A 0.998 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 265 1 0.37594 193 36 15.7205 SAGE1 0 genome.wustl.edu 37 X 134978401 134978401 + Splice_Site SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 134978401 134978401 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.017 - - - no_errors SAGE1 HGNC ENSG00000181433 75 0 0 63 10 13.6986 FHL1 0 genome.wustl.edu 37 X 135290723 135290723 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 135290723 135290723 A C SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.611 p.E204A 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 438 0 0 340 45 11.6883 OFD1 0 genome.wustl.edu 37 X 13762570 13762570 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 13762570 13762570 A G SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.449 p.Y150C 0.998 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 43 0 0 37 6 13.9535 CSAG4 0 genome.wustl.edu 37 X 151896598 151896598 + RNA SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 151896598 151896598 G A SNP CSAG4 ENST00000361201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC ENSG00000242599 262 0 0 184 26 12.381 MAGEA3 0 genome.wustl.edu 37 X 151935799 151935799 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 151935799 151935799 T C SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.368 p.K123R 0.038 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 259 0 0 179 21 10.5 NSDHL 0 genome.wustl.edu 37 X 152027360 152027360 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 152027360 152027360 C T SNP NSDHL ENST00000370274 human ensembl 74_37 +1 known missense c.314 p.A105V 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 171 0 0 104 8 7.14286 PNMA5 0 genome.wustl.edu 37 X 152158827 152158827 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 152158827 152158827 G A SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.1316 p.A439V 0.782 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 143 0 0 98 13 11.7117 FAM58A 0 genome.wustl.edu 37 X 152861628 152861628 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 152861628 152861628 G A SNP FAM58A ENST00000406277 human ensembl 74_37 -1 known missense c.124 p.R42W 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors FAM58A HGNC ENSG00000147382 135 0 0 96 12 11.1111 ARHGAP4 0 genome.wustl.edu 37 X 153174920 153174920 + Silent SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 153174920 153174920 G T SNP ARHGAP4 ENST00000350060 human ensembl 74_37 -1 known silent c.2484 p.L828 0.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 43 0 0 35 10 22.2222 HCFC1 0 genome.wustl.edu 37 X 153220076 153220076 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 153220076 153220076 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.3774 p.C1258 0.027 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 97 0 0 58 16 21.6216 FLNA 0 genome.wustl.edu 37 X 153585944 153585944 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 153585944 153585944 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.4803 p.D1601 0.434 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 FLNA HGNC ENSG00000196924 52 0 0 37 3 7.5 ACE2 0 genome.wustl.edu 37 X 15580094 15580094 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 15580094 15580094 G A SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known silent c.2352 p.I784 0.019 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 90 0 0 77 14 15.3846 PLCXD1 0 genome.wustl.edu 37 X 205452 205452 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 205452 205452 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known silent c.180 p.H60 0.001 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom 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 - no_errors PLCXD1 HGNC ENSG00000182378 168 0 0 103 23 18.254 MAGEB4 0 genome.wustl.edu 37 X 30260340 30260340 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 30260340 30260340 C T SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.88 p.P30S 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 53 0 0 33 13 28.2609 MXRA5 0 genome.wustl.edu 37 X 3240252 3240252 + Silent SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 3240252 3240252 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.3474 p.R1158 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 177 0 0 124 27 17.8808 MED14 0 genome.wustl.edu 37 X 40552103 40552103 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 40552103 40552103 A G SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.1702 p.Y568H 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 46 0 0 29 7 19.4444 PHF16 0 genome.wustl.edu 37 X 46918268 46918268 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 46918268 46918268 G A SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known missense c.2261 p.R754Q 0.073 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 52 0 0 37 8 17.7778 MAGIX 0 genome.wustl.edu 37 X 49021219 49021219 + Missense_Mutation SNP T T A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 49021219 49021219 T A SNP MAGIX ENST00000412696 human ensembl 74_37 +1 known missense c.298 p.C100S 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 272 0 0 156 48 23.5294 GSPT2 0 genome.wustl.edu 37 X 51487096 51487096 + Missense_Mutation SNP A A T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 51487096 51487096 A T SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known missense c.374 p.N125I 0.983 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 36 0 0 18 4 18.1818 GPR173 0 genome.wustl.edu 37 X 53106765 53106765 + Missense_Mutation SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 53106765 53106765 A G SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.962 p.Y321C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 94 0 0 54 4 6.89655 HUWE1 0 genome.wustl.edu 37 X 53674486 53674486 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 53674486 53674486 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.176 p.D59G 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 208 0 0 151 31 17.033 USP51 0 genome.wustl.edu 37 X 55513608 55513608 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 55513608 55513608 G A SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.1765 p.P589S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 81 0 0 44 12 21.4286 UBQLN2 0 genome.wustl.edu 37 X 56592133 56592133 + Silent SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 56592133 56592133 C T SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known silent c.1827 p.G609 0.995 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 50 0 0 20 3 13.0435 HEPH 0 genome.wustl.edu 37 X 65420424 65420424 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 65420424 65420424 T C SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.2069 p.M690T 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 27 0 0 16 5 23.8095 OPHN1 0 genome.wustl.edu 37 X 67413750 67413750 + Missense_Mutation SNP T T C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 67413750 67413750 T C SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.1183 p.N395D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 74 0 0 36 5 12.1951 RLIM 0 genome.wustl.edu 37 X 73812324 73812324 + Missense_Mutation SNP A A C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 73812324 73812324 A C SNP RLIM ENST00000332687 human ensembl 74_37 -1 known missense c.826 p.S276A 0.246 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 144 0 0 89 7 7.29167 KIAA2022 0 genome.wustl.edu 37 X 73963911 73963911 + Missense_Mutation SNP G G C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 73963911 73963911 G C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.481 p.P161A 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 114 0 0 71 8 10.1266 ABCB7 0 genome.wustl.edu 37 X 74288920 74288920 + Silent SNP A A G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 74288920 74288920 A G SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known silent c.1584 p.G528 0.996 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 134 0 0 90 10 10 MAGEE1 0 genome.wustl.edu 37 X 75649437 75649437 + Missense_Mutation SNP G G A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 75649437 75649437 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1114 p.A372T 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 53 0 0 24 4 14.2857 SATL1 0 genome.wustl.edu 37 X 84363314 84363314 + Missense_Mutation SNP G G T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 84363314 84363314 G T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.661 p.Q221K 0.063 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 170 0 0 85 25 22.7273 PCDH19 0 genome.wustl.edu 37 X 99663156 99663156 + Missense_Mutation SNP C C T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 99663156 99663156 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.440 p.R147H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 188 0 0 123 15 10.8696 SLC35A3 0 genome.wustl.edu 37 1 100472647 100472647 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 100472647 100472647 A - DEL SLC35A3 ENST00000370153 human ensembl 74_37 +1 known frame_shift_del c.526 p.K177fs 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 54 0 0 54 7 11.4754 TNFRSF8 0 genome.wustl.edu 37 1 12198423 12198424 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 12198423 12198424 - G INS TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known frame_shift_ins c.1473_1474 p.S494fs 0.000:0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 61 0 0 52 9 14.7541 TAS1R3 0 genome.wustl.edu 37 1 1269091 1269091 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 1269091 1269091 G - DEL TAS1R3 ENST00000339381 human ensembl 74_37 +1 known frame_shift_del c.1806 p.606fs 0.012 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 25 0 0 37 5 11.9048 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 41 0 0 15 10 40 RFX5 0 genome.wustl.edu 37 1 151318741 151318741 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 151318741 151318741 G - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.56 p.P19fs 0.658 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 189 0 0 143 29 16.8605 TCHH 0 genome.wustl.edu 37 1 152080674 152080674 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 152080674 152080674 T - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_del c.5019 p.E1673fs 0.563 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 223 0 0 137 24 14.9068 HAX1 0 genome.wustl.edu 37 1 154246391 154246391 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154246391 154246391 C - DEL HAX1 ENST00000483970 human ensembl 74_37 +1 known frame_shift_del c.482 p.Q163fs 0.033 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 162 0 0 114 22 16.1765 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 34 0 0 26 8 23.5294 PYGO2 0 genome.wustl.edu 37 1 154932221 154932221 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 154932221 154932221 G - DEL PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_del c.255 p.V87fs 0.939 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 43 0 0 31 6 16.2162 KCNJ10 0 genome.wustl.edu 37 1 160012018 160012018 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 160012018 160012018 G - DEL KCNJ10 ENST00000368089 human ensembl 74_37 -1 known frame_shift_del c.305 p.P102fs 0.995 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 138 0 0 104 11 9.56522 TNR 0 genome.wustl.edu 37 1 175331808 175331809 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 175331808 175331809 - A INS TNR ENST00000263525 human ensembl 74_37 -1 known frame_shift_ins c.2845_2844 p.V948fs 0.528:0.060 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 107 0 0 79 15 15.9574 PADI3 0 genome.wustl.edu 37 1 17603075 17603075 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 17603075 17603075 C - DEL PADI3 ENST00000375460 human ensembl 74_37 +1 known frame_shift_del c.1369 p.V459fs 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 127 0 0 91 13 12.5 RASAL2 0 genome.wustl.edu 37 1 178411970 178411971 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 178411970 178411971 - T INS RASAL2 ENST00000367649 human ensembl 74_37 +1 known frame_shift_ins c.1088_1089 p.E365fs 1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 141 0 0 111 9 7.5 COLGALT2 0 genome.wustl.edu 37 1 183947595 183947595 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 183947595 183947595 T - DEL COLGALT2 ENST00000361927 human ensembl 74_37 -1 known frame_shift_del c.323 p.N108fs 0.990 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 124 0 0 98 19 16.2393 PINK1 0 genome.wustl.edu 37 1 20977094 20977094 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 20977094 20977094 A - DEL PINK1 ENST00000321556 human ensembl 74_37 +1 known frame_shift_del c.1656 p.M554fs 0.481 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 PINK1 HGNC ENSG00000158828 96 0 0 53 10 15.873 TP53BP2 0 genome.wustl.edu 37 1 223985981 223985982 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 223985981 223985982 - T INS TP53BP2 ENST00000343537 human ensembl 74_37 -1 known frame_shift_ins c.1884_1883 p.N628fs 1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 206 0 0 170 36 17.4757 CDC42BPA 0 genome.wustl.edu 37 1 227262051 227262051 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 227262051 227262051 T - DEL CDC42BPA ENST00000334218 human ensembl 74_37 -1 known frame_shift_del c.2495 p.K832fs 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 112 0 0 80 18 18.3673 DISC1 0 genome.wustl.edu 37 1 231885809 231885809 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 231885809 231885809 G - DEL DISC1 ENST00000439617 human ensembl 74_37 +1 known frame_shift_del c.1255 p.A420fs 0.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 113 0 0 82 13 13.6842 KMO 0 genome.wustl.edu 37 1 241753558 241753558 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 241753558 241753558 A - DEL KMO ENST00000366559 human ensembl 74_37 +1 known frame_shift_del c.1253 p.K420fs 1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 147 0 0 117 18 13.3333 AIM1L 0 genome.wustl.edu 37 1 26655228 26655228 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26655228 26655228 C - DEL AIM1L ENST00000527815 human ensembl 74_37 -1 known frame_shift_del c.1829 p.G610fs 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 146 0 0 105 17 13.9344 HMGN2 0 genome.wustl.edu 37 1 26800609 26800609 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 26800609 26800609 A - DEL HMGN2 ENST00000361427 human ensembl 74_37 +1 known frame_shift_del c.124 p.K43fs 1.000 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN2 HGNC ENSG00000198830 55 0 0 39 8 17.0213 EPB41 0 genome.wustl.edu 37 1 29379716 29379717 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 29379716 29379717 - A INS EPB41 ENST00000343067 human ensembl 74_37 +1 known frame_shift_ins c.1737_1738 p.T581fs 0.371:0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 74 0 0 69 11 13.75 KIAA0319L 0 genome.wustl.edu 37 1 35944603 35944603 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 35944603 35944603 G - DEL KIAA0319L ENST00000325722 human ensembl 74_37 -1 known frame_shift_del c.877 p.Q293fs 0.034 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 145 0 0 100 16 13.7931 SCMH1 0 genome.wustl.edu 37 1 41540951 41540952 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 41540951 41540952 - G INS SCMH1 ENST00000326197 human ensembl 74_37 -1 known frame_shift_ins c.888_887 p.S297fs 1.000:1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 242 0 0 171 33 16.1765 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 21 0 0 14 10 41.6667 ZCCHC11 0 genome.wustl.edu 37 1 52941046 52941047 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 52941046 52941047 - C INS ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_ins c.2185_2184 p.K728fs 0.998:0.995 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 220 0 0 195 17 8.01887 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 49 0 0 26 10 27.7778 ALG6 0 genome.wustl.edu 37 1 63876949 63876950 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 63876949 63876950 - T INS ALG6 ENST00000371108 human ensembl 74_37 +1 known frame_shift_ins c.627_628 p.C211fs 0.957:1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 120 0 0 90 15 14.2857 TNFRSF9 0 genome.wustl.edu 37 1 7998254 7998254 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 7998254 7998254 T - DEL TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.019 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 169 0 0 124 9 6.76692 RERE 0 genome.wustl.edu 37 1 8674690 8674690 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 8674690 8674690 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.452 p.P151fs 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 173 0 0 162 9 5.26316 GBP1 0 genome.wustl.edu 37 1 89521895 89521895 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 89521895 89521895 T - DEL GBP1 ENST00000370473 human ensembl 74_37 -1 known frame_shift_del c.1172 p.K391fs 0.019 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 138 0 0 110 10 8.33333 GBP2 0 genome.wustl.edu 37 1 89579764 89579765 + Frame_Shift_Ins INS - - CT TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 89579764 89579765 - CT INS GBP2 ENST00000370466 human ensembl 74_37 -1 known frame_shift_ins c.1084_1083 p.A361fs 1.000:1.000 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 GBP2 HGNC ENSG00000162645 182 0 0 134 31 18.7879 SPSB1 0 genome.wustl.edu 37 1 9416276 9416276 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 1 9416276 9416276 G - DEL SPSB1 ENST00000328089 human ensembl 74_37 +1 known frame_shift_del c.326 p.G110fs 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 196 0 0 148 29 16.3842 SH3PXD2A 0 genome.wustl.edu 37 10 105484098 105484098 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 105484098 105484098 G - DEL SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_del c.328 p.H110fs 0.989 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 65 0 0 43 7 14 TDRD1 0 genome.wustl.edu 37 10 115986880 115986880 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 115986880 115986880 A - DEL TDRD1 ENST00000251864 human ensembl 74_37 +1 known frame_shift_del c.3225 p.N1077fs 0.327 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 43 0 0 43 11 20.3704 NUDT5 0 genome.wustl.edu 37 10 12219815 12219815 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 12219815 12219815 C - DEL NUDT5 ENST00000378937 human ensembl 74_37 -1 known frame_shift_del c.305 p.G102fs 0.960 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT5 HGNC ENSG00000165609 47 0 0 42 10 19.2308 ATE1 0 genome.wustl.edu 37 10 123600765 123600765 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 123600765 123600765 G - DEL ATE1 ENST00000224652 human ensembl 74_37 -1 known frame_shift_del c.989 p.P330fs 0.149 pfam_Arg-tRNA-P_Trfase_C,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 24 0 0 20 7 25.9259 BMI1 0 genome.wustl.edu 37 10 22617601 22617601 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 22617601 22617601 A - DEL BMI1 ENST00000376663 human ensembl 74_37 +1 known frame_shift_del c.544 p.M183fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 108 0 0 78 7 8.23529 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 49 0 0 27 10 27.027 ZNF365 0 genome.wustl.edu 37 10 64159513 64159514 + Frame_Shift_Del DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 64159513 64159514 AA - DEL ZNF365 ENST00000395254 human ensembl 74_37 +1 known frame_shift_del c.1189_1190 p.K399fs 1.000:1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 49 0 0 49 7 12.5 COL13A1 0 genome.wustl.edu 37 10 71690203 71690203 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 71690203 71690203 C - DEL COL13A1 ENST00000356340 human ensembl 74_37 +1 known frame_shift_del c.1545 p.P517fs 0.979 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 42 0 0 47 10 17.5439 GLUD1 0 genome.wustl.edu 37 10 88854379 88854379 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 88854379 88854379 G - DEL GLUD1 ENST00000277865 human ensembl 74_37 -1 known frame_shift_del c.148 p.R50fs 0.918 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 110 0 0 119 7 5.55556 CEP55 0 genome.wustl.edu 37 10 95259896 95259896 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 95259896 95259896 T - DEL CEP55 ENST00000371485 human ensembl 74_37 +1 known frame_shift_del c.88 p.L30fs 0.999 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 339 0 0 265 21 7.34266 R3HCC1L 0 genome.wustl.edu 37 10 99968034 99968035 + Frame_Shift_Del DEL TC TC - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 10 99968034 99968035 TC - DEL R3HCC1L ENST00000370584 human ensembl 74_37 +1 known frame_shift_del c.163_164 p.S57fs 0.001:0.003 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 97 0 0 89 17 16.0377 NPAT 0 genome.wustl.edu 37 11 108032847 108032847 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 108032847 108032847 T - DEL NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_del c.3071 p.T1025fs 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 120 0 0 60 14 18.9189 C11orf57 0 genome.wustl.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 111953289 111953289 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.475 p.K161fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 66 0 0 55 8 12.6984 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 126 0 0 95 16 14.4144 PRMT3 0 genome.wustl.edu 37 11 20409659 20409659 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 20409659 20409659 C - DEL PRMT3 ENST00000331079 human ensembl 74_37 +1 known frame_shift_del c.123 p.H43fs 0.025 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 74 0 0 72 10 12.1951 IFITM1 0 genome.wustl.edu 37 11 314210 314210 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 314210 314210 C - DEL IFITM1 ENST00000328221 human ensembl 74_37 +1 known frame_shift_del c.40 p.S16fs 0.007 NULL pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 168 0 0 116 20 14.7059 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 172 0 0 131 27 17.0886 OR51I1 0 genome.wustl.edu 37 11 5462721 5462721 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 5462721 5462721 G - DEL OR51I1 ENST00000380211 human ensembl 74_37 -1 known frame_shift_del c.24 p.F9fs 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 94 0 0 63 16 20.2532 OR4P4 0 genome.wustl.edu 37 11 55406141 55406142 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 55406141 55406142 - T INS OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_ins c.308_309 p.G106fs 0.416:0.097 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 157 0 0 111 27 19.5652 DDB1 0 genome.wustl.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 61094367 61094368 - G INS DDB1 ENST00000301764 human ensembl 74_37 -1 known splice_site_ins c.550-3_550-2 e5-2 1.000:0.070 - - - no_errors DDB1 HGNC ENSG00000167986 145 0 0 95 22 18.8034 SLC22A6 0 genome.wustl.edu 37 11 62749334 62749334 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 62749334 62749334 A - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.777 p.F259fs 0.986 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 33 0 0 15 12 44.4444 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 152 0 0 127 26 16.9935 LTBP3 0 genome.wustl.edu 37 11 65314283 65314283 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 65314283 65314283 C - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_del c.2216 p.G739fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 82 0 0 60 17 22.0779 KLC2 0 genome.wustl.edu 37 11 66033664 66033664 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 66033664 66033664 C - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1703 p.Q570fs 0.984 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 98 0 0 69 10 12.6582 NUMA1 0 genome.wustl.edu 37 11 71746965 71746965 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 71746965 71746965 C - DEL NUMA1 ENST00000393695 human ensembl 74_37 -1 known frame_shift_del c.25 p.A9fs 0.393 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 134 0 0 110 6 5.17241 RELT 0 genome.wustl.edu 37 11 73101832 73101832 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 73101832 73101832 C - DEL RELT ENST00000064780 human ensembl 74_37 +1 known frame_shift_del c.153 p.P53fs 0.993 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 158 0 0 114 18 13.6364 CAPN5 0 genome.wustl.edu 37 11 76823777 76823779 + In_Frame_Del DEL TCA TCA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 11 76823777 76823779 TCA - DEL CAPN5 ENST00000278559 human ensembl 74_37 +1 known in_frame_del c.440_442 p.I148in_frame_del 1.000:1.000:1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 66 0 0 34 8 19.0476 ANO4 0 genome.wustl.edu 37 12 101333221 101333221 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 101333221 101333221 G - DEL ANO4 ENST00000392977 human ensembl 74_37 +1 known frame_shift_del c.289 p.G98fs 0.555 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 91 0 0 51 8 13.5593 KLRK1 0 genome.wustl.edu 37 12 10532376 10532376 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 10532376 10532376 A - DEL KLRK1 ENST00000240618 human ensembl 74_37 -1 known frame_shift_del c.164 p.F55fs 0.002 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 41 0 0 19 8 29.6296 SSH1 0 genome.wustl.edu 37 12 109186436 109186436 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109186436 109186436 G - DEL SSH1 ENST00000326495 human ensembl 74_37 -1 known frame_shift_del c.1519 p.L507fs 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 122 0 0 97 12 11.0092 SSH1 0 genome.wustl.edu 37 12 109194657 109194657 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 109194657 109194657 A - DEL SSH1 ENST00000326495 human ensembl 74_37 -1 known frame_shift_del c.1047 p.P350fs 0.994 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 129 0 0 115 17 12.8788 CCDC63 0 genome.wustl.edu 37 12 111311659 111311659 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 111311659 111311659 A - DEL CCDC63 ENST00000308208 human ensembl 74_37 +1 known frame_shift_del c.383 p.I131fs 0.872 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 105 0 0 70 6 7.89474 NOS1 0 genome.wustl.edu 37 12 117681194 117681194 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 117681194 117681194 T - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2870 p.K957fs 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 132 0 0 78 22 22 GCN1L1 0 genome.wustl.edu 37 12 120599364 120599364 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 120599364 120599364 T - DEL GCN1L1 ENST00000300648 human ensembl 74_37 -1 known frame_shift_del c.2366 p.K789fs 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 166 0 0 129 22 14.5695 STX2 0 genome.wustl.edu 37 12 131283099 131283100 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 131283099 131283100 - T INS STX2 ENST00000392373 human ensembl 74_37 -1 known frame_shift_ins c.757_756 p.A252fs 1.000:0.955 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 126 0 0 78 15 16.129 SFSWAP 0 genome.wustl.edu 37 12 132238940 132238940 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 132238940 132238940 C - DEL SFSWAP ENST00000261674 human ensembl 74_37 +1 known frame_shift_del c.1350 p.P452fs 0.976 superfamily_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 66 0 0 53 5 8.62069 GUCY2C 0 genome.wustl.edu 37 12 14778829 14778829 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 14778829 14778829 T - DEL GUCY2C ENST00000261170 human ensembl 74_37 -1 known frame_shift_del c.2270 p.N757fs 0.989 superfamily_Kinase-like_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 84 0 0 48 12 20 PLEKHA5 0 genome.wustl.edu 37 12 19410381 19410381 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 19410381 19410381 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.447 p.V152fs 0.510 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 93 0 0 88 16 15.3846 GYS2 0 genome.wustl.edu 37 12 21712605 21712605 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 21712605 21712605 T - DEL GYS2 ENST00000261195 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K403fs 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 52 0 0 24 6 20 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 123 0 0 59 29 32.9545 PCED1B 0 genome.wustl.edu 37 12 47628998 47628998 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 47628998 47628998 G - DEL PCED1B ENST00000432328 human ensembl 74_37 +1 known frame_shift_del c.152 p.E53fs 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 46 0 0 55 14 20.2899 ADCY6 0 genome.wustl.edu 37 12 49162414 49162415 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 49162414 49162415 - C INS ADCY6 ENST00000307885 human ensembl 74_37 -1 known frame_shift_ins c.3467_3466 p.E1156fs 1.000:1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 78 0 0 47 16 25.3968 LEPREL2 0 genome.wustl.edu 37 12 6939061 6939063 + In_Frame_Del DEL CTT CTT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 6939061 6939063 CTT - DEL LEPREL2 ENST00000396725 human ensembl 74_37 +1 known in_frame_del c.534_536 p.F180in_frame_del 1.000:1.000:1.000 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 227 0 0 205 25 10.8696 A2ML1 0 genome.wustl.edu 37 12 9021138 9021139 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 9021138 9021139 - G INS A2ML1 ENST00000299698 human ensembl 74_37 +1 known frame_shift_ins c.4067_4068 p.S1358fs 0.989:0.998 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 177 0 0 129 9 6.52174 FGD6 0 genome.wustl.edu 37 12 95535227 95535228 + In_Frame_Ins INS - - AGT TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 95535227 95535228 - AGT INS FGD6 ENST00000343958 human ensembl 74_37 -1 known in_frame_ins c.2774_2773 p.925in_frame_insY 1.000:0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 103 0 0 84 12 12.5 AMDHD1 0 genome.wustl.edu 37 12 96348701 96348702 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 12 96348701 96348702 CA - DEL AMDHD1 ENST00000266736 human ensembl 74_37 +1 known frame_shift_del c.257_258 p.H89fs 1.000:0.365 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 83 0 0 66 8 10.8108 ZMYM5 0 genome.wustl.edu 37 13 20399261 20399261 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 20399261 20399261 T - DEL ZMYM5 ENST00000337963 human ensembl 74_37 -1 known frame_shift_del c.1366 p.I456fs 0.018 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 21 0 0 22 7 24.1379 LATS2 0 genome.wustl.edu 37 13 21555716 21555716 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 21555716 21555716 C - DEL LATS2 ENST00000382592 human ensembl 74_37 -1 known frame_shift_del c.2554 p.D852fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 65 0 0 31 12 27.907 ANKRD20A19P 0 genome.wustl.edu 37 13 24515468 24515468 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 24515468 24515468 T - DEL ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 135 0 0 88 15 14.5631 GTF2F2 0 genome.wustl.edu 37 13 45725872 45725872 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 45725872 45725872 A - DEL GTF2F2 ENST00000340473 human ensembl 74_37 +1 known frame_shift_del c.210 p.K71fs 0.998 pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 148 0 0 137 24 14.9068 PTMAP5 0 genome.wustl.edu 37 13 82264963 82264963 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 82264963 82264963 A - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMAP5 HGNC ENSG00000214182 81 0 0 50 11 18.0328 GPR180 0 genome.wustl.edu 37 13 95264512 95264512 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 13 95264512 95264512 T - DEL GPR180 ENST00000376958 human ensembl 74_37 +1 known frame_shift_del c.373 p.Y126fs 1.000 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 122 0 0 117 19 13.9706 BRF1 0 genome.wustl.edu 37 14 105693010 105693010 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 105693010 105693010 G - DEL BRF1 ENST00000546474 human ensembl 74_37 -1 known frame_shift_del c.876 p.S293fs 0.896 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 135 0 0 112 19 14.5038 CHD8 0 genome.wustl.edu 37 14 21868426 21868426 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 21868426 21868426 T - DEL CHD8 ENST00000399982 human ensembl 74_37 -1 known frame_shift_del c.4611 p.V1538fs 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 61 0 0 49 7 12.5 DDHD1 0 genome.wustl.edu 37 14 53513552 53513552 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 53513552 53513552 A - DEL DDHD1 ENST00000323669 human ensembl 74_37 -1 known frame_shift_del c.2637 p.L880fs 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 91 0 0 84 7 7.69231 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 81 0 0 48 8 14.2857 KCNH5 0 genome.wustl.edu 37 14 63174814 63174814 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 14 63174814 63174814 T - DEL KCNH5 ENST00000322893 human ensembl 74_37 -1 known frame_shift_del c.2379 p.K793fs 0.995 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 82 0 0 63 13 17.1053 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 195 0 0 130 23 15.0327 SNORD116-8 0 genome.wustl.edu 37 15 25315599 25315599 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 25315599 25315599 A - DEL SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 145 0 0 124 13 9.48905 TRPM1 0 genome.wustl.edu 37 15 31359302 31359303 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 31359302 31359303 - C INS TRPM1 ENST00000542188 human ensembl 74_37 -1 known frame_shift_ins c.633_632 p.I212fs 1.000:1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 151 0 0 109 28 20.438 THBS1 0 genome.wustl.edu 37 15 39874929 39874929 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 39874929 39874929 G - DEL THBS1 ENST00000260356 human ensembl 74_37 +1 known frame_shift_del c.603 p.G203fs 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 73 0 0 41 7 14.5833 B2M 0 genome.wustl.edu 37 15 45007753 45007753 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 45007753 45007753 A - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.200 p.V69fs 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 163 0 0 115 36 23.8411 SLC24A5 0 genome.wustl.edu 37 15 48434400 48434400 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 48434400 48434400 T - DEL SLC24A5 ENST00000341459 human ensembl 74_37 +1 known frame_shift_del c.1355 p.L454fs 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 119 0 0 73 16 17.9775 ZNF280D 0 genome.wustl.edu 37 15 56923914 56923917 + Frame_Shift_Del DEL AACT AACT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AACT AACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 56923914 56923917 AACT - DEL ZNF280D ENST00000267807 human ensembl 74_37 -1 known frame_shift_del c.2722_2719 p.S907fs 1.000:1.000:0.999:0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 112 0 0 91 19 17.2727 ADAM10 0 genome.wustl.edu 37 15 59009803 59009803 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 59009803 59009803 A - DEL ADAM10 ENST00000260408 human ensembl 74_37 -1 known frame_shift_del c.179 p.L60fs 1.000 pfam_Peptidase_M12B_N 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 62 0 0 55 8 12.6984 LRRC49 0 genome.wustl.edu 37 15 71197048 71197049 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 71197048 71197049 - T INS LRRC49 ENST00000260382 human ensembl 74_37 +1 known frame_shift_ins c.454_455 p.S153fs 0.999:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 251 0 0 196 37 15.8798 UBE2Q2 0 genome.wustl.edu 37 15 76189396 76189396 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 76189396 76189396 A - DEL UBE2Q2 ENST00000267938 human ensembl 74_37 +1 known frame_shift_del c.1090 p.N365fs 1.000 NULL pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 90 0 0 75 9 10.7143 SCAPER 0 genome.wustl.edu 37 15 77025671 77025673 + In_Frame_Del DEL CAT CAT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 77025671 77025673 CAT - DEL SCAPER ENST00000324767 human ensembl 74_37 -1 known in_frame_del c.1921_1919 p.D640in_frame_del 1.000:1.000:1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 46 0 0 28 6 17.6471 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 96 0 0 64 21 24.7059 FAM154B 0 genome.wustl.edu 37 15 82564107 82564107 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 82564107 82564107 A - DEL FAM154B ENST00000339465 human ensembl 74_37 +1 known frame_shift_del c.217 p.G75fs 0.020 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 86 0 0 66 14 17.5 TM6SF1 0 genome.wustl.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 83805312 83805312 T - DEL TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_del c.1010 p.L339fs 0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 126 0 0 89 24 21.2389 PDE8A 0 genome.wustl.edu 37 15 85634360 85634360 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 85634360 85634360 A - DEL PDE8A ENST00000310298 human ensembl 74_37 +1 known frame_shift_del c.800 p.K269fs 1.000 pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 81 0 0 36 8 18.1818 POLG 0 genome.wustl.edu 37 15 89876439 89876439 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 15 89876439 89876439 C - DEL POLG ENST00000268124 human ensembl 74_37 -1 known frame_shift_del c.547 p.E183fs 0.999 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 44 0 0 26 8 23.5294 KNOP1 0 genome.wustl.edu 37 16 19725891 19725891 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 19725891 19725891 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.467 p.K156fs 0.673 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 111 0 0 88 8 8.33333 DCTN5 0 genome.wustl.edu 37 16 23652886 23652888 + In_Frame_Del DEL ACA ACA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 23652886 23652888 ACA - DEL DCTN5 ENST00000300087 human ensembl 74_37 +1 known in_frame_del c.23_25 p.N9in_frame_del 1.000:1.000:1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN5 HGNC ENSG00000166847 78 0 0 48 9 15.7895 TNRC6A 0 genome.wustl.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 24807240 24807240 A - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known frame_shift_del c.3541 p.R1183fs 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 211 0 0 122 26 17.5676 PRSS21 0 genome.wustl.edu 37 16 2871562 2871562 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 2871562 2871562 T - DEL PRSS21 ENST00000005995 human ensembl 74_37 +1 known frame_shift_del c.901 p.F302fs 0.001 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS21 HGNC ENSG00000007038 120 0 0 73 10 12.0482 ATXN2L 0 genome.wustl.edu 37 16 28845493 28845495 + In_Frame_Del DEL CTC CTC - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 28845493 28845495 CTC - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known in_frame_del c.2133_2135 p.S712in_frame_del 0.999:1.000:1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 121 0 0 102 9 8.10811 ITFG3 0 genome.wustl.edu 37 16 304581 304581 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 304581 304581 T - DEL ITFG3 ENST00000301678 human ensembl 74_37 +1 known frame_shift_del c.169 p.L58fs 0.811 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 400 0 0 287 60 17.2911 ITGAD 0 genome.wustl.edu 37 16 31418869 31418869 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 31418869 31418869 A - DEL ITGAD ENST00000389202 human ensembl 74_37 +1 known frame_shift_del c.738 p.S248fs 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 101 0 0 77 12 13.4831 TIGD7 0 genome.wustl.edu 37 16 3349406 3349408 + In_Frame_Del DEL AAG AAG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3349406 3349408 AAG - DEL TIGD7 ENST00000268674 human ensembl 74_37 -1 known in_frame_del c.1209_1207 p.L403in_frame_del 1.000:1.000:1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 202 0 0 125 27 17.7632 ZNF597 0 genome.wustl.edu 37 16 3487150 3487150 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 3487150 3487150 T - DEL ZNF597 ENST00000301744 human ensembl 74_37 -1 known frame_shift_del c.549 p.K183fs 0.003 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 - no_errors ZNF597 HGNC ENSG00000167981 253 0 0 186 34 15.4545 NME4 0 genome.wustl.edu 37 16 450249 450249 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 450249 450249 G - DEL NME4 ENST00000444498 human ensembl 74_37 +1 known frame_shift_del c.471 p.A159fs 0.453 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME4 HGNC ENSG00000103202 119 0 0 66 18 21.4286 CNGB1 0 genome.wustl.edu 37 16 57994752 57994753 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 57994752 57994753 - T INS CNGB1 ENST00000251102 human ensembl 74_37 -1 known frame_shift_ins c.526_525 p.S175fs 0.000:0.001 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 46 0 0 41 7 14.5833 VPS4A 0 genome.wustl.edu 37 16 69353327 69353328 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 69353327 69353328 - C INS VPS4A ENST00000254950 human ensembl 74_37 +1 known frame_shift_ins c.501_502 p.G169fs 0.892:1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 123 0 0 83 18 17.8218 WDR90 0 genome.wustl.edu 37 16 715651 715651 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 715651 715651 C - DEL WDR90 ENST00000315764 human ensembl 74_37 +1 known frame_shift_del c.81 p.Q29fs 0.011 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 133 0 0 93 16 14.6789 TERF2IP 0 genome.wustl.edu 37 16 75690320 75690320 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 75690320 75690320 A - DEL TERF2IP ENST00000300086 human ensembl 74_37 +1 known frame_shift_del c.1011 p.N339fs 0.723 NULL pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 341 0 0 252 44 14.8649 MON1B 0 genome.wustl.edu 37 16 77228315 77228316 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 16 77228315 77228316 - G INS MON1B ENST00000248248 human ensembl 74_37 +1 known frame_shift_ins c.559_560 p.E189fs 0.992:0.988 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 200 0 0 144 26 15.2941 MYOCD 0 genome.wustl.edu 37 17 12626278 12626278 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 12626278 12626278 A - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.368 p.N125fs 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 298 0 0 217 20 8.43882 MIEF2 0 genome.wustl.edu 37 17 18166173 18166173 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 18166173 18166173 G - DEL MIEF2 ENST00000323019 human ensembl 74_37 +1 known frame_shift_del c.139 p.V47fs 1.000 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 62 0 0 68 10 12.8205 GIT1 0 genome.wustl.edu 37 17 27903235 27903236 + Splice_Site DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 27903235 27903236 CA - DEL GIT1 ENST00000394869 human ensembl 74_37 -1 known splice_site_del c.1638+2_1638+1 e15+2 1.000:1.000 - - - no_errors GIT1 HGNC ENSG00000108262 226 0 0 166 26 13.5417 ATAD5 0 genome.wustl.edu 37 17 29161911 29161912 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 29161911 29161912 - A INS ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_ins c.812_813 p.S273fs 0.998:0.995 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 70 0 0 53 18 25.3521 CCT6B 0 genome.wustl.edu 37 17 33255998 33255998 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33255998 33255998 T - DEL CCT6B ENST00000314144 human ensembl 74_37 -1 known frame_shift_del c.1506 p.K502fs 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 78 0 0 79 7 8.13953 LIG3 0 genome.wustl.edu 37 17 33318078 33318078 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 33318078 33318078 T - DEL LIG3 ENST00000378526 human ensembl 74_37 +1 known frame_shift_del c.986 p.F330fs 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 134 0 0 97 24 19.8347 STAT5B 0 genome.wustl.edu 37 17 40362446 40362447 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40362446 40362447 - T INS STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_ins c.1750_1749 p.H583fs 1.000:0.969 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 166 0 0 136 30 18.0723 CNTD1 0 genome.wustl.edu 37 17 40957798 40957800 + In_Frame_Del DEL AAG AAG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 40957798 40957800 AAG - DEL CNTD1 ENST00000588408 human ensembl 74_37 +1 known in_frame_del c.476_478 p.E161in_frame_del 1.000:1.000:1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC ENSG00000176563 63 0 0 47 9 16.0714 PLEKHM1 0 genome.wustl.edu 37 17 43531274 43531274 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 43531274 43531274 G - DEL PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known frame_shift_del c.1944 p.E649fs 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 122 0 0 85 31 26.7241 SPAG9 0 genome.wustl.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 49077041 49077041 T - DEL SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_del c.1645 p.R549fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 53 0 0 39 14 26.4151 PHF23 0 genome.wustl.edu 37 17 7139880 7139880 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7139880 7139880 G - DEL PHF23 ENST00000320316 human ensembl 74_37 -1 known frame_shift_del c.366 p.D123fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 187 0 0 141 9 6 EFNB3 0 genome.wustl.edu 37 17 7611436 7611436 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 7611436 7611436 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.283 p.P96fs 0.825 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 214 0 0 177 41 18.8073 FASN 0 genome.wustl.edu 37 17 80043164 80043165 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 80043164 80043165 - G INS FASN ENST00000306749 human ensembl 74_37 -1 known frame_shift_ins c.4237_4236 p.I1412fs 0.020:0.038 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 31 0 0 44 10 18.5185 PIK3R6 0 genome.wustl.edu 37 17 8732149 8732149 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 17 8732149 8732149 C - DEL PIK3R6 ENST00000311434 human ensembl 74_37 -1 known frame_shift_del c.1048 p.A350fs 0.026 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 58 0 0 35 6 14.6341 CEP76 0 genome.wustl.edu 37 18 12699829 12699829 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 12699829 12699829 T - DEL CEP76 ENST00000262127 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 1.000 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 23 0 0 4 3 42.8571 ZNF521 0 genome.wustl.edu 37 18 22806910 22806910 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 18 22806910 22806910 T - DEL ZNF521 ENST00000361524 human ensembl 74_37 -1 known frame_shift_del c.972 p.E324fs 0.944 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 57 0 0 51 9 15 TMED1 0 genome.wustl.edu 37 19 10946798 10946798 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 10946798 10946798 C - DEL TMED1 ENST00000214869 human ensembl 74_37 -1 known frame_shift_del c.70 p.A24fs 0.997 NULL pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 10 0 0 7 3 30 CCDC151 0 genome.wustl.edu 37 19 11541818 11541818 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 11541818 11541818 A - DEL CCDC151 ENST00000356392 human ensembl 74_37 -1 known frame_shift_del c.267 p.F89fs 0.964 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 256 0 0 187 39 17.2566 GCDH 0 genome.wustl.edu 37 19 13007123 13007123 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 13007123 13007123 C - DEL GCDH ENST00000222214 human ensembl 74_37 +1 known frame_shift_del c.740 p.R249fs 0.998 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 110 0 0 83 8 8.79121 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 57 0 0 35 8 18.6047 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL 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 ZNF506 HGNC ENSG00000081665 97 0 0 84 16 16 C19orf12 0 genome.wustl.edu 37 19 30193867 30193868 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 30193867 30193868 - C INS C19orf12 ENST00000392278 human ensembl 74_37 -1 known frame_shift_ins c.211_210 p.L70fs 0.032:0.004 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 181 0 0 153 17 10 TSHZ3 0 genome.wustl.edu 37 19 31769142 31769142 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 31769142 31769142 C - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1557 p.D521fs 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 305 0 0 224 17 7.05394 ZNF461 0 genome.wustl.edu 37 19 37130626 37130626 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 37130626 37130626 A - DEL ZNF461 ENST00000588268 human ensembl 74_37 -1 known frame_shift_del c.621 p.F207fs 0.446 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 ZNF461 HGNC ENSG00000197808 80 0 0 73 11 13.0952 C19orf47 0 genome.wustl.edu 37 19 40827881 40827881 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 40827881 40827881 G - DEL C19orf47 ENST00000582783 human ensembl 74_37 -1 known frame_shift_del c.1177 p.R393fs 0.988 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 105 0 0 72 11 13.253 CEACAM5 0 genome.wustl.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 42224865 42224866 - C INS CEACAM5 ENST00000221992 human ensembl 74_37 +1 known frame_shift_ins c.1795_1796 p.D602fs 0.002:0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 279 0 0 264 29 9.89761 IRGQ 0 genome.wustl.edu 37 19 44096695 44096695 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 44096695 44096695 G - DEL IRGQ ENST00000422989 human ensembl 74_37 -1 known frame_shift_del c.1355 p.P452fs 0.012 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 82 0 0 42 11 20.7547 TSKS 0 genome.wustl.edu 37 19 50243064 50243064 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 50243064 50243064 G - DEL TSKS ENST00000246801 human ensembl 74_37 -1 known frame_shift_del c.1748 p.P583fs 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 149 0 0 121 25 17.1233 PPP1R12C 0 genome.wustl.edu 37 19 55607456 55607456 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 55607456 55607456 G - DEL PPP1R12C ENST00000263433 human ensembl 74_37 -1 known frame_shift_del c.1116 p.I373fs 0.157 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 176 0 0 107 24 18.3206 SAFB2 0 genome.wustl.edu 37 19 5590306 5590306 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5590306 5590306 C - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2508 p.L837fs 0.389 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 24 0 0 7 4 36.3636 HSD11B1L 0 genome.wustl.edu 37 19 5684870 5684870 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 5684870 5684870 G - DEL HSD11B1L ENST00000423665 human ensembl 74_37 +1 known frame_shift_del c.27 p.A11fs 0.998 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1L HGNC ENSG00000167733 120 0 0 95 11 10.3774 ZNF358 0 genome.wustl.edu 37 19 7585312 7585321 + Frame_Shift_Del DEL GGGTGCATGA GGGTGCATGA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 GGGTGCATGA GGGTGCATGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 7585312 7585321 GGGTGCATGA - DEL ZNF358 ENST00000394341 human ensembl 74_37 +1 known frame_shift_del c.1184_1193 p.H397fs 1.000:0.941:0.998:0.999:1.000:1.000:0.999:0.971:0.999:0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 46 0 0 32 7 17.9487 MUC16 0 genome.wustl.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9064309 9064310 - G INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.23137_23136 p.S7712fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 116 0 0 70 17 19.5402 OR7G2 0 genome.wustl.edu 37 19 9213598 9213599 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 19 9213598 9213599 - A INS OR7G2 ENST00000305456 human ensembl 74_37 -1 known frame_shift_ins c.385_384 p.A128fs 0.001:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 98 0 0 86 15 14.8515 EIF5B 0 genome.wustl.edu 37 2 100015270 100015270 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 100015270 100015270 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.3453 p.G1154fs 0.958 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 35 0 0 33 9 21.4286 R3HDM1 0 genome.wustl.edu 37 2 136409465 136409467 + In_Frame_Del DEL CCG CCG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 136409465 136409467 CCG - DEL R3HDM1 ENST00000264160 human ensembl 74_37 +1 known in_frame_del c.1786_1788 p.P599in_frame_del 0.334:0.332:0.014 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 118 0 0 94 12 11.3208 KCNH7 0 genome.wustl.edu 37 2 163230098 163230098 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 163230098 163230098 G - DEL KCNH7 ENST00000332142 human ensembl 74_37 -1 known frame_shift_del c.3206 p.P1069fs 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 87 0 0 44 9 16.9811 PXDN 0 genome.wustl.edu 37 2 1652960 1652960 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 1652960 1652960 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2592 p.N865fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 64 0 0 46 8 14.8148 XIRP2 0 genome.wustl.edu 37 2 168115749 168115750 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 168115749 168115750 - T INS XIRP2 ENST00000420519 human ensembl 74_37 +1 known frame_shift_ins c.2792_2793 p.D933fs 0.000:0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 161 0 0 94 16 14.5455 HECW2 0 genome.wustl.edu 37 2 197085637 197085637 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 197085637 197085637 C - DEL HECW2 ENST00000260983 human ensembl 74_37 -1 known frame_shift_del c.4175 p.G1392fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 155 0 0 135 13 8.78378 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 56 0 0 51 12 19.0476 APOB 0 genome.wustl.edu 37 2 21231146 21231146 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 21231146 21231146 T - DEL APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_del c.8594 p.N2865fs 0.991 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 282 0 0 184 34 15.5963 APOB 0 genome.wustl.edu 37 2 21238075 21238076 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 21238075 21238076 - T INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.3566_3565 p.M1189fs 0.002:0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 96 0 0 78 16 17.0213 SH3YL1 0 genome.wustl.edu 37 2 234180 234181 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 234180 234181 CA - DEL SH3YL1 ENST00000356150 human ensembl 74_37 -1 known frame_shift_del c.384_383 p.V128fs 1.000:1.000 pfam_Ysc84_actin-binding pfam_Ysc84_actin-binding,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3YL1 HGNC ENSG00000035115 188 0 0 154 27 14.9171 EHD3 0 genome.wustl.edu 37 2 31483592 31483593 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 31483592 31483593 - G INS EHD3 ENST00000322054 human ensembl 74_37 +1 known frame_shift_ins c.719_720 p.K242fs 1.000:1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 98 0 0 70 16 18.6047 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 62 0 0 71 9 11.25 TET3 0 genome.wustl.edu 37 2 74275221 74275222 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 74275221 74275222 - C INS TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_ins c.1772_1773 p.S594fs 0.873:0.921 NULL NULL - no_errors TET3 HGNC ENSG00000187605 67 0 0 52 7 11.8644 ASAP2 0 genome.wustl.edu 37 2 9528643 9528643 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 9528643 9528643 C - DEL ASAP2 ENST00000281419 human ensembl 74_37 +1 known frame_shift_del c.2351 p.P786fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 75 0 0 48 10 17.2414 MRPS5 0 genome.wustl.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 95775728 95775728 T - DEL MRPS5 ENST00000272418 human ensembl 74_37 -1 known frame_shift_del c.336 p.G113fs 0.999 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 146 0 0 105 30 22.2222 ADAM17 0 genome.wustl.edu 37 2 9630312 9630313 + Frame_Shift_Del DEL CT CT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 9630312 9630313 CT - DEL ADAM17 ENST00000310823 human ensembl 74_37 -1 known frame_shift_del c.2469_2468 p.E823fs 1.000:1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 53 0 0 44 7 13.7255 ADRA2B 0 genome.wustl.edu 37 2 96781253 96781253 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 2 96781253 96781253 C - DEL ADRA2B ENST00000409345 human ensembl 74_37 -1 known frame_shift_del c.636 p.P213fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 49 0 0 50 8 13.7931 DEFB127 0 genome.wustl.edu 37 20 139554 139555 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 139554 139555 - A INS DEFB127 ENST00000382388 human ensembl 74_37 +1 known frame_shift_ins c.189_190 p.I65fs 0.035:0.054 NULL NULL - no_errors DEFB127 HGNC ENSG00000088782 54 0 0 54 8 12.9032 CDK5RAP1 0 genome.wustl.edu 37 20 31961920 31961920 + Splice_Site DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 31961920 31961920 C - DEL CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known splice_site_del c.1247+1 e9+1 1.000 - - - no_errors CDK5RAP1 HGNC ENSG00000101391 178 0 0 159 34 17.6166 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 112 0 0 71 11 13.4146 CTSA 0 genome.wustl.edu 37 20 44526408 44526409 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 20 44526408 44526409 - G INS CTSA ENST00000372484 human ensembl 74_37 +1 known frame_shift_ins c.1271_1272 p.D426fs 1.000:1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 159 0 0 112 18 13.8462 BRWD1 0 genome.wustl.edu 37 21 40558989 40558989 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 21 40558989 40558989 A - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.6926 p.L2309fs 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 135 0 0 73 14 16.092 SNAP29 0 genome.wustl.edu 37 22 21242091 21242091 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 21242091 21242091 A - DEL SNAP29 ENST00000215730 human ensembl 74_37 +1 known frame_shift_del c.744 p.S250fs 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP29 HGNC ENSG00000099940 108 0 0 65 16 19.7531 MN1 0 genome.wustl.edu 37 22 28196403 28196403 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 28196403 28196403 C - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known frame_shift_del c.129 p.P45fs 0.973 NULL NULL - no_errors MN1 HGNC ENSG00000169184 117 0 0 112 11 8.94309 GAS2L1 0 genome.wustl.edu 37 22 29708396 29708396 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 29708396 29708396 C - DEL GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative frame_shift_del c.1275 p.R427fs 0.987 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 70 0 0 49 11 18.3333 FAM83F 0 genome.wustl.edu 37 22 40417669 40417670 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 40417669 40417670 - C INS FAM83F ENST00000333407 human ensembl 74_37 +1 known frame_shift_ins c.1155_1156 p.V387fs 0.968:1.000 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 80 0 0 64 7 9.85915 ACO2 0 genome.wustl.edu 37 22 41923962 41923964 + In_Frame_Del DEL ACA ACA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 41923962 41923964 ACA - DEL ACO2 ENST00000216254 human ensembl 74_37 +1 known in_frame_del c.2144_2146 p.N716in_frame_del 1.000:1.000:1.000 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 338 0 0 230 18 7.25806 TCF20 0 genome.wustl.edu 37 22 42606139 42606139 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 42606139 42606139 A - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5173 p.Y1725fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 172 0 0 127 19 13.0137 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 81 0 0 46 16 25.8065 PLXNB2 0 genome.wustl.edu 37 22 50718488 50718489 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 22 50718488 50718489 CA - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.4188_4187 p.V1396fs 1.000:1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 101 0 0 65 11 14.4737 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 90 0 0 72 13 15.2941 POLQ 0 genome.wustl.edu 37 3 121207488 121207489 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 121207488 121207489 - A INS POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_ins c.4290_4289 p.L1430fs 0.205:0.152 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 61 0 0 48 11 18.6441 EAF2 0 genome.wustl.edu 37 3 121573659 121573659 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 121573659 121573659 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.327 p.T112fs 0.970 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 89 0 0 64 12 15.7895 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 65 0 0 48 11 18.6441 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 53 0 0 24 9 27.2727 GP5 0 genome.wustl.edu 37 3 194117340 194117341 + Frame_Shift_Del DEL CT CT - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 194117340 194117341 CT - DEL GP5 ENST00000323007 human ensembl 74_37 -1 known frame_shift_del c.1672_1671 p.R557fs 0.002:0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 281 0 0 222 52 18.9781 TRAK1 0 genome.wustl.edu 37 3 42242450 42242450 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 42242450 42242450 C - DEL TRAK1 ENST00000396175 human ensembl 74_37 +1 known frame_shift_del c.1157 p.R388fs 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 211 0 0 151 26 14.6893 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 254 0 0 208 29 12.2363 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 93 0 0 59 7 10.6061 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 75 0 0 49 8 14.0351 SUCLG2 0 genome.wustl.edu 37 3 67570962 67570962 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 3 67570962 67570962 G - DEL SUCLG2 ENST00000307227 human ensembl 74_37 -1 known frame_shift_del c.514 p.Q172fs 0.906 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 172 0 0 133 24 15.2866 SLC9B2 0 genome.wustl.edu 37 4 103952952 103952952 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 103952952 103952952 T - DEL SLC9B2 ENST00000362026 human ensembl 74_37 -1 known frame_shift_del c.1160 p.K387fs 0.744 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 50 0 0 32 8 20 ANK2 0 genome.wustl.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 114280134 114280135 - G INS ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_ins c.10360_10361 p.T3457fs 0.150:0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 77 0 0 76 8 9.52381 SCLT1 0 genome.wustl.edu 37 4 129920943 129920943 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 129920943 129920943 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.433 p.T145fs 0.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 59 0 0 47 13 21.6667 PCDH10 0 genome.wustl.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 134071967 134071968 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.Q226fs 0.999:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 91 0 0 80 5 5.88235 MARCH1 0 genome.wustl.edu 37 4 164534608 164534608 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 164534608 164534608 T - DEL MARCH1 ENST00000339875 human ensembl 74_37 -1 known frame_shift_del c.49 p.S17fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 79 0 0 71 10 12.3457 MFAP3L 0 genome.wustl.edu 37 4 170926834 170926835 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 170926834 170926835 - A INS MFAP3L ENST00000361618 human ensembl 74_37 -1 known frame_shift_ins c.195_194 p.L65fs 1.000:1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 148 0 0 126 19 13.1034 KLB 0 genome.wustl.edu 37 4 39450218 39450218 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 39450218 39450218 T - DEL KLB ENST00000257408 human ensembl 74_37 +1 known frame_shift_del c.3047 p.Q1018fs 0.564 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 113 0 0 95 19 16.6667 LIMCH1 0 genome.wustl.edu 37 4 41621388 41621389 + Frame_Shift_Ins INS - - AG TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 41621388 41621389 - AG INS LIMCH1 ENST00000503057 human ensembl 74_37 +1 known frame_shift_ins c.389_390 p.E134fs 0.003:0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 118 0 0 94 15 13.7615 OTOP1 0 genome.wustl.edu 37 4 4199300 4199301 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 4199300 4199301 - G INS OTOP1 ENST00000296358 human ensembl 74_37 -1 known frame_shift_ins c.1261_1260 p.Y420fs 0.959:0.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 148 0 0 105 17 13.9344 SCFD2 0 genome.wustl.edu 37 4 54231957 54231957 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 54231957 54231957 C - DEL SCFD2 ENST00000401642 human ensembl 74_37 -1 known frame_shift_del c.152 p.G51fs 0.116 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 102 0 0 102 9 8.10811 TMPRSS11F 0 genome.wustl.edu 37 4 68919690 68919690 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 68919690 68919690 T - DEL TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known frame_shift_del c.1254 p.K418fs 0.994 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 96 0 0 77 12 13.4831 AFM 0 genome.wustl.edu 37 4 74347532 74347532 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 74347532 74347532 T - DEL AFM ENST00000226355 human ensembl 74_37 +1 known frame_shift_del c.40 p.L16fs 0.970 pirsf_Serum_albumin/AFP pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 52 0 0 38 6 13.6364 CCDC158 0 genome.wustl.edu 37 4 77274364 77274364 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 77274364 77274364 T - DEL CCDC158 ENST00000388914 human ensembl 74_37 -1 known frame_shift_del c.2357 p.N786fs 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 52 0 0 37 8 17.7778 ANTXR2 0 genome.wustl.edu 37 4 80905985 80905986 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 80905985 80905986 - G INS ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_ins c.1074_1073 p.A359fs 0.994:0.992 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 14 0 0 11 4 26.6667 PRKG2 0 genome.wustl.edu 37 4 82065395 82065396 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 82065395 82065396 - T INS PRKG2 ENST00000264399 human ensembl 74_37 -1 known frame_shift_ins c.1244_1243 p.R415fs 1.000:1.000 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 137 0 0 96 17 15.0442 GPRIN3 0 genome.wustl.edu 37 4 90170124 90170124 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 4 90170124 90170124 G - DEL GPRIN3 ENST00000333209 human ensembl 74_37 -1 known frame_shift_del c.1138 p.Q380fs 0.002 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 124 0 0 100 24 19.3548 ENSG00000249494 0 genome.wustl.edu 37 5 118347673 118347673 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 118347673 118347673 T - DEL ENSG00000249494 ENST00000504820 human ensembl 74_37 -1 known rna NULL NULL 0.175 - - - no_errors CTB-161M19.4 Clone_based_vega_gene ENSG00000249494 57 0 0 55 13 19.1176 FNIP1 0 genome.wustl.edu 37 5 131007941 131007941 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 131007941 131007941 T - DEL FNIP1 ENST00000510461 human ensembl 74_37 -1 known frame_shift_del c.2196 p.K732fs 0.994 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 211 0 0 176 19 9.74359 FSTL4 0 genome.wustl.edu 37 5 132545933 132545934 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 132545933 132545934 - T INS FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_ins c.1666_1665 p.V555fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 73 0 0 58 11 15.942 PHF15 0 genome.wustl.edu 37 5 133895541 133895541 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 133895541 133895541 C - DEL PHF15 ENST00000395003 human ensembl 74_37 +1 known frame_shift_del c.333 p.P113fs 0.997 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 92 0 0 57 11 16.1765 SH3RF2 0 genome.wustl.edu 37 5 145428715 145428716 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 145428715 145428716 - G INS SH3RF2 ENST00000359120 human ensembl 74_37 +1 known frame_shift_ins c.1229_1230 p.K412fs 1.000:0.998 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 109 0 0 69 15 17.8571 GLRA1 0 genome.wustl.edu 37 5 151266343 151266343 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 151266343 151266343 G - DEL GLRA1 ENST00000455880 human ensembl 74_37 -1 known frame_shift_del c.191 p.P64fs 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 122 0 0 88 11 11.1111 OR2Y1 0 genome.wustl.edu 37 5 180166230 180166230 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 180166230 180166230 A - DEL OR2Y1 ENST00000307832 human ensembl 74_37 -1 known frame_shift_del c.829 p.Y277fs 0.492 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 231 0 0 183 13 6.63265 MAP1B 0 genome.wustl.edu 37 5 71491223 71491223 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 71491223 71491223 A - DEL MAP1B ENST00000296755 human ensembl 74_37 +1 known frame_shift_del c.2041 p.E683fs 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 15 0 0 10 5 33.3333 CAST 0 genome.wustl.edu 37 5 96086366 96086366 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 5 96086366 96086366 C - DEL CAST ENST00000395813 human ensembl 74_37 +1 known frame_shift_del c.1504 p.P503fs 0.143 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 70 0 0 48 7 12.7273 FAM26E 0 genome.wustl.edu 37 6 116836954 116836954 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 116836954 116836954 T - DEL FAM26E ENST00000368599 human ensembl 74_37 +1 known frame_shift_del c.732 p.F246fs 1.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 133 0 0 96 15 13.5135 ROS1 0 genome.wustl.edu 37 6 117715401 117715402 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 117715401 117715402 - A INS ROS1 ENST00000368508 human ensembl 74_37 -1 known frame_shift_ins c.1088_1087 p.Y363fs 1.000:1.000 smart_LDLR_classB_rpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 59 0 0 43 13 23.2143 TBC1D32 0 genome.wustl.edu 37 6 121638708 121638709 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 121638708 121638709 - T INS TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_ins c.428_427 p.I143fs 0.001:0.273 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 116 0 0 87 9 9.375 PHACTR1 0 genome.wustl.edu 37 6 13206135 13206135 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 13206135 13206135 G - DEL PHACTR1 ENST00000379350 human ensembl 74_37 +1 known frame_shift_del c.753 p.P254fs 0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 115 0 0 90 15 14.2857 SGK1 0 genome.wustl.edu 37 6 134582973 134582973 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 134582973 134582973 A - DEL SGK1 ENST00000524929 human ensembl 74_37 -1 putative frame_shift_del c.383 p.L128fs 0.005 NULL NULL - no_errors SGK1 HGNC ENSG00000118515 14 0 0 13 6 31.5789 LPA 0 genome.wustl.edu 37 6 160963770 160963770 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 160963770 160963770 C - DEL LPA ENST00000316300 human ensembl 74_37 -1 known frame_shift_del c.5469 p.C1824fs 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 125 0 0 79 20 20.202 TRIM31 0 genome.wustl.edu 37 6 30080441 30080443 + In_Frame_Del DEL ATG ATG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30080441 30080443 ATG - DEL TRIM31 ENST00000376734 human ensembl 74_37 -1 known in_frame_del c.142_140 p.S47in_frame_del 0.000:0.000:0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 126 0 0 96 25 20.6612 DHX16 0 genome.wustl.edu 37 6 30623093 30623094 + Frame_Shift_Del DEL AG AG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 30623093 30623094 AG - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.2682_2681 p.S894fs 0.997:1.000 superfamily_P-loop_NTPase pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 131 0 0 105 22 17.3228 TNXB 0 genome.wustl.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 32063513 32063514 AC - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.2117_2116 p.V706fs 0.972:0.989 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 68 0 0 59 8 11.9403 KIFC1 0 genome.wustl.edu 37 6 33374112 33374112 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 33374112 33374112 C - DEL KIFC1 ENST00000428849 human ensembl 74_37 +1 known frame_shift_del c.1676 p.L561fs 0.647 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 414 0 0 268 39 12.7036 ANKS1A 0 genome.wustl.edu 37 6 35047321 35047322 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35047321 35047322 - C INS ANKS1A ENST00000360359 human ensembl 74_37 +1 known frame_shift_ins c.2312_2313 p.S774fs 1.000:1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 79 0 0 60 14 18.9189 SLC26A8 0 genome.wustl.edu 37 6 35912065 35912065 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 35912065 35912065 T - DEL SLC26A8 ENST00000355574 human ensembl 74_37 -1 known frame_shift_del c.2525 p.N842fs 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 99 0 0 77 16 17.2043 AARS2 0 genome.wustl.edu 37 6 44272267 44272267 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 44272267 44272267 C - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.1756 p.V586fs 0.717 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 47 0 0 30 9 23.0769 AARS2 0 genome.wustl.edu 37 6 44278774 44278774 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 44278774 44278774 G - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.706 p.Q236fs 0.995 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 133 0 0 111 29 20.7143 PHF3 0 genome.wustl.edu 37 6 64421676 64421676 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 64421676 64421676 T - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.4192 p.F1399fs 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 193 0 0 159 39 19.697 CD109 0 genome.wustl.edu 37 6 74490205 74490206 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 74490205 74490206 - T INS CD109 ENST00000287097 human ensembl 74_37 +1 known frame_shift_ins c.1886_1887 p.A631fs 1.000:0.997 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 152 0 0 101 16 13.6752 SNAP91 0 genome.wustl.edu 37 6 84269853 84269853 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 84269853 84269853 G - DEL SNAP91 ENST00000369694 human ensembl 74_37 -1 known frame_shift_del c.2601 p.F868fs 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 111 0 0 78 12 13.3333 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 6 87969484 87969484 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 19 0 0 17 7 29.1667 SRRT 0 genome.wustl.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 100479331 100479332 - G INS SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_ins c.303_304 p.G104fs 0.996:1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 55 0 0 65 9 12.1622 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 100 0 0 103 20 16.2602 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 68 0 0 55 8 12.6984 KMT2E 0 genome.wustl.edu 37 7 104746985 104746985 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 104746985 104746985 A - DEL KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_del c.2613 p.K873fs 0.999 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 81 0 0 58 11 15.942 CBLL1 0 genome.wustl.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107395909 107395909 A - DEL CBLL1 ENST00000440859 human ensembl 74_37 +1 known frame_shift_del c.413 p.K140fs 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 125 0 0 125 16 11.3475 CBLL1 0 genome.wustl.edu 37 7 107399402 107399402 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 107399402 107399402 C - DEL CBLL1 ENST00000440859 human ensembl 74_37 +1 known frame_shift_del c.1255 p.P420fs 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 236 0 0 188 27 12.5581 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 115 0 0 77 11 12.5 WASL 0 genome.wustl.edu 37 7 123332584 123332585 + Frame_Shift_Ins INS - - G TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 123332584 123332585 - G INS WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_ins c.1164_1163 p.P389fs 0.289:0.998 superfamily_WASP_C pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 114 0 0 97 18 15.6522 UBN2 0 genome.wustl.edu 37 7 138957093 138957093 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 138957093 138957093 A - DEL UBN2 ENST00000473989 human ensembl 74_37 +1 known frame_shift_del c.1622 p.K542fs 0.996 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 146 0 0 87 6 6.45161 TAS2R3 0 genome.wustl.edu 37 7 141464155 141464156 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 141464155 141464156 - T INS TAS2R3 ENST00000247879 human ensembl 74_37 +1 known frame_shift_ins c.197_198 p.L68fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 271 0 0 179 46 20.4444 EPHB6 0 genome.wustl.edu 37 7 142561448 142561448 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 142561448 142561448 G - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.160 p.W56fs 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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,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 EPHB6 HGNC ENSG00000106123 102 0 0 61 10 14.0845 NPC1L1 0 genome.wustl.edu 37 7 44579278 44579278 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 44579278 44579278 C - DEL NPC1L1 ENST00000289547 human ensembl 74_37 -1 known frame_shift_del c.718 p.V240fs 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 110 0 0 83 9 9.78261 PAPOLB 0 genome.wustl.edu 37 7 4900105 4900105 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 4900105 4900105 T - DEL PAPOLB ENST00000404991 human ensembl 74_37 -1 known frame_shift_del c.1334 p.K445fs 0.498 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 161 0 0 102 32 23.8806 CCT6A 0 genome.wustl.edu 37 7 56126090 56126091 + Frame_Shift_Ins INS - - AG TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 56126090 56126091 - AG INS CCT6A ENST00000275603 human ensembl 74_37 +1 known frame_shift_ins c.761_762 p.E258fs 1.000:0.988 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 68 0 0 49 9 15.5172 PTPN12 0 genome.wustl.edu 37 7 77265153 77265153 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 7 77265153 77265153 A - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.2129 p.K712fs 0.833 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 45 0 0 36 11 23.4043 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 43 0 0 37 8 17.7778 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL 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 CSMD3 HGNC ENSG00000164796 84 0 0 84 11 11.5789 ATAD2 0 genome.wustl.edu 37 8 124368684 124368685 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 124368684 124368685 - A INS ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_ins c.1591_1590 p.D530fs 1.000:1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 37 0 0 32 7 17.9487 FER1L6 0 genome.wustl.edu 37 8 125029888 125029888 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 125029888 125029888 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.1943 p.K650fs 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 130 0 0 87 10 10.3093 TATDN1 0 genome.wustl.edu 37 8 125500847 125500847 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 125500847 125500847 A - DEL TATDN1 ENST00000276692 human ensembl 74_37 -1 known frame_shift_del c.882 p.P295fs 1.000 pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 42 0 0 28 7 20 MICU3 0 genome.wustl.edu 37 8 16942810 16942810 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 16942810 16942810 A - DEL MICU3 ENST00000318063 human ensembl 74_37 +1 known frame_shift_del c.760 p.E256fs 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 122 0 0 126 12 8.69565 CSGALNACT1 0 genome.wustl.edu 37 8 19263296 19263296 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 19263296 19263296 T - DEL CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known frame_shift_del c.1594 p.T532fs 0.997 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 116 0 0 116 15 11.4504 CCAR2 0 genome.wustl.edu 37 8 22473323 22473324 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22473323 22473324 - C INS CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_ins c.1506_1507 p.L504fs 0.680:0.809 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 104 0 0 129 9 6.52174 CCAR2 0 genome.wustl.edu 37 8 22476357 22476357 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 22476357 22476357 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.2350 p.P785fs 0.998 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 289 0 0 253 32 11.2281 ADAM28 0 genome.wustl.edu 37 8 24167473 24167474 + Frame_Shift_Del DEL AA AA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 24167473 24167474 AA - DEL ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_del c.217_218 p.N75fs 1.000:0.997 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 89 0 0 80 8 9.09091 FZD3 0 genome.wustl.edu 37 8 28385159 28385159 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 28385159 28385159 T - DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.882 p.F296fs 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 133 0 0 137 19 12.1795 TEX15 0 genome.wustl.edu 37 8 30701411 30701412 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 30701411 30701412 - T INS TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_ins c.5123_5122 p.R1708fs 0.403:0.405 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 91 0 0 90 12 11.7647 TEX15 0 genome.wustl.edu 37 8 30705912 30705912 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 30705912 30705912 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.622 p.T208fs 0.014 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 61 0 0 64 11 14.6667 NRG1 0 genome.wustl.edu 37 8 32453511 32453511 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 32453511 32453511 A - DEL NRG1 ENST00000338921 human ensembl 74_37 +1 known frame_shift_del c.266 p.K91fs 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 106 0 0 89 6 6.31579 RAB11FIP1 0 genome.wustl.edu 37 8 37730524 37730525 + Frame_Shift_Del DEL GA GA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 37730524 37730525 GA - DEL RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known frame_shift_del c.1796_1795 p.S599fs 0.000:0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 91 0 0 91 22 19.469 ANK1 0 genome.wustl.edu 37 8 41561642 41561642 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 41561642 41561642 G - DEL ANK1 ENST00000396942 human ensembl 74_37 -1 known frame_shift_del c.2212 p.L738fs 0.876 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 124 0 0 101 17 14.4068 PRKDC 0 genome.wustl.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 48746799 48746799 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.8107 p.R2703fs 0.739 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 488 0 0 473 74 13.5283 RP1 0 genome.wustl.edu 37 8 55538813 55538813 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 55538813 55538813 A - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.2371 p.R793fs 0.177 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 69 0 0 75 8 9.63855 CYP7A1 0 genome.wustl.edu 37 8 59410908 59410908 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 59410908 59410908 A - DEL CYP7A1 ENST00000301645 human ensembl 74_37 -1 known frame_shift_del c.201 p.F67fs 1.000 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 - no_errors CYP7A1 HGNC ENSG00000167910 223 0 0 167 14 7.73481 STAU2 0 genome.wustl.edu 37 8 74529623 74529623 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 74529623 74529623 A - DEL STAU2 ENST00000524300 human ensembl 74_37 -1 known frame_shift_del c.474 p.F158fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 78 0 0 89 15 14.4231 ZFHX4 0 genome.wustl.edu 37 8 77767090 77767090 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 77767090 77767090 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.7933 p.R2647fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 77 0 0 86 15 14.8515 DCAF4L2 0 genome.wustl.edu 37 8 88886027 88886027 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 88886027 88886027 T - DEL DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known frame_shift_del c.173 p.K58fs 0.008 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 108 0 0 113 8 6.61157 NBN 0 genome.wustl.edu 37 8 90965666 90965666 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 8 90965666 90965666 T - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.1651 p.R551fs 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 181 0 0 151 13 7.92683 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 76 0 0 90 9 9.09091 CDK5RAP2 0 genome.wustl.edu 37 9 123290085 123290085 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 123290085 123290085 T - DEL CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known frame_shift_del c.998 p.K333fs 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 74 0 0 60 8 11.7647 OR1L4 0 genome.wustl.edu 37 9 125486897 125486897 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 125486897 125486897 C - DEL OR1L4 ENST00000259466 human ensembl 74_37 +1 known frame_shift_del c.629 p.F212fs 0.545 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 709 0 0 595 35 5.55556 OR1L6 0 genome.wustl.edu 37 9 125512755 125512755 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 125512755 125512755 C - DEL OR1L6 ENST00000373684 human ensembl 74_37 +1 known frame_shift_del c.737 p.F248fs 0.266 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 94 0 0 102 7 6.42202 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 138 0 0 114 22 16.1765 UBAC1 0 genome.wustl.edu 37 9 138836996 138836996 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 138836996 138836996 C - DEL UBAC1 ENST00000371756 human ensembl 74_37 -1 known frame_shift_del c.754 p.A252fs 0.667 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 92 0 0 90 13 12.6214 DPP7 0 genome.wustl.edu 37 9 140006327 140006327 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 140006327 140006327 C - DEL DPP7 ENST00000371579 human ensembl 74_37 -1 known frame_shift_del c.1205 p.G402fs 0.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 42 0 0 30 11 26.8293 HAUS6 0 genome.wustl.edu 37 9 19063047 19063047 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 19063047 19063047 T - DEL HAUS6 ENST00000380502 human ensembl 74_37 -1 known frame_shift_del c.1588 p.S530fs 0.006 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 174 0 0 120 31 20.5298 NOL6 0 genome.wustl.edu 37 9 33464082 33464082 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33464082 33464082 G - DEL NOL6 ENST00000297990 human ensembl 74_37 -1 known frame_shift_del c.2857 p.Q953fs 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 166 0 0 145 16 9.93789 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 22 0 0 12 6 33.3333 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 672 0 0 585 76 11.4977 ATP8B5P 0 genome.wustl.edu 37 9 35450411 35450411 + RNA DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35450411 35450411 T - DEL ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.812 - - - no_errors ATP8B5P HGNC ENSG00000179766 12 0 0 3 4 57.1429 TESK1 0 genome.wustl.edu 37 9 35609431 35609432 + Frame_Shift_Ins INS - - C TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 35609431 35609432 - C INS TESK1 ENST00000336395 human ensembl 74_37 +1 known frame_shift_ins c.1573_1574 p.Q527fs 0.992:0.995 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 TESK1 HGNC ENSG00000107140 93 0 0 55 9 14.0625 KDM4C 0 genome.wustl.edu 37 9 7103861 7103861 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 7103861 7103861 C - DEL KDM4C ENST00000381309 human ensembl 74_37 +1 known frame_shift_del c.2601 p.N869fs 0.947 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 73 0 0 49 8 14.0351 C9orf41 0 genome.wustl.edu 37 9 77614678 77614678 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 77614678 77614678 A - DEL C9orf41 ENST00000376834 human ensembl 74_37 -1 known frame_shift_del c.699 p.F233fs 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 73 0 0 50 10 16.6667 PRUNE2 0 genome.wustl.edu 37 9 79324748 79324749 + Frame_Shift_Ins INS - - T TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 79324748 79324749 - T INS PRUNE2 ENST00000428286 human ensembl 74_37 -1 known frame_shift_ins c.1365_1364 p.N455fs 0.952:0.985 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 38 0 0 40 11 21.5686 RMI1 0 genome.wustl.edu 37 9 86617025 86617025 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 86617025 86617025 A - DEL RMI1 ENST00000325875 human ensembl 74_37 +1 known frame_shift_del c.1124 p.N377fs 0.238 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 66 0 0 74 14 15.9091 PTCH1 0 genome.wustl.edu 37 9 98209351 98209351 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe 9 98209351 98209351 C - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.4187 p.G1396fs 0.976 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 129 0 0 128 25 16.3399 ZMAT1 0 genome.wustl.edu 37 X 101138598 101138598 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 101138598 101138598 T - DEL ZMAT1 ENST00000372782 human ensembl 74_37 -1 known frame_shift_del c.1801 p.S601fs 0.777 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 180 0 0 105 31 22.7941 ZCCHC18 0 genome.wustl.edu 37 X 103359043 103359044 + Frame_Shift_Ins INS - - A TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 103359043 103359044 - A INS ZCCHC18 ENST00000537356 human ensembl 74_37 +1 putative frame_shift_ins c.241_242 p.L83fs 0.277:0.329 NULL superfamily_Znf_CCHC - no_errors ZCCHC18 HGNC ENSG00000166707 74 0 0 44 9 16.9811 AMELX 0 genome.wustl.edu 37 X 11316742 11316742 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 11316742 11316742 C - DEL AMELX ENST00000380712 human ensembl 74_37 +1 known frame_shift_del c.261 p.P89fs 0.955 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 242 0 0 153 31 16.8478 ELF4 0 genome.wustl.edu 37 X 129201458 129201458 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 129201458 129201458 G - DEL ELF4 ENST00000308167 human ensembl 74_37 -1 known frame_shift_del c.1230 p.V411fs 0.001 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 208 0 0 138 17 10.9677 MCF2 0 genome.wustl.edu 37 X 138687910 138687911 + Frame_Shift_Del DEL CA CA - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 138687910 138687911 CA - DEL MCF2 ENST00000370578 human ensembl 74_37 -1 known frame_shift_del c.1954_1953 p.R653fs 0.999:0.002 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 325 0 0 227 36 13.6882 MBTPS2 0 genome.wustl.edu 37 X 21896681 21896681 + Frame_Shift_Del DEL A A - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 21896681 21896681 A - DEL MBTPS2 ENST00000379484 human ensembl 74_37 +1 known frame_shift_del c.1132 p.S380fs 0.994 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 236 0 0 189 20 9.56938 SYP 0 genome.wustl.edu 37 X 49050777 49050777 + Frame_Shift_Del DEL C C - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 49050777 49050777 C - DEL SYP ENST00000263233 human ensembl 74_37 -1 known frame_shift_del c.269 p.G90fs 0.007 pfam_Marvel pfam_Marvel,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 70 0 0 66 13 16.4557 FGD1 0 genome.wustl.edu 37 X 54496632 54496632 + Frame_Shift_Del DEL G G - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 54496632 54496632 G - DEL FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_del c.918 p.S307fs 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 36 0 0 19 7 26.9231 ZMYM3 0 genome.wustl.edu 37 X 70472510 70472511 + Frame_Shift_Del DEL AG AG - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 70472510 70472511 AG - DEL ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_del c.596_595 p.L199fs 0.979:0.976 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 67 0 0 42 7 14.2857 OGT 0 genome.wustl.edu 37 X 70782825 70782825 + Frame_Shift_Del DEL T T - TCGA-D7-A6EY-01A-21D-A31L-08 TCGA-D7-A6EY-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b638495-2256-4f45-b8f3-b8a8b606ebff 0fc029be-33c0-4d35-b62c-53a924d15cbe X 70782825 70782825 T - DEL OGT ENST00000373719 human ensembl 74_37 +1 known frame_shift_del c.2106 p.F704fs 0.995 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 161 0 0 113 9 7.37705