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 ABCA6 0 genome.wustl.edu 37 17 67109433 67109433 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 67109433 67109433 C T SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known silent c.1971 p.L657 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 86 0 0.00 19 54 73.97 ABHD2 0 genome.wustl.edu 37 15 89736499 89736499 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 89736499 89736499 G T SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known missense c.1030 p.D344Y 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 tier1 - - 97 0 0.00 60 4 6.25 ADAM2 0 genome.wustl.edu 37 8 39679180 39679180 + Missense_Mutation SNP T T A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 39679180 39679180 T A SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.269 p.N90I 0.873 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 108 0 0.00 79 57 41.91 ADCY1 0 genome.wustl.edu 37 7 45614684 45614684 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 45614684 45614684 G T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.542 p.S181I 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 - - 70 0 0.00 59 4 6.35 AGPS 0 genome.wustl.edu 37 2 178333231 178333231 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 178333231 178333231 C T SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.1084 p.H362Y 1.000 superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 121 0 0.00 119 69 36.70 AKAP13 0 genome.wustl.edu 37 15 86279365 86279365 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 86279365 86279365 G T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.7569 p.E2523D 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 67 0 0.00 69 4 5.48 ALDH4A1 0 genome.wustl.edu 37 1 19203950 19203950 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 19203950 19203950 C A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.1097 p.G366V 0.997 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 tier1 - - 38 0 0.00 43 4 8.51 ANKRD26P1 0 genome.wustl.edu 37 16 46534259 46534259 + RNA SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 46534259 46534259 C T SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 tier1 - - 36 0 0.00 18 16 47.06 ANKRD36 0 genome.wustl.edu 37 2 97830162 97830162 + Nonsense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 97830162 97830162 C G SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known nonsense c.1487 p.S496* 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 157 0 0.00 146 11 7.01 ANKRD36C 0 genome.wustl.edu 37 2 96604621 96604621 + Nonsense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 96604621 96604621 G C SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known nonsense c.1589 p.S530* 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 tier1 - - 290 0 0.00 271 25 8.45 ANKZF1 0 genome.wustl.edu 37 2 220096650 220096650 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 220096650 220096650 G A SNP ANKZF1 ENST00000323348 human ensembl 74_37 +1 known missense c.149 p.G50D 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 tier1 - - 61 0 0.00 72 4 5.19 AQP12A 0 genome.wustl.edu 37 2 241631651 241631651 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 241631651 241631651 C T SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.320 p.S107F 0.283 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 tier1 - - 102 0 0.00 86 25 22.52 ARFGEF2 0 genome.wustl.edu 37 20 47649631 47649631 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 20 47649631 47649631 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.5253 p.L1751 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 92 0 0.00 100 21 17.36 ARHGAP10 0 genome.wustl.edu 37 4 148786095 148786095 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 148786095 148786095 G A SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known silent c.585 p.E195 1.000 NULL 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 - - 98 0 0.00 57 32 35.96 ARR3 0 genome.wustl.edu 37 X 69497288 69497288 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e X 69497288 69497288 C T SNP ARR3 ENST00000307959 human ensembl 74_37 +1 known missense c.518 p.P173L 0.001 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARR3 HGNC ENSG00000120500 tier1 - - 49 0 0.00 31 11 26.19 ATRNL1 0 genome.wustl.edu 37 10 117309029 117309029 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 117309029 117309029 G A SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3778 p.A1260T 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 74 0 0.00 43 10 18.87 ATXN3 0 genome.wustl.edu 37 14 92537355 92537357 + In_Frame_Del DEL CTG CTG - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 92537355 92537357 CTG - DEL ATXN3 ENST00000545170 human ensembl 74_37 -1 known in_frame_del c.942_940 p.Q314in_frame_del 0.435:0.701:0.831 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 tier1 76 0 0.00 51 5 8.93 B3GAT2 0 genome.wustl.edu 37 6 71571660 71571660 + Missense_Mutation SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 71571660 71571660 A T SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.758 p.V253D 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 tier1 - - 24 0 0.00 7 6 46.15 BDNF 0 genome.wustl.edu 37 11 27679009 27679011 + RNA DEL TGT TGT - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 27679009 27679011 TGT - DEL BDNF ENST00000584049 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.000:0.000 - - - no_errors BDNF HGNC ENSG00000176697 tier1 35 0 0.00 23 3 11.54 BNC2 0 genome.wustl.edu 37 9 16436780 16436780 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 9 16436780 16436780 C A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1412 p.C471F 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 109 0 0.00 81 10 10.99 BNIP3 0 genome.wustl.edu 37 10 133784260 133784260 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 133784260 133784260 C T SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known missense c.421 p.A141T 0.064 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 tier1 - - 108 0 0.00 69 28 28.87 BTBD16 0 genome.wustl.edu 37 10 124096128 124096128 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 124096128 124096128 G T SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known missense c.1386 p.K462N 0.510 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 55 0 0.00 68 4 5.56 C17orf74 0 genome.wustl.edu 37 17 7330415 7330415 + Nonsense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 7330415 7330415 G T SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known nonsense c.1105 p.E369* 0.081 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 tier1 - - 82 0 0.00 70 5 6.58 C18orf54 0 genome.wustl.edu 37 18 51888438 51888438 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 51888438 51888438 T C SNP C18orf54 ENST00000382911 human ensembl 74_37 +1 novel missense c.709 p.Y237H 1.000 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 44 0 0.00 46 3 6.12 C19orf12 0 genome.wustl.edu 37 19 30193514 30193514 + RNA SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 30193514 30193514 G C SNP C19orf12 ENST00000392275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf12 HGNC ENSG00000131943 tier1 - - 43 0 0.00 14 11 44.00 C1orf105 0 genome.wustl.edu 37 1 172414300 172414300 + Splice_Site SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 172414300 172414300 T C SNP C1orf105 ENST00000367727 human ensembl 74_37 +1 known splice_site c.107+2 e2+2 1.000 - - - no_errors C1orf105 HGNC ENSG00000180999 tier1 - - 59 0 0.00 43 14 24.56 C2orf73 0 genome.wustl.edu 37 2 54562094 54562094 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 54562094 54562094 A G SNP C2orf73 ENST00000398634 human ensembl 74_37 +1 known missense c.167 p.N56S 0.878 NULL NULL - no_errors C2orf73 HGNC ENSG00000177994 tier1 - - 79 0 0.00 68 17 20.00 C6orf118 0 genome.wustl.edu 37 6 165715620 165715620 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 165715620 165715620 A G SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.191 p.L64P 1.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 22 0 0.00 10 3 23.08 C9orf53 0 genome.wustl.edu 37 9 21967209 21967209 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 9 21967209 21967209 G A SNP C9orf53 ENST00000441769 human ensembl 74_37 +1 known missense c.11 p.R4H 0.000 NULL NULL - no_errors C9orf53 HGNC ENSG00000224854 tier1 - - 38 0 0.00 11 4 26.67 CACNA2D4 0 genome.wustl.edu 37 12 1963175 1963175 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 1963175 1963175 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.2188 p.A730T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 60 0 0.00 38 32 45.71 CADM1 0 genome.wustl.edu 37 11 115080346 115080346 + Silent SNP T T G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 115080346 115080346 T G SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known silent c.1026 p.T342 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 rs148111993 - 112 0 0.00 81 12 12.90 CADM2 0 genome.wustl.edu 37 3 85961663 85961663 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 85961663 85961663 C G SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.649 p.Q217E 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 tier1 - - 74 0 0.00 125 10 7.41 CALCR 0 genome.wustl.edu 37 7 93108802 93108802 + Silent SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 93108802 93108802 A T SNP CALCR ENST00000359558 human ensembl 74_37 -1 known silent c.123 p.L41 0.012 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 tier1 - - 35 0 0.00 12 9 42.86 CAPN7 0 genome.wustl.edu 37 3 15248038 15248038 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 15248038 15248038 G T SNP CAPN7 ENST00000253693 human ensembl 74_37 +1 known missense c.36 p.Q12H 1.000 pfam_MIT,smart_MIT pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN7 HGNC ENSG00000131375 tier1 - - 71 0 0.00 38 16 29.63 CAPZA2 0 genome.wustl.edu 37 7 116520179 116520180 + Frame_Shift_Ins INS - - T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 116520179 116520180 - T INS CAPZA2 ENST00000449080 human ensembl 74_37 +1 known frame_shift_ins c.98_99 p.L36fs 0.000:0.021 NULL NULL - no_errors CAPZA2 HGNC ENSG00000198898 tier1 38 0 0.00 26 4 13.33 CCDC15 0 genome.wustl.edu 37 11 124875054 124875054 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 124875054 124875054 G C SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.2357 p.R786T 1.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 tier1 - - 122 0 0.00 93 24 20.51 CCDC17 0 genome.wustl.edu 37 1 46088492 46088492 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 46088492 46088492 G A SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known missense c.575 p.S192F 0.003 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 tier1 - - 148 0 0.00 92 84 47.73 CCDC81 0 genome.wustl.edu 37 11 86120398 86120398 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 86120398 86120398 G A SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known silent c.1209 p.P403 0.128 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 tier1 - - 253 0 0.00 154 41 20.92 CCM2 0 genome.wustl.edu 37 7 45113868 45113868 + Splice_Site SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 45113868 45113868 G T SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known splice_site c.979-1 e9-1 1.000 - - - no_errors CCM2 HGNC ENSG00000136280 tier1 - - 52 0 0.00 52 4 7.14 CCSER1 0 genome.wustl.edu 37 4 92520186 92520186 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 92520186 92520186 C G SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.2681 p.T894S 1.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 79 0 0.00 25 10 28.57 CDC16 0 genome.wustl.edu 37 13 115012590 115012591 + RNA INS - - T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 13 115012590 115012591 - T INS CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors CDC16 HGNC ENSG00000130177 tier1 22 0 0.00 22 4 15.38 CFH 0 genome.wustl.edu 37 1 196694303 196694303 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 196694303 196694303 G C SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1749 p.K583N 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 CFH HGNC ENSG00000000971 tier1 - - 50 0 0.00 59 7 10.61 CHD7 0 genome.wustl.edu 37 8 61754274 61754274 + Silent SNP T T G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 61754274 61754274 T G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.4605 p.A1535 0.227 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 - - 139 0 0.00 123 21 14.58 CHD7 0 genome.wustl.edu 37 8 61754275 61754275 + Missense_Mutation SNP A A C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 61754275 61754275 A C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.4606 p.K1536Q 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 - - 141 0 0.00 124 21 14.48 CHD7 0 genome.wustl.edu 37 8 61754276 61754276 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 61754276 61754276 A G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.4607 p.K1536R 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 - - 142 0 0.00 124 21 14.48 CHRNA1 0 genome.wustl.edu 37 2 175614679 175614679 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 175614679 175614679 G A SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.1072 p.R358W 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 tier1 - - 35 0 0.00 20 5 20.00 CIRH1A 0 genome.wustl.edu 37 16 69199442 69199442 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 69199442 69199442 C T SNP CIRH1A ENST00000563094 human ensembl 74_37 +1 novel silent c.1846 p.L616 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 tier1 - - 54 0 0.00 72 4 5.26 CIZ1 0 genome.wustl.edu 37 9 130928602 130928602 + Silent SNP T T G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 9 130928602 130928602 T G SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known silent c.2649 p.T883 0.956 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 153 0 0.00 64 32 33.33 CMTM2 0 genome.wustl.edu 37 16 66613777 66613777 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 66613777 66613777 G C SNP CMTM2 ENST00000268595 human ensembl 74_37 +1 known missense c.267 p.E89D 0.057 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 tier1 - - 62 0 0.00 44 26 37.14 CNEP1R1 0 genome.wustl.edu 37 16 50063691 50063691 + Silent SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 50063691 50063691 A T SNP CNEP1R1 ENST00000458059 human ensembl 74_37 +1 known silent c.204 p.I68 1.000 pfam_Transmembrane_protein_188 pfam_Transmembrane_protein_188 - no_errors CNEP1R1 HGNC ENSG00000205423 tier1 - - 101 0 0.00 103 21 16.94 COL5A1 0 genome.wustl.edu 37 9 137642670 137642670 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 9 137642670 137642670 A G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1604 p.K535R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 105 0 0.00 53 3 5.36 COL6A1 0 genome.wustl.edu 37 21 47423920 47423920 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 21 47423920 47423920 T C SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.3080 p.L1027P 0.325 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 89 0 0.00 83 5 5.68 COL6A5 0 genome.wustl.edu 37 3 130098602 130098602 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 130098602 130098602 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.1009 p.G337R 0.988 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 46 0 0.00 64 8 11.11 COX5A 0 genome.wustl.edu 37 15 75219207 75219207 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 75219207 75219207 T C SNP COX5A ENST00000322347 human ensembl 74_37 -1 known missense c.239 p.Y80C 1.000 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 - no_errors COX5A HGNC ENSG00000178741 tier1 - - 81 0 0.00 38 13 25.49 CPD 0 genome.wustl.edu 37 17 28706683 28706683 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 28706683 28706683 C A SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.685 p.P229T 0.847 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 tier1 - - 17 0 0.00 16 8 32.00 CRIP1 0 genome.wustl.edu 37 14 105954503 105954503 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 105954503 105954503 C T SNP CRIP1 ENST00000330233 human ensembl 74_37 +1 known missense c.41 p.A14V 0.999 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP1 HGNC ENSG00000213145 tier1 - - 56 0 0.00 48 4 7.69 CRISPLD1 0 genome.wustl.edu 37 8 75932277 75932277 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 75932277 75932277 C G SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.1207 p.L403V 0.998 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 74 0 0.00 49 36 42.35 CRYBG3 0 genome.wustl.edu 37 3 97600041 97600041 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 97600041 97600041 G T SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.1286 p.G429V 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 CRYBG3 HGNC ENSG00000080200 76 0 0.00 64 4 5.88 DACH1 0 genome.wustl.edu 37 13 72440792 72440792 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 13 72440792 72440792 G T SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.116 p.S39Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 79 0 0.00 48 3 5.88 DCDC2 0 genome.wustl.edu 37 6 24205236 24205236 + Silent SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 24205236 24205236 G T SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known silent c.1017 p.V339 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 tier1 - - 79 0 0.00 71 4 5.33 DENND6B 0 genome.wustl.edu 37 22 50752258 50752258 + Silent SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 22 50752258 50752258 G C SNP DENND6B ENST00000413817 human ensembl 74_37 -1 known silent c.1188 p.L396 0.999 pfam_Afi1_N pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom - no_errors DENND6B HGNC ENSG00000205593 tier1 - - 81 0 0.00 48 12 20.00 DFNB59 0 genome.wustl.edu 37 2 179320838 179320838 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 179320838 179320838 C T SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known missense c.509 p.S170L 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 tier1 - - 104 0 0.00 59 43 42.16 DHRS4L1 0 genome.wustl.edu 37 14 24505694 24505694 + RNA SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 24505694 24505694 C T SNP DHRS4L1 ENST00000558293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 tier1 - - 127 0 0.00 104 29 21.80 DHX29 0 genome.wustl.edu 37 5 54589922 54589922 + Nonsense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 54589922 54589922 G A SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known nonsense c.703 p.R235* 0.736 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 DHX29 HGNC ENSG00000067248 26 0 0.00 20 2 9.09 DLD 0 genome.wustl.edu 37 7 107558429 107558429 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 107558429 107558429 G T SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.1297 p.A433S 1.000 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_Hg_reductase,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 - - 52 0 0.00 62 4 6.06 DNAH1 0 genome.wustl.edu 37 3 52427419 52427419 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 52427419 52427419 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.10544 p.R3515H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 92 0 0.00 60 4 6.15 DNAH5 0 genome.wustl.edu 37 5 13865870 13865870 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 13865870 13865870 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.4262 p.S1421N 0.633 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 57 0 0.00 60 4 6.25 DSCR9 0 genome.wustl.edu 37 21 38593512 38593512 + RNA SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 21 38593512 38593512 G T SNP DSCR9 ENST00000454482 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DSCR9 HGNC ENSG00000230366 tier1 - - 87 0 0.00 63 5 7.35 DUSP27 0 genome.wustl.edu 37 1 167096645 167096645 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 167096645 167096645 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known silent c.2277 p.A759 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 37 0 0.00 46 4 8.00 ENSG00000180574 0 genome.wustl.edu 37 12 10659503 10659503 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 10659503 10659503 C T SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.1002 p.G334 0.991 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 136 0 0.00 97 47 32.64 ENSG00000221744 0 genome.wustl.edu 37 9 20295050 20295053 + RNA DEL ATAC ATAC - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 ATAC ATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 9 20295050 20295053 ATAC - DEL ENSG00000221744 ENST00000408817 human ensembl 74_37 +1 novel rna NULL NULL 0.001:0.000:0.000:0.000 - - - no_errors AL512635.1 Clone_based_ensembl_gene ENSG00000221744 tier1 14 0 0.00 4 2 33.33 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 tier1 42 0 0.00 25 2 7.41 ENSG00000270726 0 genome.wustl.edu 37 X 155251430 155251430 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e X 155251430 155251430 G A SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 - - 131 0 0.00 116 49 29.70 ENSG00000271913 0 genome.wustl.edu 37 6 159463326 159463326 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 159463326 159463326 G A SNP ENSG00000271913 ENST00000606466 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-111C20.4 Clone_based_vega_gene ENSG00000271913 tier1 - - 28 0 0.00 8 21 72.41 EPAS1 0 genome.wustl.edu 37 2 46607509 46607510 + Frame_Shift_Ins INS - - A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 46607509 46607510 - A INS EPAS1 ENST00000263734 human ensembl 74_37 +1 known frame_shift_ins c.1698_1699 p.M566fs 1.000:1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 57 0 0.00 36 23 38.98 EPRS 0 genome.wustl.edu 37 1 220160602 220160602 + Nonsense_Mutation SNP T T A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 220160602 220160602 T A SNP EPRS ENST00000366923 human ensembl 74_37 -1 known nonsense c.2920 p.K974* 1.000 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 tier1 - - 30 0 0.00 39 37 48.68 ERG 0 genome.wustl.edu 37 21 39795352 39795352 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 21 39795352 39795352 C T SNP ERG ENST00000398919 human ensembl 74_37 -1 known missense c.389 p.R130H 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 72 0 0.00 75 4 5.06 ERI2 0 genome.wustl.edu 37 16 20809366 20809366 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 20809366 20809366 G C SNP ERI2 ENST00000357967 human ensembl 74_37 -1 known missense c.1756 p.P586A 0.491 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ENSG00000196678 tier1 - - 77 0 0.00 40 23 36.51 ERVV-2 0 genome.wustl.edu 37 19 53553253 53553253 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 53553253 53553253 C A SNP ERVV-2 ENST00000601417 human ensembl 74_37 +1 known missense c.749 p.T250N 0.048 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-2 HGNC ENSG00000268964 tier1 - - 88 0 0.00 56 21 27.27 ERVV-2 0 genome.wustl.edu 37 19 53553254 53553254 + Silent SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 53553254 53553254 C A SNP ERVV-2 ENST00000601417 human ensembl 74_37 +1 known silent c.750 p.T250 0.052 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-2 HGNC ENSG00000268964 tier1 - - 89 0 0.00 57 21 26.92 ETNPPL 0 genome.wustl.edu 37 4 109674128 109674128 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 109674128 109674128 C G SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.541 p.D181H 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 tier1 - - 73 0 0.00 42 20 32.26 EXOC7 0 genome.wustl.edu 37 17 74097765 74097765 + Missense_Mutation SNP T T G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 74097765 74097765 T G SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.306 p.R102S 1.000 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 tier1 - - 53 0 0.00 48 16 25.00 FABP3 0 genome.wustl.edu 37 1 31838684 31838684 + RNA SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 31838684 31838684 C T SNP FABP3 ENST00000497275 human ensembl 74_37 -1 known rna NULL NULL 0.498 - - - no_errors FABP3 HGNC ENSG00000121769 tier1 - - 50 0 0.00 41 10 19.61 FAM104A 0 genome.wustl.edu 37 17 71205859 71205861 + In_Frame_Del DEL TGC TGC - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 71205859 71205861 TGC - DEL FAM104A ENST00000405159 human ensembl 74_37 -1 known in_frame_del c.433_431 p.S144in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 tier1 40 0 0.00 31 2 6.06 FAM124B 0 genome.wustl.edu 37 2 225244631 225244631 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 225244631 225244631 C T SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.1027 p.A343T 0.000 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 tier1 - - 64 0 0.00 71 6 7.79 FAM73B 0 genome.wustl.edu 37 9 131812166 131812166 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 9 131812166 131812166 G A SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.599 p.R200Q 0.981 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 22 0 0.00 15 2 11.76 FAT1 0 genome.wustl.edu 37 4 187541055 187541055 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 187541055 187541055 T C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6685 p.I2229V 0.782 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_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 - - 60 0 0.00 31 25 44.64 FAXC 0 genome.wustl.edu 37 6 99728727 99728727 + RNA SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 99728727 99728727 C A SNP FAXC ENST00000461803 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAXC HGNC ENSG00000146267 tier1 - - 17 0 0.00 9 3 25.00 FAXC 0 genome.wustl.edu 37 6 99728980 99728980 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 99728980 99728980 G A SNP FAXC ENST00000461803 human ensembl 74_37 -1 known rna NULL NULL 0.921 - - - no_errors FAXC HGNC ENSG00000146267 tier1 - - 78 0 0.00 68 4 5.56 FBXO15 0 genome.wustl.edu 37 18 71797743 71797743 + Frame_Shift_Del DEL T T - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 71797743 71797743 T - DEL FBXO15 ENST00000419743 human ensembl 74_37 -1 known frame_shift_del c.483 p.K161fs 0.022 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 tier1 70 0 0.00 54 8 12.90 FBXO16 0 genome.wustl.edu 37 8 28218519 28218519 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 28218519 28218519 G A SNP FBXO16 ENST00000521548 human ensembl 74_37 -1 known missense c.1024 p.R342C 0.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO16 HGNC ENSG00000214050 tier1 - - 113 0 0.00 65 29 30.85 FGB 0 genome.wustl.edu 37 4 155488798 155488798 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 155488798 155488798 T C SNP FGB ENST00000302068 human ensembl 74_37 +1 known missense c.544 p.Y182H 0.986 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 tier1 - - 55 0 0.00 29 15 34.09 FHOD1 0 genome.wustl.edu 37 16 67268058 67268058 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 67268058 67268058 C T SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known silent c.1548 p.K516 0.034 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 - - 124 0 0.00 95 19 16.67 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74835185 74835185 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 74835185 74835185 G T SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1925 p.C642F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 54 0 0.00 55 3 5.17 FXR1 0 genome.wustl.edu 37 3 180688017 180688017 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 180688017 180688017 G A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1474 p.D492N 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 tier1 - - 54 0 0.00 77 8 9.41 GABRG3 0 genome.wustl.edu 37 15 27778007 27778007 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 27778007 27778007 G A SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.1384 p.V462I 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 tier1 - - 118 0 0.00 134 20 12.90 GALR3 0 genome.wustl.edu 37 22 38219537 38219537 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 22 38219537 38219537 C T SNP GALR3 ENST00000249041 human ensembl 74_37 +1 known missense c.124 p.L42F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt - no_errors GALR3 HGNC ENSG00000128310 52 0 0.00 54 4 6.90 GATAD2A 0 genome.wustl.edu 37 19 19605162 19605162 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 19605162 19605162 G T SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.594 p.Q198H 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 42 0 0.00 67 4 5.63 GCM2 0 genome.wustl.edu 37 6 10877517 10877517 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 10877517 10877517 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.199 p.R67C 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 36 0 0.00 30 6 16.67 GLB1L 0 genome.wustl.edu 37 2 220103229 220103229 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 220103229 220103229 C G SNP GLB1L ENST00000295759 human ensembl 74_37 -1 known missense c.1215 p.E405D 1.000 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 - - 80 0 0.00 69 45 39.13 GLMN 0 genome.wustl.edu 37 1 92713443 92713443 + Missense_Mutation SNP T T A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 92713443 92713443 T A SNP GLMN ENST00000370360 human ensembl 74_37 -1 known missense c.1577 p.N526I 0.996 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 tier1 - - 125 0 0.00 76 4 5.00 GOLPH3 0 genome.wustl.edu 37 5 32126582 32126582 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 32126582 32126582 C T SNP GOLPH3 ENST00000265070 human ensembl 74_37 -1 known silent c.633 p.Q211 1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 tier1 - - 104 0 0.00 98 25 20.33 GPI 0 genome.wustl.edu 37 19 34855878 34855878 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 34855878 34855878 C T SNP GPI ENST00000415930 human ensembl 74_37 +1 known missense c.64 p.P22S 0.000 NULL pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 tier1 - - 36 0 0.00 34 8 19.05 GPR152 0 genome.wustl.edu 37 11 67219230 67219230 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 67219230 67219230 C T SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known silent c.966 p.P322 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 tier1 - - 82 0 0.00 47 15 24.19 GSG1L 0 genome.wustl.edu 37 16 27840120 27840120 + Missense_Mutation SNP A A C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 27840120 27840120 A C SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.820 p.F274V 1.000 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 tier1 - - 49 0 0.00 29 38 56.72 GSTP1 0 genome.wustl.edu 37 11 67353972 67353972 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 67353972 67353972 C T SNP GSTP1 ENST00000398606 human ensembl 74_37 +1 known missense c.557 p.A186V 0.923 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC ENSG00000084207 72 0 0.00 68 4 5.56 HAS3 0 genome.wustl.edu 37 16 69147349 69147349 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 69147349 69147349 C T SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known silent c.642 p.C214 0.987 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 40 0 0.00 36 3 7.69 HLA-F 0 genome.wustl.edu 37 6 29691240 29691240 + RNA SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 29691240 29691240 C T SNP HLA-F ENST00000462777 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors HLA-F HGNC ENSG00000204642 tier1 - - 107 0 0.00 77 37 32.46 HNRNPDL 0 genome.wustl.edu 37 4 83347630 83347630 + Missense_Mutation SNP T T A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 83347630 83347630 T A SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known missense c.1178 p.Y393F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 tier1 - - 64 0 0.00 44 17 27.87 HOXD10 0 genome.wustl.edu 37 2 176982185 176982185 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 176982185 176982185 G A SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known silent c.624 p.Q208 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 tier1 - - 117 0 0.00 71 44 38.26 HS6ST3 0 genome.wustl.edu 37 13 96743467 96743467 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 13 96743467 96743467 C T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known silent c.351 p.N117 0.962 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 71 0 0.00 69 4 5.48 HSD17B12 0 genome.wustl.edu 37 11 43859885 43859885 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 43859885 43859885 G A SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known silent c.555 p.L185 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 tier1 - - 78 0 0.00 47 16 25.40 HTR1F 0 genome.wustl.edu 37 3 88039960 88039960 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 88039960 88039960 C G SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.61 p.P21A 1.000 prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 tier1 - - 85 0 0.00 127 21 14.19 HYDIN 0 genome.wustl.edu 37 16 70942309 70942309 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 70942309 70942309 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.8242 p.A2748T 0.985 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 69 0 0.00 41 20 32.79 IFT80 0 genome.wustl.edu 37 3 160117253 160117253 + RNA SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 160117253 160117253 C T SNP IFT80 ENST00000498145 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors IFT80 HGNC ENSG00000068885 tier1 - - 62 0 0.00 101 9 8.18 IGFBP3 0 genome.wustl.edu 37 7 45956987 45956987 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 45956987 45956987 G A SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known missense c.473 p.P158L 0.003 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 tier1 - - 48 0 0.00 34 9 20.93 INCENP 0 genome.wustl.edu 37 11 61897831 61897831 + Silent SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 61897831 61897831 C A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.832 p.R278 0.064 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 - - 89 0 0.00 59 24 28.92 ITGAM 0 genome.wustl.edu 37 16 31341216 31341216 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 31341216 31341216 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.2969 p.T990I 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 16 0 0.00 10 7 41.18 ITGB1 0 genome.wustl.edu 37 10 33214829 33214829 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 33214829 33214829 G A SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known silent c.756 p.F252 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 tier1 rs12261912 - 80 0 0.00 101 26 20.47 KDM1B 0 genome.wustl.edu 37 6 18215271 18215271 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 18215271 18215271 G T SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.2146 p.G716W 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 tier1 - - 37 0 0.00 60 4 6.25 KIAA0319 0 genome.wustl.edu 37 6 24564464 24564464 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 24564464 24564464 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.2397 p.S799 0.099 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 70 0 0.00 56 39 41.05 KIAA1614 0 genome.wustl.edu 37 1 180904863 180904863 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 180904863 180904863 G A SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.1818 p.A606 0.188 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 48 0 0.00 49 8 14.04 KIF3C 0 genome.wustl.edu 37 2 26203716 26203716 + Silent SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 26203716 26203716 G C SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.1071 p.R357 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_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 - - 94 0 0.00 117 8 6.40 KLF6 0 genome.wustl.edu 37 10 3824010 3824010 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 3824010 3824010 C G SNP KLF6 ENST00000497571 human ensembl 74_37 -1 known missense c.499 p.G167R 0.593 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 47 0 0.00 34 2 5.56 KLK9 0 genome.wustl.edu 37 19 51506391 51506391 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 51506391 51506391 C G SNP KLK9 ENST00000250366 human ensembl 74_37 -1 known missense c.729 p.W243C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK9 Uniprot_gn ENSG00000269741 tier1 - - 100 0 0.00 63 18 21.95 KLRF1 0 genome.wustl.edu 37 12 9994939 9994939 + Missense_Mutation SNP T T G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 9994939 9994939 T G SNP KLRF1 ENST00000279544 human ensembl 74_37 +1 known missense c.497 p.L166R 0.139 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRF1 HGNC ENSG00000150045 tier1 - - 78 0 0.00 61 20 24.69 KRR1 0 genome.wustl.edu 37 12 75897754 75897754 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 75897754 75897754 C A SNP KRR1 ENST00000229214 human ensembl 74_37 -1 known missense c.761 p.R254L 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 tier1 - - 120 0 0.00 73 38 34.23 KRTAP10-6 0 genome.wustl.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 21 46011400 46011400 G A SNP KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known silent c.966 p.S322 1.000 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 39 0 0.00 64 4 5.80 KRTAP5-11 0 genome.wustl.edu 37 11 71293138 71293138 + RNA SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 71293138 71293138 G T SNP KRTAP5-11 ENST00000526239 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KRTAP5-11 HGNC ENSG00000204571 tier1 - - 64 0 0.00 96 25 20.66 KSR1 0 genome.wustl.edu 37 17 25783889 25783889 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 25783889 25783889 C T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.220 p.R74W 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 59 0 0.00 57 4 6.56 LARP4B 0 genome.wustl.edu 37 10 871242 871242 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 871242 871242 G A SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.1247 p.S416F 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 tier1 - - 84 0 0.00 46 15 24.59 LCT 0 genome.wustl.edu 37 2 136562471 136562471 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 136562471 136562471 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.4330 p.V1444M 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 115 0 0.00 96 23 19.33 LDHD 0 genome.wustl.edu 37 16 75147474 75147474 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 75147474 75147474 T C SNP LDHD ENST00000300051 human ensembl 74_37 -1 known missense c.1114 p.N372D 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 tier1 - - 46 0 0.00 28 26 48.15 LINC00982 0 genome.wustl.edu 37 1 2984044 2984044 + RNA SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 2984044 2984044 C T SNP LINC00982 ENST00000321336 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00982 HGNC ENSG00000177133 56 0 0.00 74 4 5.13 LINGO1 0 genome.wustl.edu 37 15 77907091 77907091 + Silent SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 77907091 77907091 C G SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.1158 p.R386 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 103 0 0.00 43 18 29.51 LOC100129550 0 genome.wustl.edu 37 3 122606017 122606017 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 122606017 122606017 G A SNP LOC100129550 ENST00000610128 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-67L2.2 Clone_based_vega_gene ENSG00000273033 tier1 - - 51 0 0.00 37 12 24.49 LOC101929847 0 genome.wustl.edu 37 15 84868718 84868718 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 84868718 84868718 G A SNP LOC101929847 ENST00000316967 human ensembl 74_37 -1 known rna NULL NULL 0.300 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 29 0 0.00 11 2 15.38 LOC728537 0 genome.wustl.edu 37 2 98306750 98306750 + RNA SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 98306750 98306750 A T SNP LOC728537 ENST00000445382 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors AC017099.3 Clone_based_vega_gene ENSG00000228486 tier1 - - 89 0 0.00 76 4 5.00 LPHN2 0 genome.wustl.edu 37 1 82409141 82409141 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 82409141 82409141 C G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.886 p.L296V 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 34 0 0.00 39 12 23.53 LRFN2 0 genome.wustl.edu 37 6 40399644 40399644 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 40399644 40399644 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known silent c.1209 p.S403 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 tier1 - - 90 0 0.00 70 17 19.54 LRIG1 0 genome.wustl.edu 37 3 66432729 66432729 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 66432729 66432729 C T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.2585 p.G862D 0.984 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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 LRIG1 HGNC ENSG00000144749 58 0 0.00 72 4 5.26 LRRC4 0 genome.wustl.edu 37 7 127669037 127669037 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 127669037 127669037 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1657 p.R553W 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,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 LRRC4 HGNC ENSG00000128594 tier1 - - 70 0 0.00 41 13 24.07 LRRC41 0 genome.wustl.edu 37 1 46763994 46763994 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 46763994 46763994 T C SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.248 p.Y83C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 tier1 - - 138 0 0.00 81 57 41.30 LRRK2 0 genome.wustl.edu 37 12 40753118 40753118 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 40753118 40753118 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.6900 p.L2300F 0.757 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 98 0 0.00 101 15 12.82 LZTR1 0 genome.wustl.edu 37 22 21341811 21341811 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 22 21341811 21341811 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known silent c.339 p.T113 0.968 smart_Kelch_1 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 - - 58 0 0.00 41 4 8.89 MAN2A2 0 genome.wustl.edu 37 15 91459419 91459419 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 91459419 91459419 T C SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.2927 p.L976P 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom 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 MAN2A2 HGNC ENSG00000196547 tier1 - - 163 0 0.00 44 67 60.36 MAP3K4 0 genome.wustl.edu 37 6 161494611 161494611 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 161494611 161494611 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.2064 p.D688 0.912 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 - - 62 0 0.00 43 5 10.42 MARK3 0 genome.wustl.edu 37 14 103932740 103932740 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 103932740 103932740 G T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.958 p.V320F 0.795 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 42 0 0.00 21 3 12.50 MCC 0 genome.wustl.edu 37 5 112420953 112420953 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 112420953 112420953 G T SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.883 p.P295T 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 56 0 0.00 37 4 9.76 MEGF10 0 genome.wustl.edu 37 5 126746293 126746293 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 126746293 126746293 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.1130 p.S377N 1.000 pfam_EGF_laminin,smart_EG-like_dom,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 - - 46 0 0.00 26 7 21.21 MEP1B 0 genome.wustl.edu 37 18 29784155 29784155 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 29784155 29784155 T C SNP MEP1B ENST00000269202 human ensembl 74_37 +1 known missense c.379 p.S127P 0.924 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 tier1 - - 126 0 0.00 99 23 18.70 MGAT3 0 genome.wustl.edu 37 22 39883406 39883406 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 22 39883406 39883406 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known silent c.54 p.C18 1.000 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 tier1 - - 46 0 0.00 40 4 9.09 MGLL 0 genome.wustl.edu 37 3 127411061 127411061 + Nonsense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 127411061 127411061 C A SNP MGLL ENST00000265052 human ensembl 74_37 -1 known nonsense c.922 p.G308* 0.023 NULL pfam_Lysophospholipase_put,pfam_AB_hydrolase_1,pfam_Lipase_3,pfam_Esterase_put,pfam_AB_hydrolase_3,prints_AB_hydrolase_1 - no_errors MGLL HGNC ENSG00000074416 tier1 - - 84 0 0.00 52 4 7.14 MIR3664 0 genome.wustl.edu 37 11 70718454 70718454 + RNA SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 70718454 70718454 C A SNP MIR3664 ENST00000579074 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3664 HGNC ENSG00000263744 tier1 - - 24 0 0.00 11 28 71.79 MMS22L 0 genome.wustl.edu 37 6 97676779 97676779 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 97676779 97676779 G A SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2030 p.A677V 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 90 0 0.00 55 4 6.78 MROH9 0 genome.wustl.edu 37 1 170985417 170985417 + Missense_Mutation SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 170985417 170985417 C G SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1848 p.D616E 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 104 0 0.00 90 39 30.00 MRPS22 0 genome.wustl.edu 37 3 139074623 139074623 + Missense_Mutation SNP T T A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 139074623 139074623 T A SNP MRPS22 ENST00000310776 human ensembl 74_37 +1 known missense c.978 p.N326K 0.270 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 tier1 - - 96 0 0.00 143 34 19.21 MSH2 0 genome.wustl.edu 37 2 47702214 47702214 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 47702214 47702214 G A SNP MSH2 ENST00000233146 human ensembl 74_37 +1 known missense c.1810 p.A604T 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 tier1 - - 92 0 0.00 74 38 33.93 MT-RNR2 0 genome.wustl.edu 37 MT 1949 1949 + RNA SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e MT 1949 1949 G C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 11 0 0.00 7 7 50.00 MT-RNR2 0 genome.wustl.edu 37 MT 2289 2289 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e MT 2289 2289 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 139 0 0.00 152 8 5.00 MTSS1 0 genome.wustl.edu 37 8 125575201 125575201 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 125575201 125575201 C T SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.857 p.R286Q 0.998 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 30 0 0.00 29 3 9.38 MYO1H 0 genome.wustl.edu 37 12 109831212 109831212 + Frame_Shift_Del DEL T T - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 109831212 109831212 T 0 DEL MYO1H ENST00000431443 human ensembl 74_37 +1 known frame_shift_del c.203 p.Y69fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 83 0 0.00 93 8 7.92 MYO5B 0 genome.wustl.edu 37 18 47406771 47406771 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 47406771 47406771 G T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.3100 p.L1034I 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 76 0 0.00 72 4 5.26 NCAPD3 0 genome.wustl.edu 37 11 134037925 134037925 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 134037925 134037925 A G SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.3539 p.V1180A 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 38 0 0.00 38 2 5.00 NDUFB7 0 genome.wustl.edu 37 19 14682780 14682780 + Silent SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 14682780 14682780 G T SNP NDUFB7 ENST00000215565 human ensembl 74_37 -1 known silent c.33 p.G11 0.010 NULL pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 tier1 - - 27 0 0.00 25 4 13.79 NEB 0 genome.wustl.edu 37 2 152448643 152448643 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 152448643 152448643 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.14731 p.R4911C 0.941 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 326 0 0.00 286 33 10.34 NFE2L2 0 genome.wustl.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 178098810 178098810 C T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.235 p.E79K 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 101 0 0.00 91 52 36.36 NIPA2 0 genome.wustl.edu 37 15 23006588 23006588 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 23006588 23006588 G A SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.716 p.A239V 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 tier1 - - 32 0 0.00 45 7 13.46 NKX2-2 0 genome.wustl.edu 37 20 21492752 21492752 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 20 21492752 21492752 C A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known missense c.631 p.D211Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 tier1 - - 93 0 0.00 92 10 9.80 NRXN3 0 genome.wustl.edu 37 14 79432736 79432736 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 79432736 79432736 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2731 p.E911K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 35 0 0.00 28 2 6.67 NT5E 0 genome.wustl.edu 37 6 86181158 86181158 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 86181158 86181158 A G SNP NT5E ENST00000369646 human ensembl 74_37 +1 known missense c.766 p.R256G 0.000 NULL pfam_PEstase_dom,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 tier1 - - 78 0 0.00 59 4 6.35 ODF2L 0 genome.wustl.edu 37 1 86848664 86848664 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 86848664 86848664 C T SNP ODF2L ENST00000317336 human ensembl 74_37 -1 known missense c.457 p.E153K 1.000 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 tier1 - - 105 0 0.00 92 14 12.96 OPA3 0 genome.wustl.edu 37 19 46032328 46032328 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 46032328 46032328 C T SNP OPA3 ENST00000323060 human ensembl 74_37 -1 known missense c.529 p.A177T 0.000 NULL pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 tier1 - - 18 0 0.00 8 9 52.94 OPRL1 0 genome.wustl.edu 37 20 62730100 62730100 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 20 62730100 62730100 A G SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.1061 p.K354R 0.994 prints_X_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 tier1 - - 45 0 0.00 26 7 20.59 OR2B2 0 genome.wustl.edu 37 6 27879293 27879293 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 27879293 27879293 C A SNP OR2B2 ENST00000303324 human ensembl 74_37 -1 known missense c.805 p.D269Y 0.072 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 tier1 - - 91 0 0.00 85 13 13.27 OR2T33 0 genome.wustl.edu 37 1 248436938 248436938 + Missense_Mutation SNP A A C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 248436938 248436938 A C SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.179 p.L60R 0.840 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 OR2T33 HGNC ENSG00000177212 tier1 - - 86 0 0.00 56 15 21.13 OR2T8 0 genome.wustl.edu 37 1 248084839 248084839 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 248084839 248084839 C T SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.520 p.H174Y 0.579 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 rs200305171 - 33 0 0.00 56 6 9.68 OR4C11 0 genome.wustl.edu 37 11 55371598 55371598 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 55371598 55371598 G A SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known silent c.252 p.L84 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 OR4C11 HGNC ENSG00000172188 tier1 - - 57 0 0.00 15 50 76.92 OR4D10 0 genome.wustl.edu 37 11 59245409 59245409 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 59245409 59245409 C T SNP OR4D10 ENST00000530162 human ensembl 74_37 +1 known silent c.507 p.C169 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 tier1 - - 77 0 0.00 42 42 50.00 OSBPL6 0 genome.wustl.edu 37 2 179238720 179238720 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 179238720 179238720 A G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1511 p.E504G 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 67 0 0.00 65 4 5.80 PAPD4 0 genome.wustl.edu 37 5 78944904 78944904 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 78944904 78944904 G A SNP PAPD4 ENST00000296783 human ensembl 74_37 +1 known silent c.918 p.P306 0.005 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 tier1 - - 137 0 0.00 35 72 67.29 PAPD5 0 genome.wustl.edu 37 16 50264337 50264337 + RNA SNP C C G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 50264337 50264337 C G SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.315 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 41 0 0.00 39 21 35.00 PARL 0 genome.wustl.edu 37 3 183551536 183551538 + In_Frame_Del DEL CGG CGG - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 183551536 183551538 CGG 0 DEL PARL ENST00000317096 human ensembl 74_37 -1 known in_frame_del c.906_904 p.P302in_frame_del 0.275:1.000:1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC ENSG00000175193 68 0 0.00 85 9 9.57 PARL 0 genome.wustl.edu 37 3 183551540 183551547 + Frame_Shift_Del DEL AGGAAAAT AGGAAAAT - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 AGGAAAAT AGGAAAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 183551540 183551547 AGGAAAAT 0 DEL PARL ENST00000317096 human ensembl 74_37 -1 known frame_shift_del c.902_895 p.I299fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC ENSG00000175193 70 0 0.00 82 9 9.89 PCCA 0 genome.wustl.edu 37 13 100962086 100962086 + Splice_Site SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 13 100962086 100962086 G T SNP PCCA ENST00000376285 human ensembl 74_37 +1 known splice_site c.1354-1 e16-1 1.000 - - - no_errors PCCA HGNC ENSG00000175198 49 0 0.00 55 4 6.67 PCNT 0 genome.wustl.edu 37 21 47786900 47786900 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 21 47786900 47786900 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.3011 p.K1004R 0.093 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 45 0 0.00 57 4 6.56 PDE3A 0 genome.wustl.edu 37 12 20774228 20774228 + Splice_Site SNP A A C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 20774228 20774228 A C SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known splice_site c.1425-2 e5-2 0.001 - - - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 56 0 0.00 61 17 21.79 PDIA5 0 genome.wustl.edu 37 3 122842926 122842926 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 122842926 122842926 T C SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.623 p.M208T 1.000 pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 78 0 0.00 62 4 6.06 PER3 0 genome.wustl.edu 37 1 7887202 7887202 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 7887202 7887202 G A SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2189 p.R730Q 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 42 0 0.00 38 3 7.32 PEX2 0 genome.wustl.edu 37 8 77896250 77896250 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 77896250 77896250 C T SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known silent c.165 p.E55 0.996 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 tier1 - - 92 0 0.00 95 19 16.67 PHC2 0 genome.wustl.edu 37 1 33796985 33796985 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 33796985 33796985 C T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.1970 p.R657H 1.000 pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 tier1 - - 92 0 0.00 69 25 26.60 PHKB 0 genome.wustl.edu 37 16 47699944 47699944 + Splice_Site SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 47699944 47699944 G A SNP PHKB ENST00000299167 human ensembl 74_37 +1 known splice_site c.2427+1 e25+1 1.000 - - - no_errors PHKB HGNC ENSG00000102893 tier1 - - 60 0 0.00 76 4 5.00 PIGT 0 genome.wustl.edu 37 20 44045206 44045206 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 20 44045206 44045206 G T SNP PIGT ENST00000279036 human ensembl 74_37 +1 known missense c.237 p.K79N 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 tier1 - - 61 0 0.00 57 13 18.57 PIK3AP1 0 genome.wustl.edu 37 10 98469469 98469469 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 98469469 98469469 C T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known silent c.285 p.P95 0.001 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 - - 50 0 0.00 42 10 19.23 PITRM1 0 genome.wustl.edu 37 10 3208496 3208496 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 3208496 3208496 G T SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.343 p.Q115K 0.176 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 72 0 0.00 73 4 5.19 PLEKHM3 0 genome.wustl.edu 37 2 208842214 208842214 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 208842214 208842214 G A SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.707 p.S236L 0.994 smart_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 tier1 - - 64 0 0.00 88 20 18.52 POMP 0 genome.wustl.edu 37 13 29242660 29242660 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 13 29242660 29242660 G A SNP POMP ENST00000380842 human ensembl 74_37 +1 known silent c.213 p.Q71 1.000 pfam_UMP1 pfam_UMP1 - no_errors POMP HGNC ENSG00000132963 tier1 - - 68 0 0.00 46 10 17.86 PRAM1 0 genome.wustl.edu 37 19 8555253 8555253 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 8555253 8555253 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known silent c.1944 p.E648 1.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 64 0 0.00 32 15 31.91 PRB3 0 genome.wustl.edu 37 12 11420400 11420400 + Silent SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 11420400 11420400 T C SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known silent c.657 p.P219 0.004 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 117 0 0.00 108 39 26.53 PSME3 0 genome.wustl.edu 37 17 40990730 40990730 + Missense_Mutation SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 40990730 40990730 A G SNP PSME3 ENST00000293362 human ensembl 74_37 +1 known missense c.427 p.I143V 0.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME3 HGNC ENSG00000131467 tier1 - - 43 0 0.00 28 4 12.50 PTH2 0 genome.wustl.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 49926531 49926533 CAG 0 DEL PTH2 ENST00000270631 human ensembl 74_37 -1 known in_frame_del c.66_64 p.L22in_frame_del 0.016:0.132:0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 125 0 0.00 117 7 5.65 PURG 0 genome.wustl.edu 37 8 30889849 30889849 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 30889849 30889849 C T SNP PURG ENST00000475541 human ensembl 74_37 -1 known silent c.450 p.Q150 0.169 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 tier1 - - 25 0 0.00 22 10 31.25 QRFPR 0 genome.wustl.edu 37 4 122250821 122250821 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 122250821 122250821 G A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.944 p.A315V 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 68 0 0.00 46 4 8.00 RAET1E-AS1 0 genome.wustl.edu 37 6 150240472 150240472 + RNA SNP A A G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 150240472 150240472 A G SNP RAET1E-AS1 ENST00000446954 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RAET1E-AS1 HGNC ENSG00000223701 tier1 - - 89 0 0.00 48 6 11.11 ROBO4 0 genome.wustl.edu 37 11 124761271 124761271 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 124761271 124761271 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known silent c.1872 p.L624 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 tier1 - - 99 0 0.00 43 42 49.41 RTN1 0 genome.wustl.edu 37 14 60193766 60193766 + Nonsense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 60193766 60193766 C A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known nonsense c.1636 p.E546* 0.001 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 109 0 0.00 43 25 36.76 SARM1 0 genome.wustl.edu 37 17 26708470 26708470 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 26708470 26708470 C A SNP SARM1 ENST00000457710 human ensembl 74_37 +1 novel missense c.617 p.A206E 0.980 superfamily_ARM-type_fold pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 20 0 0.00 11 5 31.25 SCAF11 0 genome.wustl.edu 37 12 46318804 46318804 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 46318804 46318804 T C SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.3613 p.I1205V 0.840 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 rs150376258 - 138 0 0.00 122 28 18.67 SCUBE3 0 genome.wustl.edu 37 6 35211895 35211895 + Missense_Mutation SNP T T A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 35211895 35211895 T A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.2275 p.C759S 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 44 0 0.00 44 4 8.33 SEMA6D 0 genome.wustl.edu 37 15 48062933 48062933 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 48062933 48062933 G T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2173 p.V725F 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 21 0 0.00 14 12 46.15 SGTA 0 genome.wustl.edu 37 19 2762546 2762546 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 2762546 2762546 G A SNP SGTA ENST00000221566 human ensembl 74_37 -1 known silent c.594 p.N198 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC ENSG00000104969 tier1 - - 23 0 0.00 17 8 32.00 SLC16A3 0 genome.wustl.edu 37 17 80193919 80193919 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 80193919 80193919 G T SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known missense c.35 p.G12V 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 80 0 0.00 74 4 5.13 SLC22A20 0 genome.wustl.edu 37 11 64981506 64981506 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 64981506 64981506 G A SNP SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SLC22A20 HGNC ENSG00000197847 106 0 0.00 90 5 5.21 SLC30A10 0 genome.wustl.edu 37 1 220101732 220101732 + Silent SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 220101732 220101732 G T SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known silent c.51 p.L17 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 tier1 - - 32 0 0.00 44 4 8.33 SLC30A9 0 genome.wustl.edu 37 4 42072671 42072671 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 42072671 42072671 C T SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known missense c.1381 p.R461W 0.999 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 tier1 - - 56 0 0.00 36 4 10.00 SLC3A1 0 genome.wustl.edu 37 2 44513196 44513196 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 44513196 44513196 G C SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.791 p.W264S 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 tier1 - - 45 0 0.00 66 8 10.81 SLC48A1 0 genome.wustl.edu 37 12 48173962 48173962 + Silent SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 48173962 48173962 C T SNP SLC48A1 ENST00000442218 human ensembl 74_37 +1 known silent c.339 p.S113 0.761 NULL NULL - no_errors SLC48A1 HGNC ENSG00000211584 62 0 0.00 71 4 5.33 SLC5A10 0 genome.wustl.edu 37 17 18916758 18916758 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 18916758 18916758 C T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.1066 p.R356W 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 tier1 - - 53 0 0.00 47 4 7.84 SLC6A17 0 genome.wustl.edu 37 1 110709554 110709554 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 110709554 110709554 G T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 28 0 0.00 11 4 26.67 SLC8A1 0 genome.wustl.edu 37 2 40656660 40656660 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 40656660 40656660 C A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.761 p.R254M 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 47 0 0.00 72 9 11.11 SLCO1C1 0 genome.wustl.edu 37 12 20874792 20874792 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 20874792 20874792 G C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.830 p.G277A 1.000 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 76 0 0.00 54 12 18.18 SLCO3A1 0 genome.wustl.edu 37 15 92706515 92706516 + RNA INS - - T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 92706515 92706516 - T INS SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.996:0.998 - - - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 42 0 0.00 34 2 5.56 SLMAP 0 genome.wustl.edu 37 3 57743485 57743485 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 57743485 57743485 G A SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.107 p.R36H 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 37 0 0.00 39 3 7.14 SLX4 0 genome.wustl.edu 37 16 3656556 3656556 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 3656556 3656556 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.679 p.A227T 0.015 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 rs147872182 - 63 0 0.00 28 26 48.15 SNTB1 0 genome.wustl.edu 37 8 121644774 121644774 + Silent SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 121644774 121644774 G T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known silent c.906 p.T302 0.575 NULL pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 tier1 - - 38 0 0.00 52 4 7.14 SOCS6 0 genome.wustl.edu 37 18 67992415 67992415 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 67992415 67992415 G A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known missense c.511 p.V171I 0.993 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 tier1 - - 38 0 0.00 31 27 46.55 SPATS2 0 genome.wustl.edu 37 12 49919998 49919998 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 12 49919998 49919998 G A SNP SPATS2 ENST00000321898 human ensembl 74_37 +1 known missense c.1598 p.R533H 1.000 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 71 0 0.00 87 5 5.43 SRPR 0 genome.wustl.edu 37 11 126137496 126137499 + Frame_Shift_Del DEL TTAA TTAA - TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 TTAA TTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 126137496 126137499 TTAA - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.313_310 p.L104fs 0.997:0.975:0.976:0.759 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 tier1 60 0 0.00 31 11 26.19 SRRT 0 genome.wustl.edu 37 7 100484427 100484427 + Silent SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 100484427 100484427 G T SNP SRRT ENST00000388793 human ensembl 74_37 +1 known silent c.1656 p.S552 0.031 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 - - 29 0 0.00 33 4 10.53 ST14 0 genome.wustl.edu 37 11 130068269 130068269 + Missense_Mutation SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 11 130068269 130068269 A T SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.1526 p.D509V 0.998 pirsf_Peptidase_S1A_matripase,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 tier1 - - 91 0 0.00 32 29 47.54 STARD5 0 genome.wustl.edu 37 15 81614790 81614790 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 15 81614790 81614790 C T SNP STARD5 ENST00000302824 human ensembl 74_37 -1 known missense c.241 p.E81K 0.990 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD5 HGNC ENSG00000172345 tier1 - - 66 0 0.00 14 28 66.67 STIL 0 genome.wustl.edu 37 1 47746765 47746765 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 47746765 47746765 C A SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.1365 p.L455F 0.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 tier1 - - 77 0 0.00 61 29 32.22 SUPT16H 0 genome.wustl.edu 37 14 21825402 21825402 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 21825402 21825402 T C SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known missense c.2614 p.N872D 1.000 pfam_DUF1747 pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 93 0 0.00 62 4 6.06 SYNE2 0 genome.wustl.edu 37 14 64491122 64491122 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 64491122 64491122 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.5785 p.S1929P 0.659 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 54 0 0.00 25 13 34.21 SYT6 0 genome.wustl.edu 37 1 114640468 114640468 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 114640468 114640468 G T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.1396 p.R466S 0.997 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 73 0 0.00 42 3 6.67 TACC2 0 genome.wustl.edu 37 10 123844509 123844509 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 123844509 123844509 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.2494 p.P832S 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 64 0 0.00 60 4 6.25 TADA1 0 genome.wustl.edu 37 1 166831610 166831610 + Nonsense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 166831610 166831610 G A SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known nonsense c.370 p.Q124* 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 tier1 - - 78 0 0.00 67 12 15.19 TADA3 0 genome.wustl.edu 37 3 9825821 9825821 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 9825821 9825821 G T SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.997 p.R333S 1.000 pfam_Histone_AcTrfase_su3 pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 48 0 0.00 55 3 5.17 TAF7 0 genome.wustl.edu 37 5 140698912 140698912 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 140698912 140698912 C A SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.700 p.D234Y 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 tier1 - - 33 0 0.00 9 16 64.00 TBC1D25 0 genome.wustl.edu 37 X 48417663 48417663 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e X 48417663 48417663 G A SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known missense c.634 p.G212S 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 tier1 - - 28 0 0.00 3 15 83.33 TDRD6 0 genome.wustl.edu 37 6 46657521 46657521 + Silent SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 6 46657521 46657521 T C SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.1656 p.Y552 0.979 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 146 0 0.00 107 79 42.47 TENM1 0 genome.wustl.edu 37 X 123680763 123680763 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e X 123680763 123680763 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2612 p.S871N 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 37 0 0.00 3 22 88.00 THRB 0 genome.wustl.edu 37 3 24231691 24231691 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 24231691 24231691 G T SNP THRB ENST00000356447 human ensembl 74_37 -1 known missense c.157 p.Q53K 0.984 NULL 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 45 0 0.00 57 3 5.00 TIGD2 0 genome.wustl.edu 37 4 90034798 90034798 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 90034798 90034798 C T SNP TIGD2 ENST00000317005 human ensembl 74_37 +1 known missense c.673 p.L225F 1.000 pfam_DDE_SF_endonuclease_CENPB-like 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 TIGD2 HGNC ENSG00000180346 85 0 0.00 38 2 5.00 TMEM159 0 genome.wustl.edu 37 16 21181911 21181911 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 21181911 21181911 G A SNP TMEM159 ENST00000573487 human ensembl 74_37 +1 known missense c.322 p.V108I 1.000 NULL NULL - no_errors TMEM159 HGNC ENSG00000011638 tier1 - - 73 0 0.00 73 23 23.96 TMEM230 0 genome.wustl.edu 37 20 5093572 5093572 + RNA SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 20 5093572 5093572 G C SNP TMEM230 ENST00000492419 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM230 HGNC ENSG00000089063 tier1 - - 18 0 0.00 10 10 50.00 TP53 0 genome.wustl.edu 37 17 7578427 7578427 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 7578427 7578427 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.503 p.H168R 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 45 0 0.00 10 17 62.96 TRPC1 0 genome.wustl.edu 37 3 142521063 142521063 + Missense_Mutation SNP T T G TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 142521063 142521063 T G SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.1634 p.L545R 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 tier1 - - 122 0 0.00 163 30 15.54 TTN 0 genome.wustl.edu 37 2 179411010 179411010 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 2 179411010 179411010 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.87344 p.S29115I 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 53 0 0.00 51 31 37.80 TUBGCP3 0 genome.wustl.edu 37 13 113140238 113140238 + RNA SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 13 113140238 113140238 G A SNP TUBGCP3 ENST00000469302 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBGCP3 HGNC ENSG00000126216 tier1 - - 30 0 0.00 23 5 17.86 TXNIP 0 genome.wustl.edu 37 1 145440123 145440123 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 145440123 145440123 G T SNP TXNIP ENST00000369317 human ensembl 74_37 +1 known missense c.557 p.R186I 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 tier1 - - 63 0 0.00 95 5 5.00 UBE2D3 0 genome.wustl.edu 37 4 103720600 103720600 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 4 103720600 103720600 G A SNP UBE2D3 ENST00000357194 human ensembl 74_37 -1 known missense c.368 p.P123L 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D3 HGNC ENSG00000109332 tier1 - - 66 0 0.00 50 4 7.41 UFC1 0 genome.wustl.edu 37 1 161123890 161123890 + Nonsense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 1 161123890 161123890 G T SNP UFC1 ENST00000368003 human ensembl 74_37 +1 known nonsense c.103 p.E35* 1.000 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1 - no_errors UFC1 HGNC ENSG00000143222 tier1 - - 93 0 0.00 43 62 58.49 USP13 0 genome.wustl.edu 37 3 179481948 179481948 + Nonsense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 179481948 179481948 C T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known nonsense c.2251 p.R751* 0.909 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 tier1 - - 37 0 0.00 40 4 9.09 VCAN 0 genome.wustl.edu 37 5 82834775 82834775 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 82834775 82834775 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.5953 p.D1985Y 0.106 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 39 0 0.00 41 4 8.89 VPS13B 0 genome.wustl.edu 37 8 100286546 100286546 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 100286546 100286546 G T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.2636 p.C879F 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 139 0 0.00 127 41 24.40 WASH6P 0 genome.wustl.edu 37 X 155251329 155251329 + RNA SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e X 155251329 155251329 G C SNP WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.899 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 43 0 0.00 36 13 26.53 WDR41 0 genome.wustl.edu 37 5 76736675 76736675 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 5 76736675 76736675 T C SNP WDR41 ENST00000296679 human ensembl 74_37 -1 known missense c.845 p.N282S 1.000 superfamily_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 WDR41 HGNC ENSG00000164253 tier1 - - 68 0 0.00 22 29 56.86 XKR4 0 genome.wustl.edu 37 8 56015428 56015428 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 8 56015428 56015428 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.380 p.G127D 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 23 0 0.00 21 4 16.00 YY1 0 genome.wustl.edu 37 14 100728689 100728689 + Missense_Mutation SNP T T C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 14 100728689 100728689 T C SNP YY1 ENST00000262238 human ensembl 74_37 +1 known missense c.728 p.I243T 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 107 0 0.00 76 4 5.00 ZFP90 0 genome.wustl.edu 37 16 68598471 68598471 + Missense_Mutation SNP C C A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 68598471 68598471 C A SNP ZFP90 ENST00000398253 human ensembl 74_37 +1 known missense c.1781 p.T594N 0.003 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 ZFP90 HGNC ENSG00000184939 tier1 - - 60 0 0.00 70 27 27.84 ZIC1 0 genome.wustl.edu 37 3 147130385 147130385 + Missense_Mutation SNP G G C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 3 147130385 147130385 G C SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.1063 p.V355L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 tier1 - - 89 0 0.00 101 18 15.13 ZMIZ2 0 genome.wustl.edu 37 7 44798936 44798936 + Missense_Mutation SNP G G T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 7 44798936 44798936 G T SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.870 p.Q290H 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 39 0 0.00 30 2 6.25 ZNF236 0 genome.wustl.edu 37 18 74583664 74583664 + Missense_Mutation SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 18 74583664 74583664 A T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.544 p.S182C 0.962 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 105 0 0.00 65 4 5.80 ZNF257 0 genome.wustl.edu 37 19 22272088 22272088 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 22272088 22272088 G A SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.1536 p.E512 1.000 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 ZNF257 HGNC ENSG00000197134 tier1 - - 84 0 0.00 108 18 14.29 ZNF33A 0 genome.wustl.edu 37 10 38345270 38345270 + Nonsense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 10 38345270 38345270 C T SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known nonsense c.2236 p.Q746* 0.852 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 tier1 - - 104 0 0.00 105 19 15.32 ZNF557 0 genome.wustl.edu 37 19 7083472 7083472 + Missense_Mutation SNP A A T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 7083472 7083472 A T SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known missense c.1010 p.Q337L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF557 HGNC ENSG00000130544 tier1 - - 90 0 0.00 71 18 20.22 ZNF57 0 genome.wustl.edu 37 19 2917842 2917842 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 2917842 2917842 G A SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.1223 p.R408Q 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 ZNF57 HGNC ENSG00000171970 91 0 0.00 69 4 5.48 ZNF646 0 genome.wustl.edu 37 16 31088964 31088964 + Missense_Mutation SNP C C T TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 16 31088964 31088964 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1319 p.P440L 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 64 0 0.00 65 4 5.80 ZNF750 0 genome.wustl.edu 37 17 80790167 80790167 + Nonsense_Mutation SNP A A C TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 17 80790167 80790167 A C SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known nonsense c.164 p.L55* 0.159 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 tier1 - - 63 0 0.00 21 54 72.00 ZNF850 0 genome.wustl.edu 37 19 37252549 37252549 + Silent SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2122239f-6b34-4f6e-a711-e565169172b3 0e29cd53-4d6f-41dc-8e26-f769aa78f35e 19 37252549 37252549 G A SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known silent c.231 p.C77 0.015 pfscan_Krueppel-associated_box 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 ZNF850 HGNC ENSG00000267041 tier1 - - 62 0 0.00 66 4 5.71