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 ABCA12 0 genome.wustl.edu 37 2 215865498 215865498 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 215865498 215865498 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.3110 p.T1037N 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 32 0 0.00 31 2 6.06 ABCB1 0 genome.wustl.edu 37 7 87150134 87150134 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 87150134 87150134 T G SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2744 p.K915T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 45 0 0.00 54 10 15.62 ACCSL 0 genome.wustl.edu 37 11 44074968 44074968 + Nonsense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 44074968 44074968 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known nonsense c.961 p.R321* 0.943 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 tier1 - - 37 0 0.00 46 16 25.40 ADAM2 0 genome.wustl.edu 37 8 39695677 39695677 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 39695677 39695677 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.28 p.G10R 0.295 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 61 0 0.00 75 7 8.54 ADAM32 0 genome.wustl.edu 37 8 39018479 39018479 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 39018479 39018479 A C SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.589 p.T197P 0.487 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 tier1 - - 136 0 0.00 121 48 28.40 ADAMTS20 0 genome.wustl.edu 37 12 43944806 43944806 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 43944806 43944806 T G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.359 p.D120A 0.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 61 0 0.00 49 4 7.55 ADC 0 genome.wustl.edu 37 1 33547001 33547001 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 33547001 33547001 C T SNP ADC ENST00000462920 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ADC HGNC ENSG00000142920 tier1 - - 87 0 0.00 45 40 47.06 ADCY2 0 genome.wustl.edu 37 5 7727305 7727305 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 7727305 7727305 A C SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1802 p.K601T 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 87 0 0.00 70 47 40.17 ADD1 0 genome.wustl.edu 37 4 2930143 2930143 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 2930143 2930143 G A SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known missense c.2200 p.A734T 0.002 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 tier1 - - 42 0 0.00 14 15 51.72 ADD1 0 genome.wustl.edu 37 4 2931593 2931593 + RNA SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 2931593 2931593 T C SNP ADD1 ENST00000538860 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ADD1 HGNC ENSG00000087274 tier1 - - 41 0 0.00 23 24 51.06 ADD3 0 genome.wustl.edu 37 10 111879026 111879026 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 111879026 111879026 G A SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.775 p.D259N 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 39 0 0.00 44 3 6.38 ADPRH 0 genome.wustl.edu 37 3 119306346 119306346 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 119306346 119306346 A C SNP ADPRH ENST00000357003 human ensembl 74_37 +1 known missense c.695 p.K232T 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 tier1 - - 54 0 0.00 41 10 19.61 ADPRH 0 genome.wustl.edu 37 3 119306349 119306349 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 119306349 119306349 T G SNP ADPRH ENST00000357003 human ensembl 74_37 +1 known missense c.698 p.L233R 0.995 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 tier1 - - 56 0 0.00 41 10 19.61 AGAP7 0 genome.wustl.edu 37 10 51465248 51465248 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 51465248 51465248 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1208 p.T403M 0.504 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 tier1 - - 245 0 0.00 169 28 14.21 AJAP1 0 genome.wustl.edu 37 1 4772742 4772742 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 4772742 4772742 T G SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.812 p.I271S 0.995 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 80 0 0.00 28 45 61.64 ALS2CR12 0 genome.wustl.edu 37 2 202213001 202213001 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 202213001 202213001 T G SNP ALS2CR12 ENST00000286190 human ensembl 74_37 -1 known missense c.210 p.Q70H 0.009 NULL superfamily_t-SNARE - no_errors ALS2CR12 HGNC ENSG00000155749 tier1 - - 26 0 0.00 26 4 12.90 ANAPC4 0 genome.wustl.edu 37 4 25419982 25419982 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 25419982 25419982 T G SNP ANAPC4 ENST00000510092 human ensembl 74_37 +1 known missense c.2408 p.L803R 0.336 pirsf_APC4_metazoa superfamily_WD40_repeat_dom,pirsf_APC4_metazoa - no_errors ANAPC4 HGNC ENSG00000053900 tier1 - - 39 0 0.00 21 5 19.23 ANHX 0 genome.wustl.edu 37 12 133804486 133804486 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 133804486 133804486 T G SNP ANHX ENST00000419717 human ensembl 74_37 -1 known missense c.425 p.N142T 0.990 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ANHX HGNC ENSG00000227059 tier1 - - 32 0 0.00 28 5 15.15 AOC2 0 genome.wustl.edu 37 17 40997484 40997484 + Nonsense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 40997484 40997484 G T SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known nonsense c.841 p.E281* 0.332 superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 tier1 - - 56 0 0.00 57 5 8.06 APOB 0 genome.wustl.edu 37 2 21231710 21231710 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 21231710 21231710 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.8030 p.D2677A 0.999 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 47 0 0.00 25 14 35.90 ARHGAP23 0 genome.wustl.edu 37 17 36622834 36622834 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 36622834 36622834 C T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.910 p.R304W 1.000 NULL pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 tier1 - - 19 0 0.00 10 5 33.33 ARL15 0 genome.wustl.edu 37 5 53409096 53409096 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 53409096 53409096 C T SNP ARL15 ENST00000504924 human ensembl 74_37 -1 known missense c.398 p.C133Y 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL15 HGNC ENSG00000185305 tier1 - - 22 0 0.00 14 5 26.32 ASB1 0 genome.wustl.edu 37 2 239355133 239355133 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 239355133 239355133 A C SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.989 p.K330T 0.168 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 tier1 - - 33 0 0.00 48 11 18.64 ASTN2 0 genome.wustl.edu 37 9 119738455 119738455 + Nonsense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 9 119738455 119738455 G T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known nonsense c.1689 p.Y563* 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 20 0 0.00 25 10 28.57 ATP10D 0 genome.wustl.edu 37 4 47570977 47570977 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 47570977 47570977 T G SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.2977 p.L993V 0.001 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 51 0 0.00 43 7 14.00 ATP6V1H 0 genome.wustl.edu 37 8 54742095 54742096 + Splice_Site INS - - A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 54742095 54742096 - A INS ATP6V1H ENST00000359530 human ensembl 74_37 -1 known splice_site_ins c.217-3_217-2 e3-2 0.998:0.112 - - - no_errors ATP6V1H HGNC ENSG00000047249 tier1 30 0 0.00 22 3 12.00 AXIN2 0 genome.wustl.edu 37 17 63531788 63531788 + Missense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 63531788 63531788 C A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.2193 p.Q731H 0.009 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 25 0 0.00 19 8 29.63 BCL2L11 0 genome.wustl.edu 37 2 111881326 111881326 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 111881326 111881326 G T SNP BCL2L11 ENST00000393256 human ensembl 74_37 +1 known missense c.4 p.A2S 1.000 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 26 0 0.00 31 2 6.06 BCL9L 0 genome.wustl.edu 37 11 118770650 118770650 + Missense_Mutation SNP G G C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 118770650 118770650 G C SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3382 p.P1128A 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 94 0 0.00 74 7 8.64 C19orf54 0 genome.wustl.edu 37 19 41255500 41255500 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 41255500 41255500 C T SNP C19orf54 ENST00000378313 human ensembl 74_37 -1 known missense c.209 p.R70H 1.000 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 tier1 - - 48 0 0.00 19 28 30.77 C1QTNF7 0 genome.wustl.edu 37 4 15444285 15444285 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 15444285 15444285 A C SNP C1QTNF7 ENST00000429690 human ensembl 74_37 +1 known missense c.732 p.E244D 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 tier1 - - 41 0 0.00 22 6 21.43 C1orf106 0 genome.wustl.edu 37 1 200878069 200878069 + Splice_Site SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 200878069 200878069 G T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known splice_site c.1040+1 e7+1 1.000 - - - no_errors C1orf106 HGNC ENSG00000163362 tier1 - - 53 0 0.00 18 28 60.87 C1orf94 0 genome.wustl.edu 37 1 34662990 34662990 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 34662990 34662990 T C SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.485 p.L162P 0.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 42 0 0.00 25 4 13.79 C5orf27 0 genome.wustl.edu 37 5 95194594 95194594 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 95194594 95194594 A C SNP C5orf27 ENST00000357880 human ensembl 74_37 +1 known missense c.161 p.E54A 0.000 NULL NULL - no_errors C5orf27 HGNC ENSG00000236882 tier1 - - 45 0 0.00 29 14 32.56 C7orf63 0 genome.wustl.edu 37 7 89894658 89894658 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 89894658 89894658 G A SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.400 p.A134T 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 tier1 - - 42 0 0.00 41 18 30.51 CACNA1A 0 genome.wustl.edu 37 19 13325067 13325067 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 13325067 13325067 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.5920 p.Q1974K 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 43 0 0.00 36 3 7.69 CACNA2D3 0 genome.wustl.edu 37 3 55002516 55002516 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 55002516 55002516 A C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2489 p.K830T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 52 0 0.00 30 17 36.17 CACNA2D3 0 genome.wustl.edu 37 3 55052344 55052344 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 55052344 55052344 A C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2987 p.K996T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 47 0 0.00 38 26 40.62 CADM2 0 genome.wustl.edu 37 3 85961683 85961683 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 85961683 85961683 A G SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known silent c.669 p.L223 1.000 NULL 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 - - 19 0 0.00 21 4 16.00 CBLN1 0 genome.wustl.edu 37 16 49315182 49315182 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 49315182 49315182 A G SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known silent c.195 p.S65 0.992 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 tier1 - - 101 0 0.00 41 26 38.81 CCDC150 0 genome.wustl.edu 37 2 197511190 197511190 + Silent SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 197511190 197511190 G T SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known silent c.138 p.L46 0.994 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 tier1 - - 53 0 0.00 57 4 6.56 CCDC155 0 genome.wustl.edu 37 19 49912535 49912535 + Nonsense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 49912535 49912535 C T SNP CCDC155 ENST00000447857 human ensembl 74_37 +1 known nonsense c.1141 p.R381* 0.139 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 tier1 - - 40 0 0.00 29 15 34.09 CCDC178 0 genome.wustl.edu 37 18 30928927 30928927 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 30928927 30928927 A G SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.384 p.S128 0.028 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 35 0 0.00 31 6 16.22 CCDC61 0 genome.wustl.edu 37 19 46511520 46511520 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 46511520 46511520 G A SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.683 p.R228Q 0.518 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 tier1 - - 62 0 0.00 43 15 25.86 CECR2 0 genome.wustl.edu 37 22 18022577 18022577 + Frame_Shift_Del DEL T T - TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 22 18022577 18022577 T - DEL CECR2 ENST00000400573 human ensembl 74_37 +1 novel frame_shift_del c.2679 p.P895fs 0.995 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 44 0 0.00 28 2 6.67 CFHR4 0 genome.wustl.edu 37 1 196884098 196884098 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 196884098 196884098 A C SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.1367 p.K456T 0.018 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 tier1 - - 49 0 0.00 39 8 17.02 CHRNA4 0 genome.wustl.edu 37 20 61987723 61987723 + Missense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 61987723 61987723 C A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.273 p.Q91H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel 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,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 41 0 0.00 30 10 25.00 CLIC4 0 genome.wustl.edu 37 1 25166462 25166462 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 25166462 25166462 G A SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known missense c.527 p.R176H 1.000 superfamily_Glutathione-S-Trfase_C-like,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC4 HGNC ENSG00000169504 tier1 - - 40 0 0.00 27 8 22.86 CNTN3 0 genome.wustl.edu 37 3 74347112 74347112 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 74347112 74347112 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2397 p.E799D 0.975 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 34 0 0.00 44 4 8.33 CNTRL 0 genome.wustl.edu 37 9 123929934 123929934 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 9 123929934 123929934 C T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known silent c.5823 p.L1941 0.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 33 0 0.00 19 6 24.00 COL12A1 0 genome.wustl.edu 37 6 75822931 75822931 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 75822931 75822931 T G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.7939 p.S2647R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 32 0 0.00 25 11 30.56 COL14A1 0 genome.wustl.edu 37 8 121238870 121238870 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 121238870 121238870 A C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.1869 p.E623D 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 40 0 0.00 44 19 30.16 COL23A1 0 genome.wustl.edu 37 5 177689227 177689227 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 177689227 177689227 G A SNP COL23A1 ENST00000390654 human ensembl 74_37 -1 known silent c.666 p.D222 0.001 pfam_Collagen pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 tier1 - - 11 0 0.00 11 7 38.89 COL6A3 0 genome.wustl.edu 37 2 238275437 238275437 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 238275437 238275437 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.5393 p.R1798H 0.822 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 26 0 0.00 34 21 38.18 CPO 0 genome.wustl.edu 37 2 207814372 207814372 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 207814372 207814372 G A SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.100 p.D34N 0.211 NULL pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 tier1 - - 63 0 0.00 42 10 19.23 CPXM2 0 genome.wustl.edu 37 10 125521388 125521388 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 125521388 125521388 T G SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1777 p.S593R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 tier1 - - 50 0 0.00 45 14 23.73 CRB1 0 genome.wustl.edu 37 1 197404057 197404057 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 197404057 197404057 A C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.3064 p.S1022R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 40 0 0.00 35 8 18.60 CRCT1 0 genome.wustl.edu 37 1 152488000 152488000 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 152488000 152488000 C T SNP CRCT1 ENST00000368790 human ensembl 74_37 +1 known silent c.141 p.C47 0.229 NULL NULL - no_errors CRCT1 HGNC ENSG00000169509 tier1 - - 19 0 0.00 9 10 52.63 CRNKL1 0 genome.wustl.edu 37 20 20033128 20033128 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 20033128 20033128 A C SNP CRNKL1 ENST00000496549 human ensembl 74_37 -1 known missense c.212 p.V71G 0.879 NULL NULL - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 116 0 0.00 107 21 16.41 CTR9 0 genome.wustl.edu 37 11 10786207 10786207 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 10786207 10786207 C T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1526 p.A509V 0.990 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 30 0 0.00 29 9 23.68 CUBN 0 genome.wustl.edu 37 10 16970293 16970293 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 16970293 16970293 T G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6134 p.N2045T 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 22 0 0.00 20 4 16.67 CXCR4 0 genome.wustl.edu 37 2 136872220 136872220 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 136872220 136872220 A C SNP CXCR4 ENST00000466288 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors CXCR4 HGNC ENSG00000121966 tier1 - - 36 0 0.00 31 7 18.42 CYP2W1 0 genome.wustl.edu 37 7 1024894 1024894 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 1024894 1024894 G A SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.580 p.V194M 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 tier1 - - 63 0 0.00 58 21 26.58 DCDC1 0 genome.wustl.edu 37 11 30930511 30930511 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 30930511 30930511 T G SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.1137 p.E379D 0.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 46 0 0.00 53 13 19.70 DCLK1 0 genome.wustl.edu 37 13 36348801 36348801 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 36348801 36348801 T C SNP DCLK1 ENST00000255448 human ensembl 74_37 -1 known missense c.2168 p.D723G 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 26 0 0.00 31 5 13.89 DCLK2 0 genome.wustl.edu 37 4 151168808 151168808 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 151168808 151168808 A G SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.1883 p.E628G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 80 0 0.00 36 8 18.18 DCUN1D1 0 genome.wustl.edu 37 3 182683508 182683508 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 182683508 182683508 G T SNP DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known missense c.37 p.R13S 1.000 superfamily_UBA-like pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 19 0 0.00 32 2 5.88 DNAH5 0 genome.wustl.edu 37 5 13729594 13729594 + Nonsense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 13729594 13729594 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.11837 p.L3946* 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 68 0 0.00 78 12 13.33 DNAH5 0 genome.wustl.edu 37 5 13752275 13752275 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 13752275 13752275 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10996 p.R3666G 1.000 NULL 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 tier1 - - 40 0 0.00 28 21 42.86 DNAH5 0 genome.wustl.edu 37 5 13769697 13769697 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 13769697 13769697 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9633 p.K3211N 1.000 NULL 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 tier1 - - 68 0 0.00 77 11 12.50 DNAH7 0 genome.wustl.edu 37 2 196753009 196753009 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 196753009 196753009 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.5379 p.S1793 0.435 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 rs201987961 - 19 0 0.00 11 4 25.00 DOCK3 0 genome.wustl.edu 37 3 51266099 51266099 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 51266099 51266099 A C SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1655 p.E552A 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 126 0 0.00 101 34 25.19 DPY19L2P1 0 genome.wustl.edu 37 7 35121268 35121268 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 35121268 35121268 T G SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 91 0 0.00 88 19 17.76 DPYSL4 0 genome.wustl.edu 37 10 134015592 134015592 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 134015592 134015592 A C SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1253 p.K418T 0.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 tier1 - - 64 0 0.00 36 15 29.41 DYNC2H1 0 genome.wustl.edu 37 11 103106512 103106512 + Nonsense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 103106512 103106512 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known nonsense c.9679 p.E3227* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 25 0 0.00 45 3 6.25 EBF3 0 genome.wustl.edu 37 10 131676100 131676100 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 131676100 131676100 A C SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.568 p.F190V 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 20 0 0.00 12 3 20.00 EML6 0 genome.wustl.edu 37 2 55074658 55074658 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 55074658 55074658 G A SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel missense c.1085 p.R362H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 tier1 - - 58 0 0.00 35 24 40.68 ENO4 0 genome.wustl.edu 37 10 118620630 118620630 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 118620630 118620630 T A SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.868 p.S290T 1.000 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 33 0 0.00 13 9 40.91 ENSG00000212045 0 genome.wustl.edu 37 4 29751865 29751865 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 29751865 29751865 A C SNP ENSG00000212045 ENST00000390756 human ensembl 74_37 +1 novel rna NULL NULL 0.991 - - - no_errors AC109351.1 Clone_based_ensembl_gene ENSG00000212045 tier1 - - 41 0 0.00 32 9 21.95 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65394 65394 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b GL000212.1 65394 65394 G A SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.1143 p.L381 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 60 0 0.00 34 8 18.60 ENSG00000214581 0 genome.wustl.edu 37 16 34681389 34681389 + RNA SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 34681389 34681389 G T SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 69 0 0.00 25 16 39.02 ENSG00000230189 0 genome.wustl.edu 37 7 65915083 65915083 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 65915083 65915083 C T SNP ENSG00000230189 ENST00000442578 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors GS1-124K5.2 Clone_based_vega_gene ENSG00000230189 tier1 - - 98 0 0.00 120 16 11.76 ENSG00000259540 0 genome.wustl.edu 37 15 101098983 101098983 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 101098983 101098983 C T SNP ENSG00000259540 ENST00000557839 human ensembl 74_37 +1 known rna NULL NULL 0.938 - - - no_errors RP11-526I2.1 Clone_based_vega_gene ENSG00000259540 tier1 - - 40 0 0.00 20 19 48.72 ENSG00000259966 0 genome.wustl.edu 37 16 32611641 32611641 + RNA SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 32611641 32611641 A G SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 87 0 0.00 64 22 25.58 ENSG00000269604 0 genome.wustl.edu 37 19 4794549 4794549 + RNA DEL T T - TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 4794549 4794549 T - DEL ENSG00000269604 ENST00000601192 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors AC005523.2 Clone_based_vega_gene ENSG00000269604 tier1 27 0 0.00 26 3 10.34 ENSG00000270002 0 genome.wustl.edu 37 10 87406943 87406943 + RNA SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 87406943 87406943 G A SNP ENSG00000270002 ENST00000474115 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-93H12.4 Clone_based_vega_gene ENSG00000270002 tier1 - - 47 0 0.00 32 10 23.81 ENSG00000272556 0 genome.wustl.edu 37 7 45854290 45854290 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 45854290 45854290 A C SNP ENSG00000272556 ENST00000609439 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-638I8.1 Clone_based_vega_gene ENSG00000272556 tier1 - - 193 0 0.00 186 24 11.43 EPAS1 0 genome.wustl.edu 37 2 46609651 46609651 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 46609651 46609651 G A SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.2375 p.G792E 0.019 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 - - 34 0 0.00 21 6 22.22 EPHB1 0 genome.wustl.edu 37 3 134920329 134920329 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 134920329 134920329 A G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2144 p.Q715R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 44 0 0.00 47 8 14.55 ERBB4 0 genome.wustl.edu 37 2 212251663 212251663 + Frame_Shift_Del DEL G G - TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 212251663 212251663 G 0 DEL ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_del c.3396 p.T1133fs 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 150 0 0.00 140 10 6.67 EVC 0 genome.wustl.edu 37 4 5812093 5812093 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 5812093 5812093 A C SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.2810 p.K937T 0.974 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 31 0 0.00 20 11 35.48 FAM155A 0 genome.wustl.edu 37 13 108518858 108518858 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 108518858 108518858 G T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.87 p.F29L 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 42 0 0.00 26 12 31.58 FAM171B 0 genome.wustl.edu 37 2 187559026 187559026 + Silent SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 187559026 187559026 C A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known silent c.126 p.I42 1.000 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 54 0 0.00 56 4 6.56 FAM178A 0 genome.wustl.edu 37 10 102677018 102677018 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 102677018 102677018 G T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.876 p.Q292H 0.995 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 32 0 0.00 29 2 6.45 FAM196A 0 genome.wustl.edu 37 10 128974387 128974387 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 128974387 128974387 G A SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known silent c.273 p.P91 0.349 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 tier1 - - 114 0 0.00 120 29 19.46 FAM95B1 0 genome.wustl.edu 37 9 42472162 42472162 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 9 42472162 42472162 C T SNP FAM95B1 ENST00000592873 human ensembl 74_37 +1 known rna NULL NULL 0.057 - - - no_errors FAM95B1 HGNC ENSG00000223839 tier1 - - 34 0 0.00 40 5 11.11 FAT4 0 genome.wustl.edu 37 4 126242658 126242658 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 126242658 126242658 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5092 p.R1698W 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 59 0 0.00 22 8 26.67 FAT4 0 genome.wustl.edu 37 4 126370822 126370822 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 126370822 126370822 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8651 p.L2884R 0.989 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 24 0 0.00 11 7 38.89 FCRL1 0 genome.wustl.edu 37 1 157765845 157765845 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 157765845 157765845 T G SNP FCRL1 ENST00000368175 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL1 HGNC ENSG00000163534 tier1 - - 37 0 0.00 19 7 26.92 FGD4 0 genome.wustl.edu 37 12 32729381 32729381 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 32729381 32729381 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known silent c.90 p.G30 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 tier1 - - 25 0 0.00 10 16 61.54 FGF13 0 genome.wustl.edu 37 X 137785181 137785181 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 137785181 137785181 A C SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.397 p.L133V 0.999 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 12 0 0.00 4 7 63.64 FGFR4 0 genome.wustl.edu 37 5 176519424 176519424 + Missense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 176519424 176519424 C A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.830 p.A277D 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 66 0 0.00 53 4 7.02 FLG2 0 genome.wustl.edu 37 1 152325410 152325410 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 152325410 152325410 C T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.4852 p.G1618R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 201 0 0.00 99 192 65.98 FLG2 0 genome.wustl.edu 37 1 152330122 152330122 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 152330122 152330122 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.140 p.N47T 1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 35 0 0.00 29 10 25.64 FNDC3A 0 genome.wustl.edu 37 13 49710555 49710555 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 49710555 49710555 G T SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.578 p.R193L 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 44 0 0.00 47 3 6.00 FREM1 0 genome.wustl.edu 37 9 14857575 14857575 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 9 14857575 14857575 A G SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.804 p.D268 0.953 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 78 0 0.00 57 28 32.94 FRG2B 0 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 135438753 135438753 G A SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known silent c.687 p.T229 0.707 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 tier1 - - 17 0 0.00 14 6 30.00 FRMPD4 0 genome.wustl.edu 37 X 12734450 12734450 + Silent SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 12734450 12734450 T C SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.1872 p.S624 0.071 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 10 0 0.00 9 3 25.00 FSHR 0 genome.wustl.edu 37 2 49191062 49191062 + Nonsense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 49191062 49191062 C A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known nonsense c.898 p.E300* 1.000 pfam_GnHR_TM,prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 28 0 0.00 29 6 17.14 FSHR 0 genome.wustl.edu 37 2 49210248 49210248 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 49210248 49210248 T A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.582 p.Q194H 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 33 0 0.00 27 14 34.15 GHR 0 genome.wustl.edu 37 5 42700005 42700005 + Silent SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 42700005 42700005 G T SNP GHR ENST00000230882 human ensembl 74_37 +1 known silent c.519 p.V173 0.960 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 29 0 0.00 57 4 6.56 GIMAP8 0 genome.wustl.edu 37 7 150174550 150174550 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 150174550 150174550 G A SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known silent c.1680 p.A560 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 31 0 0.00 18 13 41.94 GNAS 0 genome.wustl.edu 37 20 57428581 57428581 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 57428581 57428581 A C SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.261 p.E87D 0.878 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 38 0 0.00 61 11 15.28 GNPTAB 0 genome.wustl.edu 37 12 102173983 102173983 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 102173983 102173983 T C SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.718 p.T240A 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 59 0 0.00 73 7 8.75 GPR137C 0 genome.wustl.edu 37 14 53066829 53066829 + Splice_Site SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 14 53066829 53066829 A C SNP GPR137C ENST00000321662 human ensembl 74_37 +1 known splice_site c.489-2 e3-2 1.000 - - - no_errors GPR137C HGNC ENSG00000180998 tier1 - - 55 0 0.00 29 19 39.58 GRID2IP 0 genome.wustl.edu 37 7 6548003 6548003 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 6548003 6548003 G A SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative silent c.2157 p.F719 0.016 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 50 0 0.00 56 25 30.86 GVINP1 0 genome.wustl.edu 37 11 6741449 6741449 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 6741449 6741449 A C SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 17 0 0.00 15 11 42.31 HAND2-AS1 0 genome.wustl.edu 37 4 174459710 174459710 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 174459710 174459710 T G SNP HAND2-AS1 ENST00000502334 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors HAND2-AS1 HGNC ENSG00000237125 11 0 0.00 2 2 50.00 HCN4 0 genome.wustl.edu 37 15 73617465 73617465 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 73617465 73617465 G A SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known silent c.1809 p.F603 0.941 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 72 0 0.00 52 24 31.58 HEATR6 0 genome.wustl.edu 37 17 58124698 58124698 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 58124698 58124698 G T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.2741 p.A914D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 tier1 - - 81 0 0.00 76 4 5.00 HECTD4 0 genome.wustl.edu 37 12 112622687 112622687 + Silent SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 112622687 112622687 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.9567 p.L3189 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 123 0 0.00 85 38 30.89 HHEX 0 genome.wustl.edu 37 10 94454489 94454489 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 94454489 94454489 C T SNP HHEX ENST00000282728 human ensembl 74_37 +1 known silent c.777 p.D259 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HHEX HGNC ENSG00000152804 44 0 0.00 31 2 6.06 HTR2A 0 genome.wustl.edu 37 13 47409370 47409370 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 47409370 47409370 A C SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.1018 p.F340V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 tier1 - - 39 0 0.00 39 10 20.41 IFI16 0 genome.wustl.edu 37 1 159019232 159019232 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 159019232 159019232 A G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1508 p.D503G 0.003 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 24 0 0.00 23 6 20.69 IGF2R 0 genome.wustl.edu 37 6 160505029 160505029 + Nonsense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 160505029 160505029 G T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known nonsense c.5881 p.E1961* 0.279 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 24 0 0.00 28 2 6.67 IL19 0 genome.wustl.edu 37 1 207014366 207014366 + Silent SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 207014366 207014366 T C SNP IL19 ENST00000340758 human ensembl 74_37 +1 known silent c.495 p.C165 0.997 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24 - no_errors IL19 HGNC ENSG00000142224 tier1 - - 58 0 0.00 58 21 26.58 IL6ST 0 genome.wustl.edu 37 5 55265471 55265471 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 55265471 55265471 C T SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.277 p.D93N 0.040 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 tier1 - - 96 0 0.00 57 11 16.18 IRF4 0 genome.wustl.edu 37 6 405041 405041 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 405041 405041 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.1123 p.G375S 0.968 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 - - 48 0 0.00 46 15 24.59 IRX6 0 genome.wustl.edu 37 16 55363013 55363013 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 55363013 55363013 A C SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1123 p.S375R 0.968 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 tier1 - - 71 0 0.00 34 25 42.37 ITGA5 0 genome.wustl.edu 37 12 54799668 54799668 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 54799668 54799668 A C SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.949 p.F317V 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 tier1 - - 80 0 0.00 46 18 28.12 IVL 0 genome.wustl.edu 37 1 152883271 152883271 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 152883271 152883271 T A SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.998 p.L333Q 0.001 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 102 0 0.00 109 31 22.14 JAKMIP1 0 genome.wustl.edu 37 4 6087238 6087238 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 6087238 6087238 A C SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.743 p.V248G 0.998 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 44 0 0.00 21 7 25.00 KAT2B 0 genome.wustl.edu 37 3 20169040 20169040 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 20169040 20169040 A G SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.1748 p.K583R 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 61 0 0.00 46 3 6.12 KCNH1 0 genome.wustl.edu 37 1 210977488 210977488 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 210977488 210977488 A G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1483 p.F495L 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 96 0 0.00 111 18 13.85 KCNMA1 0 genome.wustl.edu 37 10 78771794 78771794 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 78771794 78771794 A C SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2035 p.F679V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 27 0 0.00 26 5 16.13 KCNQ5 0 genome.wustl.edu 37 6 73830211 73830211 + Silent SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 73830211 73830211 T C SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.1131 p.V377 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 16 0 0.00 20 5 20.00 KCNT1 0 genome.wustl.edu 37 9 138656941 138656941 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 9 138656941 138656941 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.1100 p.R367H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 - - 35 0 0.00 33 6 15.38 KIF19 0 genome.wustl.edu 37 17 72349029 72349029 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 72349029 72349029 A C SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.2050 p.K684Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 37 0 0.00 29 11 27.50 KIF19 0 genome.wustl.edu 37 17 72349038 72349038 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 72349038 72349038 A C SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.2059 p.S687R 0.119 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 33 0 0.00 29 11 27.50 KIF1B 0 genome.wustl.edu 37 1 10397523 10397523 + Silent SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 10397523 10397523 T A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.3216 p.T1072 0.951 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 73 0 0.00 49 10 16.95 KIF5C 0 genome.wustl.edu 37 2 149803484 149803485 + Frame_Shift_Ins INS - - C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 149803484 149803485 - C INS KIF5C ENST00000435030 human ensembl 74_37 +1 known frame_shift_ins c.661_662 p.E221fs 1.000:1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 77 0 0.00 50 19 27.54 KLHL41 0 genome.wustl.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 170366496 170366496 A - DEL KLHL41 ENST00000284669 human ensembl 74_37 +1 known frame_shift_del c.208 p.K72fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 tier1 31 0 0.00 28 3 9.68 KRT16P3 0 genome.wustl.edu 37 17 20405866 20405866 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 20405866 20405866 A C SNP KRT16P3 ENST00000580113 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors KRT16P3 HGNC ENSG00000214822 tier1 - - 79 0 0.00 14 18 56.25 KRTAP19-3 0 genome.wustl.edu 37 21 31864263 31864263 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 21 31864263 31864263 C T SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known missense c.13 p.G5S 0.001 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 tier1 - - 115 0 0.00 49 41 45.56 KRTAP4-7 0 genome.wustl.edu 37 17 39240571 39240571 + Missense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 39240571 39240571 C A SNP KRTAP4-7 ENST00000391417 human ensembl 74_37 +1 known missense c.113 p.T38N 0.613 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 tier1 - - 222 0 0.00 184 74 28.68 KSR2 0 genome.wustl.edu 37 12 117993038 117993038 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 117993038 117993038 T G SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1454 p.K485T 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 - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 125 0 0.00 37 77 67.54 L3MBTL4 0 genome.wustl.edu 37 18 6171916 6171916 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 6171916 6171916 T G SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.1007 p.K336T 0.999 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 42 0 0.00 32 10 23.81 LINC00302 0 genome.wustl.edu 37 1 152629124 152629124 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 152629124 152629124 A C SNP LINC00302 ENST00000444515 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00302 HGNC ENSG00000176075 tier1 - - 41 0 0.00 49 8 14.04 LINC00839 0 genome.wustl.edu 37 10 42982519 42982519 + RNA SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 42982519 42982519 A T SNP LINC00839 ENST00000424751 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors LINC00839 HGNC ENSG00000185904 tier1 - - 27 0 0.00 10 8 44.44 LOC100128374 0 genome.wustl.edu 37 7 1887222 1887222 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 1887222 1887222 C T SNP LOC100128374 ENST00000318959 human ensembl 74_37 +1 known missense c.464 p.P155L 0.000 NULL NULL - no_errors AC110781.3 Clone_based_vega_gene ENSG00000176349 tier1 - - 36 0 0.00 46 15 24.59 LOC100130331 0 genome.wustl.edu 37 1 238090970 238090970 + RNA SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 238090970 238090970 T C SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 tier1 - - 21 0 0.00 6 13 68.42 LOC100506060 0 genome.wustl.edu 37 16 70253607 70253607 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 70253607 70253607 C T SNP LOC100506060 ENST00000573141 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 26 0 0.00 13 8 38.10 LOC101929948 0 genome.wustl.edu 37 14 19563638 19563638 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 14 19563638 19563638 A C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 - - 30 0 0.00 30 16 34.78 LOC101930008 0 genome.wustl.edu 37 16 16418617 16418617 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 16418617 16418617 C T SNP LOC101930008 ENST00000536260 human ensembl 74_37 +1 known rna NULL NULL 0.720 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 tier1 - - 59 0 0.00 18 8 30.77 LOC101930181 0 genome.wustl.edu 37 7 76532091 76532091 + RNA SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 76532091 76532091 G A SNP LOC101930181 ENST00000472463 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000231183 tier1 - - 29 0 0.00 21 11 34.38 LOC283693 0 genome.wustl.edu 37 15 83395159 83395159 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 83395159 83395159 C T SNP LOC283693 ENST00000560958 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-752G15.9 Clone_based_vega_gene ENSG00000259315 tier1 - - 100 0 0.00 65 18 21.69 LOC285556 0 genome.wustl.edu 37 4 100575168 100575168 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 100575168 100575168 A C SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.638 p.L213R 0.005 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 35 0 0.00 28 5 15.15 LOC375295 0 genome.wustl.edu 37 2 177502238 177502238 + RNA SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 177502238 177502238 G T SNP LOC375295 ENST00000295549 human ensembl 74_37 -1 known rna NULL NULL 0.307 - - - no_errors AC017048.3 Clone_based_vega_gene ENSG00000163364 tier1 - - 95 0 0.00 74 26 26.00 LOC388942 0 genome.wustl.edu 37 2 42119872 42119872 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 42119872 42119872 C T SNP LOC388942 ENST00000398796 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC104654.1 Clone_based_vega_gene ENSG00000214691 tier1 - - 38 0 0.00 32 9 21.95 LOC441666 0 genome.wustl.edu 37 10 42833305 42833305 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 42833305 42833305 T G SNP LOC441666 ENST00000609034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 121 0 0.00 75 19 20.21 LONP2 0 genome.wustl.edu 37 16 48382140 48382140 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 48382140 48382140 G T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.2276 p.R759L 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 tier1 - - 56 0 0.00 40 4 9.09 LOXHD1 0 genome.wustl.edu 37 18 44122779 44122779 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 44122779 44122779 T G SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.3659 p.K1220T 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 55 0 0.00 23 4 14.81 LPPR5 0 genome.wustl.edu 37 1 99470211 99470211 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 99470211 99470211 G A SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known missense c.17 p.A6V 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 tier1 - - 75 0 0.00 20 29 59.18 LRP12 0 genome.wustl.edu 37 8 105503755 105503755 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 105503755 105503755 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1669 p.E557K 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 12 0 0.00 5 9 64.29 LRP12 0 genome.wustl.edu 37 8 105509626 105509626 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 105509626 105509626 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1097 p.N366T 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 32 0 0.00 29 12 29.27 LRP1B 0 genome.wustl.edu 37 2 141004684 141004684 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 141004684 141004684 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13295 p.K4432R 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 33 0 0.00 21 4 16.00 LRRC31 0 genome.wustl.edu 37 3 169574569 169574569 + Missense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 169574569 169574569 C A SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known missense c.579 p.K193N 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 tier1 - - 34 0 0.00 35 6 14.63 MAGEE2 0 genome.wustl.edu 37 X 75004141 75004141 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 75004141 75004141 A C SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.746 p.F249C 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 23 0 0.00 1 14 93.33 MAP2 0 genome.wustl.edu 37 2 210574896 210574896 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 210574896 210574896 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4991 p.N1664T 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 21 0 0.00 9 8 47.06 MARCH1 0 genome.wustl.edu 37 4 164533668 164533668 + Missense_Mutation SNP C C G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 164533668 164533668 C G SNP MARCH1 ENST00000514618 human ensembl 74_37 -1 novel missense c.765 p.K255N 0.008 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 - - 44 0 0.00 23 13 36.11 MARCH1 0 genome.wustl.edu 37 4 164534102 164534102 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 164534102 164534102 T G SNP MARCH1 ENST00000514618 human ensembl 74_37 -1 novel missense c.331 p.K111Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 - - 13 0 0.00 14 4 22.22 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 81680656 81680656 A G SNP MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 56 0 0.00 44 39 45.35 MEG3 0 genome.wustl.edu 37 14 101302245 101302245 + RNA SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 14 101302245 101302245 T A SNP MEG3 ENST00000455531 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 32 0 0.00 16 14 46.67 MIR892A 0 genome.wustl.edu 37 X 145078203 145078203 + RNA SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 145078203 145078203 A G SNP MIR892A ENST00000401124 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR892A HGNC ENSG00000215943 tier1 - - 26 0 0.00 17 35 67.31 MRPL28 0 genome.wustl.edu 37 16 418610 418610 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 418610 418610 T G SNP MRPL28 ENST00000199706 human ensembl 74_37 -1 known missense c.467 p.K156T 1.000 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 tier1 - - 110 0 0.00 69 30 30.30 MSS51 0 genome.wustl.edu 37 10 75185808 75185808 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 75185808 75185808 A C SNP MSS51 ENST00000299432 human ensembl 74_37 -1 known missense c.830 p.L277R 0.925 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 tier1 - - 40 0 0.00 7 10 58.82 MUC12 0 genome.wustl.edu 37 7 100635349 100635349 + Nonsense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 100635349 100635349 C A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known nonsense c.1505 p.S502* 0.063 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 93 0 0.00 158 26 14.13 MUC16 0 genome.wustl.edu 37 19 9059054 9059054 + Silent SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 9059054 9059054 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.28392 p.T9464 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 84 0 0.00 87 8 8.42 MUC16 0 genome.wustl.edu 37 19 9085711 9085711 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 9085711 9085711 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.6104 p.L2035R 0.036 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 85 0 0.00 63 15 19.23 MUC16 0 genome.wustl.edu 37 19 9086530 9086530 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 9086530 9086530 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5285 p.F1762C 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 36 0 0.00 49 7 12.50 MUC4 0 genome.wustl.edu 37 3 195506521 195506521 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 195506521 195506521 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11930 p.A3977V 0.013 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs199874579 - 18 0 0.00 16 5 23.81 MUC7 0 genome.wustl.edu 37 4 71347210 71347210 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 71347210 71347210 C T SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.749 p.S250F 0.082 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 tier1 - - 102 0 0.00 34 66 66.00 MYT1 0 genome.wustl.edu 37 20 62837012 62837012 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 62837012 62837012 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.256 p.G86S 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 51 0 0.00 45 27 37.50 NAA11 0 genome.wustl.edu 37 4 80246448 80246448 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 80246448 80246448 T G SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known missense c.584 p.K195T 0.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 tier1 - - 56 0 0.00 22 38 63.33 NALCN 0 genome.wustl.edu 37 13 101833582 101833582 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 101833582 101833582 A C SNP NALCN ENST00000376196 human ensembl 74_37 -1 known missense c.1871 p.L624R 0.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 104 0 0.00 74 8 9.76 NAV3 0 genome.wustl.edu 37 12 78444899 78444899 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 78444899 78444899 A C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2488 p.S830R 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 69 0 0.00 30 73 70.87 NKX2-5 0 genome.wustl.edu 37 5 172659657 172659657 + Missense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 172659657 172659657 A T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known missense c.890 p.V297D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 tier1 - - 41 0 0.00 28 9 24.32 NLRP14 0 genome.wustl.edu 37 11 7064119 7064119 + Missense_Mutation SNP C C G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 7064119 7064119 C G SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.862 p.L288V 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 56 0 0.00 41 10 19.61 NLRP5 0 genome.wustl.edu 37 19 56539475 56539475 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 56539475 56539475 T G SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.1876 p.F626V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 50 0 0.00 35 5 12.50 NNT 0 genome.wustl.edu 37 5 43653170 43653170 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 43653170 43653170 C T SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.1914 p.L638 0.972 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 tier1 - - 69 0 0.00 288 41 12.46 NOL4 0 genome.wustl.edu 37 18 31537451 31537451 + Missense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 31537451 31537451 A T SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1267 p.L423M 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 47 0 0.00 22 30 57.69 NOX4 0 genome.wustl.edu 37 11 89060012 89060012 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 89060012 89060012 T A SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.1712 p.N571I 0.440 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 48 0 0.00 32 4 11.11 NPIPB1P 0 genome.wustl.edu 37 18 11625664 11625664 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 11625664 11625664 T G SNP NPIPB1P ENST00000547442 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors NPIPB1P HGNC ENSG00000257513 tier1 - - 286 0 0.00 335 97 22.45 NR2C2 0 genome.wustl.edu 37 3 15073950 15073950 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 15073950 15073950 G A SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.1232 p.R411H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 tier1 - - 93 0 0.00 77 31 28.70 NRG1 0 genome.wustl.edu 37 8 32621602 32621602 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 32621602 32621602 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1629 p.Q543 0.740 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 44 0 0.00 46 8 14.81 NRG1 0 genome.wustl.edu 37 8 32621613 32621613 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 32621613 32621613 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1640 p.K547R 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 45 0 0.00 43 9 17.31 NRG3 0 genome.wustl.edu 37 10 84745121 84745121 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 84745121 84745121 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.1923 p.S641 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 27 0 0.00 18 2 10.00 NTRK1 0 genome.wustl.edu 37 1 156843699 156843699 + Nonsense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 156843699 156843699 G A SNP NTRK1 ENST00000497019 human ensembl 74_37 +1 known nonsense c.902 p.W301* 0.617 NULL smart_Cys-rich_flank_reg_C - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 53 0 0.00 17 50 74.63 NTRK3 0 genome.wustl.edu 37 15 88522553 88522553 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 88522553 88522553 A C SNP NTRK3 ENST00000558306 human ensembl 74_37 -1 putative rna NULL NULL 0.996 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 40 0 0.00 32 12 27.27 OPRK1 0 genome.wustl.edu 37 8 54147611 54147611 + Silent SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 54147611 54147611 A C SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.318 p.A106 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 tier1 - - 31 0 0.00 44 6 12.00 OR10J1 0 genome.wustl.edu 37 1 159410360 159410360 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 159410360 159410360 A C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.812 p.K271T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 75 0 0.00 37 51 57.95 OR10J1 0 genome.wustl.edu 37 1 159410501 159410501 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 159410501 159410501 A C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.953 p.K318T 0.034 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 69 0 0.00 79 30 27.52 OR10J5 0 genome.wustl.edu 37 1 159505746 159505746 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 159505746 159505746 A G SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.52 p.S18P 0.935 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 19 0 0.00 16 3 15.79 OR10R2 0 genome.wustl.edu 37 1 158450533 158450533 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 158450533 158450533 A C SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.866 p.N289T 0.166 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 tier1 - - 81 0 0.00 33 76 69.72 OR2C3 0 genome.wustl.edu 37 1 247695585 247695585 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 247695585 247695585 T C SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.229 p.S77G 0.030 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 tier1 - - 69 0 0.00 73 28 27.72 OR2J1 0 genome.wustl.edu 37 6 29069413 29069413 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 29069413 29069413 A C SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.694 p.T232P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 133 0 0.00 136 24 15.00 OR2L8 0 genome.wustl.edu 37 1 248112220 248112220 + Silent SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 248112220 248112220 A C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known silent c.61 p.R21 0.074 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 tier1 - - 187 0 0.00 130 38 22.62 OR2M7 0 genome.wustl.edu 37 1 248487287 248487287 + Missense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 248487287 248487287 A T SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.584 p.F195Y 0.002 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 OR2M7 HGNC ENSG00000177186 tier1 - - 155 0 0.00 169 23 11.98 OR4C15 0 genome.wustl.edu 37 11 55322161 55322161 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 55322161 55322161 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.379 p.S127P 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 89 0 0.00 80 27 25.23 OR4D5 0 genome.wustl.edu 37 11 123810724 123810724 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 123810724 123810724 T G SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.401 p.L134R 0.328 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 55 0 0.00 59 11 15.71 OR51A7 0 genome.wustl.edu 37 11 4929263 4929263 + Nonsense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 4929263 4929263 A T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known nonsense c.664 p.K222* 0.831 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 94 0 0.00 59 25 29.07 OR51E2 0 genome.wustl.edu 37 11 4703860 4703860 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 4703860 4703860 A C SNP OR51E2 ENST00000396950 human ensembl 74_37 -1 known missense c.82 p.F28V 0.829 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 tier1 - - 24 0 0.00 26 10 27.78 OR51I1 0 genome.wustl.edu 37 11 5461803 5461803 + Silent SNP G G C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 5461803 5461803 G C SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known silent c.942 p.A314 0.090 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 tier1 - - 65 0 0.00 53 9 14.52 OR52N1 0 genome.wustl.edu 37 11 5809914 5809914 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 5809914 5809914 A C SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.133 p.F45V 0.442 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 - no_errors OR52N1 HGNC ENSG00000181001 tier1 - - 51 0 0.00 42 6 12.50 OR5H1 0 genome.wustl.edu 37 3 97851669 97851669 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 97851669 97851669 T G SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.128 p.L43R 0.888 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 tier1 - - 100 0 0.00 87 15 14.71 OR5H6 0 genome.wustl.edu 37 3 97983369 97983369 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 97983369 97983369 A G SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known missense c.241 p.S81G 0.100 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 tier1 rs113781156 - 154 0 0.00 124 15 10.71 OR5L1 0 genome.wustl.edu 37 11 55579353 55579353 + Silent SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 55579353 55579353 T G SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.411 p.S137 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 95 0 0.00 72 28 28.00 OR5T2 0 genome.wustl.edu 37 11 55999981 55999981 + Silent SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 55999981 55999981 A C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.681 p.S227 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 93 0 0.00 37 36 49.32 OR6K6 0 genome.wustl.edu 37 1 158725609 158725609 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 158725609 158725609 A G SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.1004 p.Q335R 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 - - 38 0 0.00 28 5 15.15 OR8D2 0 genome.wustl.edu 37 11 124189450 124189450 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 124189450 124189450 A C SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.644 p.L215R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 tier1 - - 38 0 0.00 28 6 17.65 OR8D2 0 genome.wustl.edu 37 11 124189480 124189480 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 124189480 124189480 A C SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.614 p.V205G 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 tier1 - - 37 0 0.00 31 10 24.39 OR8D2 0 genome.wustl.edu 37 11 124190008 124190008 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 124190008 124190008 A G SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.86 p.L29P 0.027 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 tier1 - - 52 0 0.00 41 25 37.88 OR9G1 0 genome.wustl.edu 37 11 56468458 56468458 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 56468458 56468458 T C SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.595 p.Y199H 0.273 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 tier1 - - 149 0 0.00 97 21 17.80 PARPBP 0 genome.wustl.edu 37 12 102590397 102590397 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 102590397 102590397 T G SNP PARPBP ENST00000535811 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors PARPBP HGNC ENSG00000185480 tier1 - - 39 0 0.00 13 27 67.50 PCDH19 0 genome.wustl.edu 37 X 99663101 99663101 + Silent SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 99663101 99663101 A C SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.495 p.T165 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 18 0 0.00 14 15 51.72 PCDH20 0 genome.wustl.edu 37 13 61987441 61987441 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 61987441 61987441 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.791 p.E264G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 46 0 0.00 60 9 13.04 PCDHA13 0 genome.wustl.edu 37 5 140263526 140263526 + Missense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 140263526 140263526 A T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1673 p.E558V 0.999 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 140 0 0.00 47 27 36.49 PCDHA3 0 genome.wustl.edu 37 5 140182594 140182594 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 140182594 140182594 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1812 p.N604 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 193 0 0.00 107 59 35.54 PCDHB12 0 genome.wustl.edu 37 5 140589472 140589472 + Silent SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 140589472 140589472 T C SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.993 p.S331 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 36 0 0.00 24 6 20.00 PCDHB18 0 genome.wustl.edu 37 5 140615402 140615402 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 140615402 140615402 T G SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors PCDHB18 HGNC ENSG00000146001 tier1 - - 107 0 0.00 92 15 13.89 PCLO 0 genome.wustl.edu 37 7 82545548 82545548 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 82545548 82545548 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11754 p.Q3918H 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 153 0 0.00 175 58 24.89 PCLO 0 genome.wustl.edu 37 7 82585782 82585782 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 82585782 82585782 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4487 p.K1496T 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 59 0 0.00 94 8 7.84 PEG3 0 genome.wustl.edu 37 19 57325574 57325574 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 57325574 57325574 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4236 p.E1412D 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 76 0 0.00 64 16 20.00 PEG3 0 genome.wustl.edu 37 19 57325616 57325616 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 57325616 57325616 T A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4194 p.E1398D 0.010 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 62 0 0.00 56 21 27.27 PET112 0 genome.wustl.edu 37 4 152601042 152601042 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 152601042 152601042 G T SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.1333 p.P445T 1.000 pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 tier1 - - 43 0 0.00 26 22 45.83 PGAP1 0 genome.wustl.edu 37 2 197705997 197705997 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 197705997 197705997 G T SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.2730 p.F910L 0.998 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 36 0 0.00 34 2 5.56 PIKFYVE 0 genome.wustl.edu 37 2 209212734 209212734 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 209212734 209212734 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.5361 p.G1787 0.748 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 36 0 0.00 43 12 21.82 PLCG1 0 genome.wustl.edu 37 20 39802094 39802094 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 39802094 39802094 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.3314 p.R1105Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 tier1 - - 91 0 0.00 78 71 47.65 PLCXD3 0 genome.wustl.edu 37 5 41382172 41382172 + Missense_Mutation SNP G G C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 41382172 41382172 G C SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.568 p.Q190E 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 tier1 - - 41 0 0.00 205 23 10.04 PLEKHA6 0 genome.wustl.edu 37 1 204214812 204214812 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 204214812 204214812 T A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.1963 p.I655F 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 - - 67 0 0.00 65 6 8.45 PLG 0 genome.wustl.edu 37 6 161134281 161134281 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 161134281 161134281 A C SNP PLG ENST00000462918 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLG HGNC ENSG00000122194 tier1 - - 32 0 0.00 17 8 32.00 PLG 0 genome.wustl.edu 37 6 161173176 161173176 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 161173176 161173176 G T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.2155 p.A719S 0.992 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 tier1 - - 70 0 0.00 54 25 31.65 POLE 0 genome.wustl.edu 37 12 133257759 133257759 + Missense_Mutation SNP C C G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 133257759 133257759 C G SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.169 p.G57R 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 40 0 0.00 32 11 25.58 POTEC 0 genome.wustl.edu 37 18 14537832 14537832 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 14537832 14537832 A G SNP POTEC ENST00000358970 human ensembl 74_37 -1 known silent c.778 p.L260 0.041 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 235 0 0.00 243 61 20.07 POU6F1 0 genome.wustl.edu 37 12 51589790 51589790 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 51589790 51589790 C T SNP POU6F1 ENST00000333640 human ensembl 74_37 -1 known missense c.212 p.R71Q 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 23 0 0.00 23 6 20.69 PRAMEF17 0 genome.wustl.edu 37 1 13717112 13717112 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 13717112 13717112 A C SNP PRAMEF17 ENST00000376098 human ensembl 74_37 +1 known missense c.599 p.K200T 0.000 NULL NULL - no_errors PRAMEF17 HGNC ENSG00000204479 tier1 - - 36 0 0.00 21 10 32.26 PREX2 0 genome.wustl.edu 37 8 69020466 69020466 + Silent SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 69020466 69020466 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.2838 p.S946 0.991 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 107 0 0.00 88 34 27.87 PRRX1 0 genome.wustl.edu 37 1 170705354 170705354 + RNA SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 170705354 170705354 A G SNP PRRX1 ENST00000476867 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRRX1 HGNC ENSG00000116132 tier1 - - 36 0 0.00 25 6 19.35 PTPRB 0 genome.wustl.edu 37 12 70965008 70965008 + Silent SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 70965008 70965008 A T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.3168 p.T1056 0.094 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 27 0 0.00 12 13 52.00 PTPRZ1 0 genome.wustl.edu 37 7 121651971 121651971 + Silent SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 121651971 121651971 T G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.2871 p.T957 0.693 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 66 0 0.00 60 10 14.29 PVR 0 genome.wustl.edu 37 19 45162124 45162124 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 45162124 45162124 A G SNP PVR ENST00000425690 human ensembl 74_37 +1 known missense c.1106 p.K369R 0.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVR HGNC ENSG00000073008 tier1 rs149458939 - 69 0 0.00 46 19 29.23 PXDNL 0 genome.wustl.edu 37 8 52233397 52233397 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 52233397 52233397 T C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.4207 p.R1403G 0.012 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 57 0 0.00 24 29 54.72 RALGAPB 0 genome.wustl.edu 37 20 37121752 37121752 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 37121752 37121752 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known silent c.366 p.H122 0.998 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 51 0 0.00 61 25 29.07 RB1CC1 0 genome.wustl.edu 37 8 53568895 53568895 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 53568895 53568895 G T SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.3494 p.A1165E 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 41 0 0.00 49 3 5.77 RBMXL3 0 genome.wustl.edu 37 X 114424314 114424314 + Missense_Mutation SNP C C A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 114424314 114424314 C A SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.310 p.R104S 0.035 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 8 0 0.00 2 2 50.00 RBMY1F 0 genome.wustl.edu 37 Y 24327013 24327013 + Nonsense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b Y 24327013 24327013 G T SNP RBMY1F ENST00000303766 human ensembl 74_37 -1 known nonsense c.104 p.S35* 0.322 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RBM1CTR,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMY1F HGNC ENSG00000169800 tier1 - - 31 0 0.00 18 4 18.18 RELN 0 genome.wustl.edu 37 7 103322622 103322622 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 103322622 103322622 A G SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.1230 p.D410 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 37 0 0.00 64 13 16.88 RET 0 genome.wustl.edu 37 10 43608346 43608346 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 43608346 43608346 G T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.1694 p.C565F 1.000 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 44 0 0.00 50 6 10.71 RFX5 0 genome.wustl.edu 37 1 151316714 151316714 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 151316714 151316714 T C SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.514 p.M172V 0.998 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 tier1 - - 35 0 0.00 15 27 64.29 RFX6 0 genome.wustl.edu 37 6 117240321 117240321 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 117240321 117240321 T G SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1044 p.N348K 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 65 0 0.00 44 6 12.00 RGS7BP 0 genome.wustl.edu 37 5 63802430 63802430 + RNA SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 63802430 63802430 T C SNP RGS7BP ENST00000508162 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors RGS7BP HGNC ENSG00000186479 tier1 - - 21 0 0.00 16 8 33.33 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 104898096 104898096 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 27 0 0.00 23 6 20.69 RIMS2 0 genome.wustl.edu 37 8 104924382 104924382 + Silent SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 104924382 104924382 A T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1794 p.G598 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 28 0 0.00 34 6 15.00 RN7SL860P 0 genome.wustl.edu 37 19 22784354 22784354 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 22784354 22784354 A C SNP RN7SL860P ENST00000473738 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors RN7SL860P HGNC ENSG00000240713 tier1 - - 32 0 0.00 31 15 32.61 RNF17 0 genome.wustl.edu 37 13 25348977 25348977 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 13 25348977 25348977 A C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.252 p.Q84H 0.818 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 54 0 0.00 63 14 18.18 RPLP0P2 0 genome.wustl.edu 37 11 61405192 61405192 + RNA SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 61405192 61405192 G A SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.196 - - - no_errors RPLP0P2 HGNC ENSG00000243742 34 0 0.00 27 5 15.62 RPS4XP5 0 genome.wustl.edu 37 2 63870743 63870743 + RNA SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 63870743 63870743 G T SNP RPS4XP5 ENST00000449995 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPS4XP5 HGNC ENSG00000229920 tier1 - - 21 0 0.00 16 8 33.33 RYR3 0 genome.wustl.edu 37 15 33922237 33922237 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 33922237 33922237 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2776 p.T926P 1.000 pfam_Ryanodine_rcpt pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 34 0 0.00 14 15 51.72 SALL1 0 genome.wustl.edu 37 16 51174296 51174296 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 16 51174296 51174296 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1837 p.E613K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 16 0 0.00 11 15 57.69 SCAMP3 0 genome.wustl.edu 37 1 155227351 155227351 + Nonsense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 155227351 155227351 C T SNP SCAMP3 ENST00000302631 human ensembl 74_37 -1 known nonsense c.615 p.W205* 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 tier1 - - 55 0 0.00 19 36 65.45 SCAND3 0 genome.wustl.edu 37 6 28541180 28541180 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 28541180 28541180 G A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.2486 p.P829L 0.905 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 rs142639079 - 68 0 0.00 43 22 33.85 SCG3 0 genome.wustl.edu 37 15 51975284 51975284 + Silent SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 51975284 51975284 A G SNP SCG3 ENST00000220478 human ensembl 74_37 +1 known silent c.144 p.E48 1.000 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 tier1 - - 50 0 0.00 20 28 58.33 SCIN 0 genome.wustl.edu 37 7 12668813 12668813 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 12668813 12668813 T G SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1285 p.Y429D 0.998 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 tier1 - - 26 0 0.00 25 22 46.81 SCN7A 0 genome.wustl.edu 37 2 167327161 167327161 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 167327161 167327161 T G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.628 p.T210P 0.763 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 46 0 0.00 48 9 15.79 SCN9A 0 genome.wustl.edu 37 2 167085273 167085273 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 167085273 167085273 T G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.4137 p.Q1379H 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 59 0 0.00 59 12 16.90 SDR16C6P 0 genome.wustl.edu 37 8 57287365 57287365 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 57287365 57287365 C T SNP SDR16C6P ENST00000517787 human ensembl 74_37 -1 known rna NULL NULL 0.874 - - - no_errors SDR16C6P HGNC ENSG00000253542 tier1 - - 55 0 0.00 26 25 49.02 SEC31B 0 genome.wustl.edu 37 10 102255158 102255158 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 102255158 102255158 G T SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2456 p.S819Y 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 35 0 0.00 36 3 7.69 SEH1L 0 genome.wustl.edu 37 18 12955489 12955489 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 12955489 12955489 A C SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.190 p.T64P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 tier1 - - 61 0 0.00 51 41 44.57 SEMA3F 0 genome.wustl.edu 37 3 50220414 50220414 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 50220414 50220414 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known silent c.981 p.P327 0.043 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 tier1 - - 62 0 0.00 30 11 26.83 SERPINB6 0 genome.wustl.edu 37 6 2948893 2948893 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 2948893 2948893 G A SNP SERPINB6 ENST00000335686 human ensembl 74_37 -1 known missense c.770 p.T257M 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 tier1 - - 61 0 0.00 42 20 32.26 SETBP1 0 genome.wustl.edu 37 18 42618501 42618501 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 18 42618501 42618501 A C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4052 p.N1351T 0.985 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 73 0 0.00 34 18 34.62 SFI1 0 genome.wustl.edu 37 22 32009640 32009641 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 22 32009640 32009641 AG - DEL SFI1 ENST00000400288 human ensembl 74_37 +1 known frame_shift_del c.2795_2796 p.K933fs 1.000:1.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 157 0 0.00 54 49 47.57 SGCD 0 genome.wustl.edu 37 5 155771519 155771519 + Silent SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 155771519 155771519 T A SNP SGCD ENST00000337851 human ensembl 74_37 +1 known silent c.24 p.T8 0.803 NULL pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 tier1 - - 98 0 0.00 71 10 12.35 SGCD 0 genome.wustl.edu 37 5 156016259 156016259 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 156016259 156016259 A C SNP SGCD ENST00000337851 human ensembl 74_37 +1 known missense c.313 p.K105Q 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 tier1 - - 62 0 0.00 58 13 18.31 SHFM1 0 genome.wustl.edu 37 7 96113146 96113146 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 96113146 96113146 T G SNP SHFM1 ENST00000493858 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SHFM1 HGNC ENSG00000127922 tier1 - - 51 0 0.00 67 19 22.09 SI 0 genome.wustl.edu 37 3 164710181 164710181 + Missense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 164710181 164710181 A T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4846 p.F1616I 0.290 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 32 0 0.00 26 10 27.78 SLC22A18 0 genome.wustl.edu 37 11 2924611 2924611 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 2924611 2924611 G A SNP SLC22A18 ENST00000312221 human ensembl 74_37 +1 known silent c.36 p.R12 0.002 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC22A18 HGNC ENSG00000110628 tier1 - - 39 0 0.00 42 19 31.15 SLC25A26 0 genome.wustl.edu 37 3 66419918 66419918 + Silent SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 66419918 66419918 A C SNP SLC25A26 ENST00000354883 human ensembl 74_37 +1 known silent c.585 p.A195 0.053 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 tier1 - - 70 0 0.00 22 15 40.54 SLC25A3P1 0 genome.wustl.edu 37 1 53905508 53905508 + RNA SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 53905508 53905508 T A SNP SLC25A3P1 ENST00000563752 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 16 0 0.00 25 8 24.24 SLC26A3 0 genome.wustl.edu 37 7 107423731 107423731 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 107423731 107423731 G A SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known silent c.1038 p.I346 0.999 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 43 0 0.00 45 3 6.25 SLC30A8 0 genome.wustl.edu 37 8 118174052 118174052 + Silent SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 118174052 118174052 T C SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known silent c.648 p.A216 0.902 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 tier1 - - 92 0 0.00 103 16 13.45 SLC4A2 0 genome.wustl.edu 37 7 150767861 150767861 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 150767861 150767861 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.1612 p.R538W 0.992 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 rs146252856 - 85 0 0.00 52 26 33.33 SLC6A17 0 genome.wustl.edu 37 1 110740222 110740222 + Splice_Site SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 110740222 110740222 G A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known splice_site c.1815+1 e10+1 1.000 - - - no_errors SLC6A17 HGNC ENSG00000197106 tier1 - - 36 0 0.00 11 21 65.62 SLC6A19 0 genome.wustl.edu 37 5 1201910 1201911 + In_Frame_Ins INS - - GAA TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 1201910 1201911 - GAA INS SLC6A19 ENST00000304460 human ensembl 74_37 +1 known in_frame_ins c.145_146 p.CVGL49in_frame_ins* 1.000:1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 tier1 100 0 0.00 82 51 38.35 SLC9A2 0 genome.wustl.edu 37 2 103321003 103321003 + Missense_Mutation SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 103321003 103321003 A T SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.1846 p.T616S 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 tier1 - - 23 0 0.00 10 10 50.00 SLIT3 0 genome.wustl.edu 37 5 168098212 168098212 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 168098212 168098212 A G SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.4118 p.L1373P 0.992 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 63 0 0.00 58 5 7.94 SNAP25 0 genome.wustl.edu 37 20 10287451 10287452 + RNA DEL AC AC - TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 10287451 10287452 AC - DEL SNAP25 ENST00000495883 human ensembl 74_37 +1 known rna NULL NULL 0.884:0.856 - - - no_errors SNAP25 HGNC ENSG00000132639 tier1 38 0 0.00 46 5 9.80 SNORD3A 0 genome.wustl.edu 37 17 19091431 19091431 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 19091431 19091431 C T SNP SNORD3A ENST00000365494 human ensembl 74_37 +1 known rna NULL NULL 0.785 - - - no_errors SNORD3A HGNC ENSG00000263934 tier1 - - 335 0 0.00 219 30 12.05 SNTG2 0 genome.wustl.edu 37 2 1271190 1271190 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 1271190 1271190 A C SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1131 p.Q377H 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 86 0 0.00 47 27 36.49 SNTG2 0 genome.wustl.edu 37 2 1371290 1371290 + RNA SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 1371290 1371290 A G SNP SNTG2 ENST00000472606 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 46 0 0.00 35 6 14.63 SORCS3 0 genome.wustl.edu 37 10 106982910 106982910 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 106982910 106982910 T G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2771 p.V924G 1.000 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 67 0 0.00 47 9 16.07 SRSF5 0 genome.wustl.edu 37 14 70235812 70235812 + RNA SNP A A T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 14 70235812 70235812 A T SNP SRSF5 ENST00000556587 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SRSF5 HGNC ENSG00000100650 tier1 - - 15 0 0.00 18 5 21.74 SSBP3 0 genome.wustl.edu 37 1 54692681 54692682 + RNA INS - - G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 54692681 54692682 - G INS SSBP3 ENST00000326956 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.019 - - - no_errors SSBP3 HGNC ENSG00000157216 tier1 9 0 0.00 4 2 33.33 STK32B 0 genome.wustl.edu 37 4 5468497 5468497 + Missense_Mutation SNP A A G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 4 5468497 5468497 A G SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.977 p.H326R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 tier1 - - 23 0 0.00 20 5 20.00 SYNE1 0 genome.wustl.edu 37 6 152470788 152470788 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 152470788 152470788 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24466 p.I8156L 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 77 0 0.00 69 25 26.60 SYNE1 0 genome.wustl.edu 37 6 152683425 152683425 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 152683425 152683425 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10179 p.S3393R 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 31 0 0.00 37 4 9.76 SYNE1 0 genome.wustl.edu 37 6 152774796 152774796 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 152774796 152774796 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2952 p.E984D 0.987 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 64 0 0.00 43 17 27.87 SYNE1 0 genome.wustl.edu 37 6 152831487 152831487 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 152831487 152831487 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.422 p.N141T 1.000 superfamily_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 62 0 0.00 57 7 10.94 SYT16 0 genome.wustl.edu 37 14 62550917 62550917 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 14 62550917 62550917 G A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1438 p.G480R 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 44 0 0.00 36 2 5.26 TECTA 0 genome.wustl.edu 37 11 121028665 121028665 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 121028665 121028665 A C SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4421 p.N1474T 0.300 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 18 0 0.00 26 10 27.78 TESPA1 0 genome.wustl.edu 37 12 55356740 55356740 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 55356740 55356740 T G SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.942 p.Q314H 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 81 0 0.00 73 30 29.13 TEX9 0 genome.wustl.edu 37 15 56686979 56686979 + Nonsense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 56686979 56686979 G T SNP TEX9 ENST00000352903 human ensembl 74_37 +1 known nonsense c.775 p.E259* 1.000 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 tier1 - - 31 0 0.00 15 10 40.00 TFEC 0 genome.wustl.edu 37 7 115580835 115580835 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 115580835 115580835 T C SNP TFEC ENST00000265440 human ensembl 74_37 -1 known missense c.814 p.S272G 0.004 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 tier1 - - 54 0 0.00 62 12 16.22 TFPI2 0 genome.wustl.edu 37 7 93519623 93519623 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 93519623 93519623 C T SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.97 p.A33T 0.000 pirsf_Prot_inhib_I2_TFPI,superfamily_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 tier1 - - 52 0 0.00 55 15 21.43 TGFB3 0 genome.wustl.edu 37 14 76431997 76431997 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 14 76431997 76431997 G T SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.688 p.H230N 1.000 pirsf_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 tier1 - - 51 0 0.00 61 4 6.15 TIMD4 0 genome.wustl.edu 37 5 156390172 156390172 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 5 156390172 156390172 T G SNP TIMD4 ENST00000274532 human ensembl 74_37 -1 known missense c.38 p.E13A 0.002 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 tier1 - - 51 0 0.00 41 16 28.07 TMEM200A 0 genome.wustl.edu 37 6 130762765 130762765 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 6 130762765 130762765 T G SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.1198 p.L400V 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 tier1 - - 21 0 0.00 22 11 33.33 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs11540652 - 77 0 0.00 31 30 49.18 TPTE 0 genome.wustl.edu 37 21 10908859 10908859 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 21 10908859 10908859 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1486 p.F496V 0.999 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 181 0 0.00 104 20 16.13 TRIM49 0 genome.wustl.edu 37 11 89531678 89531678 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 89531678 89531678 T G SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.979 p.S327R 0.000 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 124 0 0.00 139 11 7.33 TRIM49B 0 genome.wustl.edu 37 11 49055825 49055825 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 49055825 49055825 T C SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.635 p.L212P 0.013 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 336 0 0.00 290 44 13.17 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 tier1 - - 55 0 0.00 45 19 29.69 TRIM64C 0 genome.wustl.edu 37 11 49075336 49075336 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 49075336 49075336 A C SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known missense c.1274 p.L425R 0.426 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 152 0 0.00 94 37 28.24 TTC28 0 genome.wustl.edu 37 22 28503055 28503055 + Silent SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 22 28503055 28503055 T C SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel silent c.2778 p.G926 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 27 0 0.00 9 16 64.00 TTC3 0 genome.wustl.edu 37 21 38537881 38537881 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 21 38537881 38537881 G T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.3365 p.G1122V 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 48 0 0.00 35 4 10.26 TTN 0 genome.wustl.edu 37 2 179457000 179457000 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 179457000 179457000 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51927 p.K17309N 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-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 - - 21 0 0.00 20 4 16.67 TTN 0 genome.wustl.edu 37 2 179459328 179459328 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 179459328 179459328 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50189 p.K16730T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 36 0 0.00 36 9 20.00 TTN 0 genome.wustl.edu 37 2 179586627 179586627 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 179586627 179586627 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19031 p.Q6344L 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 33 0 0.00 29 18 38.30 TTN 0 genome.wustl.edu 37 2 179623798 179623798 + Missense_Mutation SNP C C G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 179623798 179623798 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10216 p.A3406P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 49 0 0.00 39 18 31.58 TTPA 0 genome.wustl.edu 37 8 63976810 63976810 + Silent SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 8 63976810 63976810 G T SNP TTPA ENST00000260116 human ensembl 74_37 -1 known silent c.618 p.V206 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 tier1 - - 43 0 0.00 36 6 14.29 TXNRD3NB 0 genome.wustl.edu 37 3 126291232 126291232 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 126291232 126291232 T C SNP TXNRD3NB ENST00000383572 human ensembl 74_37 -1 known missense c.155 p.K52R 0.003 NULL NULL - no_errors TXNRD3NB HGNC ENSG00000206483 tier1 - - 32 0 0.00 43 8 15.69 UBE2V1 0 genome.wustl.edu 37 20 48698186 48698186 + RNA SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 20 48698186 48698186 C T SNP UBE2V1 ENST00000396059 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors UBE2V1 HGNC ENSG00000244687 tier1 - - 9 0 0.00 6 7 53.85 UBQLNL 0 genome.wustl.edu 37 11 5537319 5537319 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 5537319 5537319 G A SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.353 p.T118M 0.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 26 0 0.00 34 13 27.66 UHRF1BP1L 0 genome.wustl.edu 37 12 100452004 100452004 + Silent SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 100452004 100452004 C T SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known silent c.3051 p.S1017 0.001 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 53 0 0.00 24 18 42.86 UNC13C 0 genome.wustl.edu 37 15 54860049 54860049 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 54860049 54860049 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6010 p.S2004R 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 56 0 0.00 22 19 46.34 UPF1 0 genome.wustl.edu 37 19 18972934 18972934 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 18972934 18972934 G T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.2606 p.R869L 1.000 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 33 0 0.00 36 3 7.69 USH2A 0 genome.wustl.edu 37 1 216251460 216251460 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 1 216251460 216251460 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5543 p.N1848T 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 48 0 0.00 48 12 19.67 VAX1 0 genome.wustl.edu 37 10 118896157 118896157 + Silent SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 118896157 118896157 G T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known silent c.255 p.S85 0.999 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 106 0 0.00 60 37 38.14 VIM 0 genome.wustl.edu 37 10 17277328 17277328 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 10 17277328 17277328 A C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1169 p.K390T 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 tier1 - - 49 0 0.00 28 8 22.22 VN1R4 0 genome.wustl.edu 37 19 53770563 53770563 + Missense_Mutation SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 53770563 53770563 A C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.356 p.L119R 0.153 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 tier1 - - 274 0 0.00 215 60 21.82 WIF1 0 genome.wustl.edu 37 12 65445161 65445161 + Missense_Mutation SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 12 65445161 65445161 G A SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known missense c.1108 p.R370W 0.893 NULL pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 18 0 0.00 21 4 16.00 WNK3 0 genome.wustl.edu 37 X 54259372 54259372 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b X 54259372 54259372 T A SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4710 p.K1570N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 tier1 - - 40 0 0.00 24 38 61.29 XIRP2 0 genome.wustl.edu 37 2 168100949 168100949 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 168100949 168100949 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3047 p.S1016I 0.971 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 27 0 0.00 38 3 7.32 ZBTB16 0 genome.wustl.edu 37 11 114112974 114112974 + Silent SNP G G A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 11 114112974 114112974 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known silent c.1539 p.A513 0.850 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 22 0 0.00 14 5 26.32 ZIC4 0 genome.wustl.edu 37 3 147105640 147105640 + RNA SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 3 147105640 147105640 T G SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 9 0 0.00 1 4 80.00 ZNF208 0 genome.wustl.edu 37 19 22157155 22157155 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 22157155 22157155 T A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.681 p.K227N 0.030 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 ZNF208 HGNC ENSG00000160321 tier1 - - 37 0 0.00 36 15 29.41 ZNF296 0 genome.wustl.edu 37 19 45575374 45575374 + Missense_Mutation SNP C C G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 45575374 45575374 C G SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.913 p.E305Q 0.851 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 tier1 - - 31 0 0.00 21 7 25.00 ZNF385B 0 genome.wustl.edu 37 2 180308086 180308086 + Missense_Mutation SNP C C T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 2 180308086 180308086 C T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.1307 p.R436Q 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 108 0 0.00 85 40 32.00 ZNF43 0 genome.wustl.edu 37 19 21991811 21991811 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 21991811 21991811 G T SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1028 p.T343K 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 ZNF43 HGNC ENSG00000198521 54 0 0.00 47 3 6.00 ZNF536 0 genome.wustl.edu 37 19 31040352 31040352 + Missense_Mutation SNP T T A TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 31040352 31040352 T A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3826 p.L1276I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 19 0 0.00 10 7 41.18 ZNF568 0 genome.wustl.edu 37 19 37440578 37440578 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 37440578 37440578 T G SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.523 p.F175V 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 48 0 0.00 36 5 12.20 ZNF582 0 genome.wustl.edu 37 19 56896406 56896406 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 56896406 56896406 T C SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.380 p.Q127R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF582 HGNC ENSG00000018869 tier1 - - 98 0 0.00 79 8 9.20 ZNF592 0 genome.wustl.edu 37 15 85334024 85334024 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 15 85334024 85334024 G T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.2309 p.C770F 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 tier1 - - 67 0 0.00 52 4 7.14 ZNF667 0 genome.wustl.edu 37 19 56973713 56973713 + Missense_Mutation SNP T T G TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 56973713 56973713 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.306 p.K102N 0.004 superfamily_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 ZNF667 HGNC ENSG00000198046 tier1 - - 79 0 0.00 90 8 8.16 ZNF680 0 genome.wustl.edu 37 7 63982586 63982586 + Missense_Mutation SNP G G C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 7 63982586 63982586 G C SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.546 p.F182L 0.241 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 ZNF680 HGNC ENSG00000173041 tier1 - - 76 0 0.00 46 41 47.13 ZNF83 0 genome.wustl.edu 37 19 53157444 53157444 + RNA SNP A A C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 53157444 53157444 A C SNP ZNF83 ENST00000600457 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF83 HGNC ENSG00000167766 tier1 - - 119 0 0.00 83 20 19.42 ZNF883 0 genome.wustl.edu 37 9 115760170 115760171 + RNA INS - - TT TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 9 115760170 115760171 - TT INS ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF883 HGNC ENSG00000228623 tier1 33 0 0.00 32 10 23.81 ZNF99 0 genome.wustl.edu 37 19 22942052 22942052 + Missense_Mutation SNP T T C TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c72cd7c-a75c-4cec-b906-195a719b282a eb5fbbea-f23a-43fa-9799-e24846ff415b 19 22942052 22942052 T C SNP ZNF99 ENST00000596209 human ensembl 74_37 -1 novel missense c.659 p.K220R 0.001 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 ZNF99 HGNC ENSG00000213973 tier1 - - 43 0 0.00 29 8 21.62