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 AACS 0 genome.wustl.edu 37 12 125558421 125558421 + Splice_Site SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 125558421 125558421 G T SNP AACS ENST00000316519 human ensembl 74_37 +1 known splice_site c.134-1 e2-1 1.000 - - - no_errors AACS HGNC ENSG00000081760 33 0 0.00 35 2 5.41 ABCA2 0 genome.wustl.edu 37 9 139916857 139916857 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 139916857 139916857 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known silent c.513 p.S171 0.139 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 27 0 0.00 45 4 8.16 ABCC8 0 genome.wustl.edu 37 11 17426153 17426153 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 17426153 17426153 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3466 p.V1156I 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 40 0 0.00 55 4 6.78 ACSF3 0 genome.wustl.edu 37 16 89211764 89211764 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 89211764 89211764 G T SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known missense c.1456 p.A486S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 tier1 - - 65 0 0.00 61 5 7.58 ACSS3 0 genome.wustl.edu 37 12 81648675 81648675 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 81648675 81648675 G A SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.2035 p.V679I 0.996 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 85 0 0.00 98 18 15.25 ACTL6A 0 genome.wustl.edu 37 3 179293147 179293147 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 179293147 179293147 C A SNP ACTL6A ENST00000467615 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACTL6A HGNC ENSG00000136518 tier1 - - 33 0 0.00 77 10 11.49 ADAM17 0 genome.wustl.edu 37 2 9666349 9666349 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 9666349 9666349 C G SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.644 p.R215T 0.999 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 28 0 0.00 61 16 20.51 ADAM22 0 genome.wustl.edu 37 7 87822484 87822484 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 87822484 87822484 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2630 p.S877N 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 44 0 0.00 52 4 7.14 ADAMTS10 0 genome.wustl.edu 37 19 8665990 8665990 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 8665990 8665990 G T SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.632 p.T211N 0.960 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 tier1 - - 23 0 0.00 22 5 18.52 ADAMTS15 0 genome.wustl.edu 37 11 130332588 130332588 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 130332588 130332588 C A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.1455 p.F485L 0.994 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 tier1 - - 41 0 0.00 44 9 16.98 ADCYAP1R1 0 genome.wustl.edu 37 7 31139801 31139801 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 31139801 31139801 G T SNP ADCYAP1R1 ENST00000409489 human ensembl 74_37 +1 novel missense c.1191 p.M397I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 18 0 0.00 32 4 11.11 AFG3L1P 0 genome.wustl.edu 37 16 90066879 90066879 + RNA SNP A A T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 90066879 90066879 A T SNP AFG3L1P ENST00000388970 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AFG3L1P HGNC ENSG00000223959 34 0 0.00 62 4 6.06 AIRE 0 genome.wustl.edu 37 21 45710820 45710820 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 45710820 45710820 G A SNP AIRE ENST00000355347 human ensembl 74_37 +1 known missense c.131 p.G44D 0.001 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors AIRE HGNC ENSG00000160224 tier1 - - 43 0 0.00 57 4 6.45 ALDH3A2 0 genome.wustl.edu 37 17 19564483 19564483 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 19564483 19564483 G T SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known missense c.842 p.R281M 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 tier1 - - 48 0 0.00 66 4 5.71 ALG9 0 genome.wustl.edu 37 11 111739440 111739440 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 111739440 111739440 C A SNP ALG9 ENST00000524386 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ALG9 HGNC ENSG00000086848 67 0 0.00 72 4 5.26 ALOXE3 0 genome.wustl.edu 37 17 8013843 8013843 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 8013843 8013843 C A SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.1357 p.G453W 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 tier1 - - 40 0 0.00 53 4 7.02 ANO3 0 genome.wustl.edu 37 11 26619955 26619955 + Silent SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 26619955 26619955 G C SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known silent c.1491 p.L497 0.950 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 50 0 0.00 77 11 12.50 ANXA2 0 genome.wustl.edu 37 15 60644625 60644625 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 60644625 60644625 C G SNP ANXA2 ENST00000332680 human ensembl 74_37 -1 known missense c.693 p.W231C 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV - no_errors ANXA2 HGNC ENSG00000182718 tier1 - - 44 0 0.00 29 6 17.14 ANXA6 0 genome.wustl.edu 37 5 150497341 150497341 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 150497341 150497341 C A SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known missense c.1496 p.R499M 1.000 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 48 0 0.00 47 3 6.00 APOC1 0 genome.wustl.edu 37 19 45419665 45419666 + Frame_Shift_Ins INS - - A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 45419665 45419666 - A INS APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_ins c.277_278 p.T96fs 0.009:0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 tier1 18 0 0.00 14 4 22.22 APOL3 0 genome.wustl.edu 37 22 36556899 36556899 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 36556899 36556899 A C SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.41 p.F14C 0.001 NULL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 20 0 0.00 47 5 9.62 APOL5 0 genome.wustl.edu 37 22 36122764 36122764 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 36122764 36122764 G T SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known nonsense c.649 p.G217* 0.000 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 tier1 - - 29 0 0.00 51 4 7.27 ARHGAP12 0 genome.wustl.edu 37 10 32096093 32096093 + RNA SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 32096093 32096093 A G SNP ARHGAP12 ENST00000492028 human ensembl 74_37 -1 known rna NULL NULL 0.096 - - - no_errors ARHGAP12 HGNC ENSG00000165322 tier1 - - 48 0 0.00 86 8 8.42 ARHGEF1 0 genome.wustl.edu 37 19 42406690 42406690 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 42406690 42406690 G T SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.1550 p.G517V 0.967 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 - - 36 0 0.00 50 4 7.41 ARIH2 0 genome.wustl.edu 37 3 49020390 49020390 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 49020390 49020390 G T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.1388 p.R463L 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 tier1 - - 46 0 0.00 52 4 7.14 ARL16 0 genome.wustl.edu 37 17 79649152 79649152 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 79649152 79649152 G T SNP ARL16 ENST00000397498 human ensembl 74_37 -1 known missense c.334 p.Q112K 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 45 0 0.00 63 4 5.97 ARMC1 0 genome.wustl.edu 37 8 66539504 66539504 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 66539504 66539504 G T SNP ARMC1 ENST00000276569 human ensembl 74_37 -1 known missense c.130 p.L44I 1.000 pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ENSG00000104442 17 0 0.00 47 4 7.84 ARMC1 0 genome.wustl.edu 37 8 66539513 66539513 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 66539513 66539513 G A SNP ARMC1 ENST00000458464 human ensembl 74_37 -1 known missense c.5 p.S2F 1.000 NULL superfamily_HeavyMe-assoc_HMA - no_errors ARMC1 HGNC ENSG00000104442 20 0 0.00 45 7 13.46 ASB6 0 genome.wustl.edu 37 9 132400710 132400710 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 132400710 132400710 C A SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.625 p.D209Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 - no_errors ASB6 HGNC ENSG00000148331 tier1 - - 44 0 0.00 35 12 25.53 ASB9 0 genome.wustl.edu 37 X 15287931 15287931 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 15287931 15287931 G A SNP ASB9 ENST00000380488 human ensembl 74_37 -1 known silent c.66 p.I22 0.000 NULL 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 - no_errors ASB9 HGNC ENSG00000102048 tier1 - - 17 0 0.00 18 13 41.94 ASPG 0 genome.wustl.edu 37 14 104558980 104558980 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 104558980 104558980 C T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known silent c.93 p.P31 0.006 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 44 0 0.00 71 4 5.33 ASS1 0 genome.wustl.edu 37 9 133352188 133352188 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 133352188 133352188 G A SNP ASS1 ENST00000470849 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ASS1 HGNC ENSG00000130707 tier1 - - 23 0 0.00 24 8 25.00 ATP8B3 0 genome.wustl.edu 37 19 1802525 1802525 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 1802525 1802525 G A SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.1024 p.R342C 0.986 pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B3 HGNC ENSG00000130270 tier1 - - 60 0 0.00 76 7 8.43 BARD1 0 genome.wustl.edu 37 2 215593433 215593433 + Silent SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 215593433 215593433 C G SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known silent c.2301 p.V767 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 31 0 0.00 33 3 8.33 BLK 0 genome.wustl.edu 37 8 11407731 11407731 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 11407731 11407731 G C SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.432 p.K144N 0.946 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 tier1 - - 34 0 0.00 28 10 26.32 BRAT1 0 genome.wustl.edu 37 7 2577959 2577959 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 2577959 2577959 C A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.2210 p.R737L 0.007 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 46 0 0.00 76 4 5.00 BTN3A3 0 genome.wustl.edu 37 6 26444241 26444241 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 26444241 26444241 G A SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.142 p.A48T 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 51 0 0.00 62 4 6.06 C1orf106 0 genome.wustl.edu 37 1 200868725 200868725 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 200868725 200868725 G T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.435 p.A145 1.000 pfam_DUF3338 pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 42 0 0.00 73 4 5.19 C1orf173 0 genome.wustl.edu 37 1 75072384 75072384 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 75072384 75072384 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1390 p.G464W 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 37 0 0.00 36 10 21.74 C20orf202 0 genome.wustl.edu 37 20 1187678 1187678 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 1187678 1187678 C T SNP C20orf202 ENST00000400633 human ensembl 74_37 +1 known missense c.301 p.P101S 0.003 NULL NULL - no_errors C20orf202 HGNC ENSG00000215595 tier1 - - 43 0 0.00 52 5 8.77 C3orf30 0 genome.wustl.edu 37 3 118865547 118865547 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 118865547 118865547 G C SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.511 p.D171H 0.946 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 - - 25 0 0.00 35 8 18.60 CACNA1S 0 genome.wustl.edu 37 1 201047063 201047063 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 201047063 201047063 G T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.1563 p.P521 0.985 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 57 0 0.00 63 4 5.97 CAD 0 genome.wustl.edu 37 2 27461302 27461302 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 27461302 27461302 C A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.4864 p.L1622M 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 tier1 - - 41 0 0.00 64 4 5.88 CALML4 0 genome.wustl.edu 37 15 68486374 68486374 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 68486374 68486374 G T SNP CALML4 ENST00000467889 human ensembl 74_37 -1 known silent c.570 p.T190 0.938 smart_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML4 HGNC ENSG00000129007 tier1 - - 50 0 0.00 76 5 6.17 CAPN15 0 genome.wustl.edu 37 16 602930 602930 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 602930 602930 A G SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.2972 p.N991S 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 tier1 - - 35 0 0.00 51 6 10.53 CAPN9 0 genome.wustl.edu 37 1 230898516 230898516 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 230898516 230898516 G T SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known nonsense c.520 p.E174* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 tier1 - - 31 0 0.00 40 4 9.09 CARS2 0 genome.wustl.edu 37 13 111329405 111329405 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 111329405 111329405 G T SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.701 p.A234E 0.998 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 29 0 0.00 50 3 5.56 CASP5 0 genome.wustl.edu 37 11 104874037 104874037 + Silent SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 104874037 104874037 T C SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known silent c.546 p.E182 0.007 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 29 0 0.00 48 4 7.69 CCAR1 0 genome.wustl.edu 37 10 70520826 70520826 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 70520826 70520826 G T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.1983 p.Q661H 1.000 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 47 0 0.00 70 4 5.41 CCDC166 0 genome.wustl.edu 37 8 144790064 144790064 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 144790064 144790064 C G SNP CCDC166 ENST00000542437 human ensembl 74_37 -1 known missense c.216 p.E72D 0.971 NULL NULL - no_errors CCDC166 HGNC ENSG00000255181 20 0 0.00 39 5 11.36 CCDC63 0 genome.wustl.edu 37 12 111336860 111336860 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 111336860 111336860 G A SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.1273 p.A425T 0.984 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 rs148044780 - 71 0 0.00 88 11 11.11 CCDC77 0 genome.wustl.edu 37 12 549908 549908 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 549908 549908 G T SNP CCDC77 ENST00000239830 human ensembl 74_37 +1 known missense c.1167 p.K389N 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 41 0 0.00 70 4 5.41 CCT6B 0 genome.wustl.edu 37 17 33266647 33266647 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 33266647 33266647 C T SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.1054 p.E352K 0.911 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 tier1 - - 28 0 0.00 50 8 13.79 CCT6P1 0 genome.wustl.edu 37 7 65217249 65217249 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 65217249 65217249 C A SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.228 - - - no_errors CCT6P1 HGNC ENSG00000228409 16 0 0.00 23 5 17.86 CDC14B 0 genome.wustl.edu 37 9 99284790 99284790 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 99284790 99284790 G T SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known silent c.1341 p.L447 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 tier1 - - 79 0 0.00 128 28 17.95 CDH23 0 genome.wustl.edu 37 10 73572558 73572558 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 73572558 73572558 C A SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.2824 p.P942T 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 39 0 0.00 18 10 35.71 CDH9 0 genome.wustl.edu 37 5 26902614 26902614 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 26902614 26902614 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known silent c.1224 p.Y408 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 rs150876106 - 31 0 0.00 62 4 6.06 CDK17 0 genome.wustl.edu 37 12 96704833 96704833 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 96704833 96704833 G T SNP CDK17 ENST00000261211 human ensembl 74_37 -1 known silent c.540 p.S180 0.752 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK17 HGNC ENSG00000059758 tier1 - - 49 0 0.00 74 5 6.33 CFH 0 genome.wustl.edu 37 1 196695762 196695762 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 196695762 196695762 C A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.2036 p.T679K 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 56 0 0.00 58 16 21.62 CHCHD4 0 genome.wustl.edu 37 3 14157970 14157970 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 14157970 14157970 G T SNP CHCHD4 ENST00000295767 human ensembl 74_37 -1 known missense c.116 p.A39E 1.000 NULL pfam_CHCH - no_errors CHCHD4 HGNC ENSG00000163528 39 0 0.00 65 4 5.80 CHD7 0 genome.wustl.edu 37 8 61654949 61654949 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 61654949 61654949 C G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.958 p.Q320E 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 48 0 0.00 86 8 8.51 CHEK2P2 0 genome.wustl.edu 37 15 20489414 20489414 + RNA SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 20489414 20489414 A C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.807 - - - no_errors CHEK2P2 HGNC ENSG00000259156 tier1 - - 189 0 0.00 214 12 5.29 CHP2 0 genome.wustl.edu 37 16 23767768 23767768 + Nonsense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 23767768 23767768 C T SNP CHP2 ENST00000300113 human ensembl 74_37 +1 known nonsense c.412 p.Q138* 0.997 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP2 HGNC ENSG00000166869 18 0 0.00 27 4 12.90 CHRND 0 genome.wustl.edu 37 2 233398705 233398705 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 233398705 233398705 C A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.1112 p.P371H 0.010 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 46 0 0.00 54 4 6.90 CIRH1A 0 genome.wustl.edu 37 16 69184518 69184518 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 69184518 69184518 A C SNP CIRH1A ENST00000314423 human ensembl 74_37 +1 known missense c.817 p.S273R 0.204 superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 tier1 - - 46 0 0.00 48 4 7.69 CLIC4 0 genome.wustl.edu 37 1 25167367 25167367 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 25167367 25167367 G T SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known missense c.701 p.C234F 1.000 superfamily_Glutathione-S-Trfase_C-like,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 67 4 5.63 CMAHP 0 genome.wustl.edu 37 6 25137894 25137894 + RNA SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 25137894 25137894 G T SNP CMAHP ENST00000377989 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CMAHP HGNC ENSG00000168405 tier1 - - 34 0 0.00 49 4 7.55 CNOT1 0 genome.wustl.edu 37 16 58577315 58577316 + Frame_Shift_Ins INS - - A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 58577315 58577316 - A INS CNOT1 ENST00000441024 human ensembl 74_37 -1 known frame_shift_ins c.4630_4629 p.L1543fs 0.004:0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 47 0 0.00 44 6 12.00 CNOT1 0 genome.wustl.edu 37 16 58580275 58580275 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 58580275 58580275 G T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.3956 p.P1319Q 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 60 0 0.00 74 4 5.13 CNPY1 0 genome.wustl.edu 37 7 155301589 155301589 + Silent SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 155301589 155301589 C A SNP CNPY1 ENST00000321736 human ensembl 74_37 -1 putative silent c.144 p.A48 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 tier1 - - 36 0 0.00 49 4 7.55 COL4A4 0 genome.wustl.edu 37 2 227985836 227985836 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 227985836 227985836 C G SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.221 p.G74A 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 8 0 0.00 12 7 36.84 CPO 0 genome.wustl.edu 37 2 207833984 207833984 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 207833984 207833984 T C SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.949 p.Y317H 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 tier1 - - 63 0 0.00 43 17 28.33 CROCCP3 0 genome.wustl.edu 37 1 16803494 16803494 + RNA SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 16803494 16803494 C G SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors CROCCP3 HGNC ENSG00000080947 tier1 - - 26 0 0.00 38 8 17.39 CSF2RB 0 genome.wustl.edu 37 22 37325448 37325448 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 37325448 37325448 G T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.396 p.Q132H 1.000 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 tier1 - - 31 0 0.00 52 4 7.14 CUL7 0 genome.wustl.edu 37 6 43014654 43014654 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 43014654 43014654 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.2613 p.R871 1.000 superfamily_Galactose-bd-like pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 tier1 - - 48 0 0.00 65 6 8.45 CWC15 0 genome.wustl.edu 37 11 94696474 94696475 + RNA INS - - A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 94696474 94696475 - A INS CWC15 ENST00000545018 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CWC15 HGNC ENSG00000150316 tier1 11 0 0.00 13 9 40.91 DAB1 0 genome.wustl.edu 37 1 57538009 57538009 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 57538009 57538009 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.385 p.V129I 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 65 0 0.00 91 10 9.90 DCAF13 0 genome.wustl.edu 37 8 104427572 104427572 + Silent SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 104427572 104427572 T C SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.354 p.T118 0.984 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 49 0 0.00 73 7 8.75 DCAF16 0 genome.wustl.edu 37 4 17805701 17805701 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 17805701 17805701 T C SNP DCAF16 ENST00000382247 human ensembl 74_37 -1 known missense c.64 p.I22V 0.000 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 tier1 - - 27 0 0.00 42 11 20.75 DCAF4L1 0 genome.wustl.edu 37 4 41984513 41984513 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 41984513 41984513 C T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.704 p.T235M 0.151 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 34 0 0.00 34 2 5.56 DCDC1 0 genome.wustl.edu 37 11 31329280 31329280 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 31329280 31329280 G C SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.340 p.L114V 0.478 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 35 0 0.00 50 9 15.25 DDX18 0 genome.wustl.edu 37 2 118578865 118578865 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 118578865 118578865 G T SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known nonsense c.643 p.E215* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 36 0 0.00 51 4 7.27 DDX27 0 genome.wustl.edu 37 20 47846772 47846772 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 47846772 47846772 G T SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known missense c.1010 p.R337L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 25 0 0.00 60 4 6.25 DGKK 0 genome.wustl.edu 37 X 50114766 50114766 + RNA DEL T T - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 50114766 50114766 T - DEL DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.865 - - - no_errors DGKK HGNC ENSG00000204466 tier1 33 0 0.00 37 8 17.78 DGKZ 0 genome.wustl.edu 37 11 46392886 46392886 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 46392886 46392886 C G SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.1158 p.F386L 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 tier1 - - 67 0 0.00 107 14 11.48 DIDO1 0 genome.wustl.edu 37 20 61542195 61542195 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 61542195 61542195 G T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.770 p.P257Q 0.003 superfamily_Znf_FYVE_PHD pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 38 0 0.00 55 4 6.67 DIXDC1 0 genome.wustl.edu 37 11 111835289 111835289 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 111835289 111835289 A G SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.77 p.Y26C 0.996 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 tier1 - - 26 0 0.00 34 13 27.66 DLC1 0 genome.wustl.edu 37 8 13162754 13162754 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 13162754 13162754 A G SNP DLC1 ENST00000511869 human ensembl 74_37 -1 novel missense c.1372 p.F458L 0.314 NULL NULL - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 89 0 0.00 141 26 15.57 DLK1 0 genome.wustl.edu 37 14 101200909 101200909 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 101200909 101200909 G A SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known silent c.828 p.P276 0.001 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 tier1 - - 48 0 0.00 42 10 19.23 DMBT1 0 genome.wustl.edu 37 10 124390762 124390762 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 124390762 124390762 G T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.5924 p.C1975F 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 28 0 0.00 36 2 5.26 DOK2 0 genome.wustl.edu 37 8 21767244 21767244 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 21767244 21767244 G C SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known missense c.817 p.R273G 0.976 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 tier1 - - 44 0 0.00 80 19 19.19 DPPA3 0 genome.wustl.edu 37 12 7867910 7867910 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 7867910 7867910 A G SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known missense c.214 p.R72G 0.000 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 tier1 - - 65 0 0.00 110 19 14.73 DST 0 genome.wustl.edu 37 6 56371273 56371273 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 56371273 56371273 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.19339 p.Q6447* 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 46 0 0.00 45 4 8.16 DTL 0 genome.wustl.edu 37 1 212274230 212274230 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 212274230 212274230 G T SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1898 p.C633F 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 tier1 - - 64 0 0.00 74 4 5.13 DUSP10 0 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 25 0 0.00 28 2 6.67 DUSP10 0 genome.wustl.edu 37 1 221912479 221912479 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 221912479 221912479 C A SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.608 p.R203L 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 29 0 0.00 32 2 5.88 DYNC1H1 0 genome.wustl.edu 37 14 102452280 102452280 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 102452280 102452280 G C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.1718 p.G573A 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 33 0 0.00 23 4 14.81 EDEM1 0 genome.wustl.edu 37 3 5244667 5244667 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 5244667 5244667 G A SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.875 p.G292E 0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 tier1 - - 46 0 0.00 59 13 18.06 EIF4EBP1 0 genome.wustl.edu 37 8 37914778 37914778 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 37914778 37914778 G A SNP EIF4EBP1 ENST00000338825 human ensembl 74_37 +1 known missense c.325 p.G109S 0.299 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP1 HGNC ENSG00000187840 tier1 - - 56 0 0.00 89 9 9.18 EML2 0 genome.wustl.edu 37 19 46145561 46145561 + Silent SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 46145561 46145561 C A SNP EML2 ENST00000587152 human ensembl 74_37 -1 known silent c.222 p.S74 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 58 0 0.00 69 4 5.48 ENSG00000173213 0 genome.wustl.edu 37 18 47974 47974 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 18 47974 47974 G A SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known missense c.751 p.R251W 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 - - 70 0 0.00 89 22 19.47 ENSG00000203496 0 genome.wustl.edu 37 10 38742324 38742324 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 38742324 38742324 G A SNP ENSG00000203496 ENST00000428915 human ensembl 74_37 +1 known rna NULL NULL 0.664 - - - no_errors RP11-291L22.4 Clone_based_vega_gene ENSG00000203496 tier1 - - 35 0 0.00 56 11 16.42 ENSG00000214733 0 genome.wustl.edu 37 8 144872533 144872533 + RNA SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 144872533 144872533 C G SNP ENSG00000214733 ENST00000527139 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RP11-429J17.8 Clone_based_vega_gene ENSG00000214733 tier1 - - 48 0 0.00 114 8 6.56 ENSG00000214733 0 genome.wustl.edu 37 8 144872534 144872534 + RNA SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 144872534 144872534 T G SNP ENSG00000214733 ENST00000527139 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-429J17.8 Clone_based_vega_gene ENSG00000214733 tier1 - - 47 0 0.00 118 8 6.35 ENSG00000221101 0 genome.wustl.edu 37 6 87183272 87183272 + RNA SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 87183272 87183272 T C SNP ENSG00000221101 ENST00000408174 human ensembl 74_37 -1 novel rna NULL NULL 0.057 - - - no_errors AL391417.1 Clone_based_ensembl_gene ENSG00000221101 tier1 - - 106 0 0.00 78 16 17.02 ENSG00000221226 0 genome.wustl.edu 37 16 77744272 77744272 + RNA SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 77744272 77744272 G T SNP ENSG00000221226 ENST00000408299 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC092724.1 Clone_based_ensembl_gene ENSG00000221226 tier1 - - 28 0 0.00 24 4 14.29 ENSG00000221810 0 genome.wustl.edu 37 5 92053169 92053169 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 92053169 92053169 G A SNP ENSG00000221810 ENST00000408883 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC026781.1 Clone_based_ensembl_gene ENSG00000221810 tier1 rs2021050 - 26 0 0.00 25 5 16.67 ENSG00000226145 0 genome.wustl.edu 37 17 16722167 16722167 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 16722167 16722167 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 121 0 0.00 212 14 6.19 ENSG00000226145 0 genome.wustl.edu 37 17 16722629 16722629 + RNA SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 16722629 16722629 C T SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.438 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 62 0 0.00 97 8 7.62 ENSG00000228748 0 genome.wustl.edu 37 10 79551102 79551103 + RNA DEL AA AA - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 79551102 79551103 AA - DEL ENSG00000228748 ENST00000601701 human ensembl 74_37 +1 known rna NULL NULL 0.981:0.979 - - - no_errors RP13-39P12.3 Clone_based_vega_gene ENSG00000228748 tier1 36 0 0.00 36 4 10.00 ENSG00000232274 0 genome.wustl.edu 37 1 143196753 143196753 + RNA SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 143196753 143196753 A G SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.270 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 111 0 0.00 203 27 11.74 ENSG00000233858 0 genome.wustl.edu 37 8 49504162 49504162 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 49504162 49504162 C A SNP ENSG00000233858 ENST00000430626 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000233858 tier1 - - 25 0 0.00 32 4 11.11 ENSG00000237031 0 genome.wustl.edu 37 2 80831111 80831111 + RNA SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 80831111 80831111 C T SNP ENSG00000237031 ENST00000596783 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008067.2 Clone_based_vega_gene ENSG00000237031 tier1 - - 34 0 0.00 53 12 18.46 ENSG00000251879 0 genome.wustl.edu 37 Y 5742305 5742305 + RNA SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 Y 5742305 5742305 A C SNP ENSG00000251879 ENST00000516070 human ensembl 74_37 +1 novel rna NULL NULL 0.999 - - - no_errors AC010874.1 Clone_based_ensembl_gene ENSG00000251879 tier1 - - 20 0 0.00 44 21 32.31 EP300 0 genome.wustl.edu 37 22 41565565 41565565 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 41565565 41565565 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4231 p.T1411A 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 18 0 0.00 48 12 20.00 EPHX3 0 genome.wustl.edu 37 19 15342090 15342090 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 15342090 15342090 G A SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known silent c.447 p.D149 0.198 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 tier1 - - 16 0 0.00 23 6 20.69 ERBB4 0 genome.wustl.edu 37 2 212566719 212566719 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 212566719 212566719 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1462 p.R488W 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 tier1 - - 38 0 0.00 62 20 24.39 F2R 0 genome.wustl.edu 37 5 76028843 76028843 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 76028843 76028843 G T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.793 p.G265C 0.278 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 14 0 0.00 19 2 9.52 F5 0 genome.wustl.edu 37 1 169513762 169513762 + Splice_Site SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 169513762 169513762 C G SNP F5 ENST00000367796 human ensembl 74_37 -1 novel splice_site c.1763-1 e12-1 0.000 - - - no_errors F5 HGNC ENSG00000198734 tier1 - - 23 0 0.00 19 6 23.08 FAM129A 0 genome.wustl.edu 37 1 184764681 184764681 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 184764681 184764681 G T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.2217 p.H739Q 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 22 0 0.00 40 4 9.09 FAM135B 0 genome.wustl.edu 37 8 139160865 139160865 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 139160865 139160865 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.3346 p.L1116V 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 49 0 0.00 69 11 13.75 FAM138B 0 genome.wustl.edu 37 2 114336404 114336404 + RNA DEL A A - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 114336404 114336404 A 0 DEL FAM138B ENST00000432583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM138B HGNC ENSG00000226516 10 0 0.00 7 2 22.22 FAM149B1 0 genome.wustl.edu 37 10 74992864 74992864 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 74992864 74992864 G T SNP FAM149B1 ENST00000242505 human ensembl 74_37 +1 known missense c.1295 p.S432I 1.000 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 tier1 - - 28 0 0.00 30 11 26.83 FAM182A 0 genome.wustl.edu 37 20 26061832 26061832 + RNA SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 26061832 26061832 A C SNP FAM182A ENST00000376398 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors FAM182A HGNC ENSG00000125804 tier1 - - 47 0 0.00 89 5 5.32 FAM209B 0 genome.wustl.edu 37 20 55108439 55108439 + Silent SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 55108439 55108439 C G SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known silent c.42 p.L14 0.000 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 tier1 - - 40 0 0.00 52 8 13.33 FAM214A 0 genome.wustl.edu 37 15 52970255 52970255 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 52970255 52970255 G A SNP FAM214A ENST00000562351 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors FAM214A HGNC ENSG00000047346 tier1 - - 33 0 0.00 38 8 17.02 FER1L4 0 genome.wustl.edu 37 20 34164370 34164370 + RNA SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 34164370 34164370 C T SNP FER1L4 ENST00000440443 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FER1L4 HGNC ENSG00000088340 tier1 - - 46 0 0.00 77 8 9.41 FGFR1 0 genome.wustl.edu 37 8 38287203 38287203 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 38287203 38287203 A C SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.454 p.S152A 1.000 pirsf_FGF_rcpt_fam,smart_Ig_sub,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 FGFR1 HGNC ENSG00000077782 tier1 - - 47 0 0.00 84 12 12.50 FGG 0 genome.wustl.edu 37 4 155528013 155528013 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 155528013 155528013 G A SNP FGG ENST00000336098 human ensembl 74_37 -1 known missense c.973 p.P325S 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 tier1 - - 51 0 0.00 68 11 13.92 FHAD1 0 genome.wustl.edu 37 1 15653613 15653613 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 15653613 15653613 G T SNP FHAD1 ENST00000375999 human ensembl 74_37 +1 known missense c.1532 p.R511L 0.008 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 24 0 0.00 35 2 5.41 FLAD1 0 genome.wustl.edu 37 1 154960625 154960625 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 154960625 154960625 G T SNP FLAD1 ENST00000405236 human ensembl 74_37 +1 known silent c.120 p.L40 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 tier1 - - 53 0 0.00 72 4 5.26 FLJ36000 0 genome.wustl.edu 37 17 21911506 21911506 + RNA SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 21911506 21911506 T G SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 40 0 0.00 29 6 17.14 FLRT2 0 genome.wustl.edu 37 14 86092339 86092339 + RNA SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 86092339 86092339 A C SNP FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 22 0 0.00 29 5 14.71 FOXN2 0 genome.wustl.edu 37 2 48573460 48573460 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 48573460 48573460 C G SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known missense c.107 p.A36G 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 37 0 0.00 34 3 8.11 FRAS1 0 genome.wustl.edu 37 4 79188042 79188042 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 79188042 79188042 G C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.742 p.E248Q 0.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 51 0 0.00 80 7 8.05 FRMD4A 0 genome.wustl.edu 37 10 13824953 13824953 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 13824953 13824953 A G SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.353 p.F118S 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 59 0 0.00 42 17 28.81 FUT11 0 genome.wustl.edu 37 10 75533542 75533542 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 75533542 75533542 G T SNP FUT11 ENST00000372841 human ensembl 74_37 +1 known missense c.1303 p.G435C 1.000 pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 tier1 - - 59 0 0.00 57 4 6.56 G2E3 0 genome.wustl.edu 37 14 31074771 31074772 + Frame_Shift_Ins INS - - A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 31074771 31074772 0 A INS G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_ins c.1071_1072 p.T360fs 1.000:0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 36 0 0.00 75 8 9.64 GALNTL6 0 genome.wustl.edu 37 4 172735821 172735821 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 172735821 172735821 G T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known silent c.90 p.L30 0.953 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 43 0 0.00 62 4 6.06 GBF1 0 genome.wustl.edu 37 10 104139119 104139119 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 104139119 104139119 G C SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.4570 p.E1524Q 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 45 0 0.00 28 3 9.68 GCC2 0 genome.wustl.edu 37 2 109086106 109086106 + Splice_Site SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 109086106 109086106 G T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known splice_site c.322-1 e6-1 1.000 - - - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 27 0 0.00 66 4 5.71 GJA8 0 genome.wustl.edu 37 1 147380796 147380796 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 147380796 147380796 G A SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known silent c.714 p.R238 1.000 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 tier1 - - 38 0 0.00 45 12 21.05 GLI1 0 genome.wustl.edu 37 12 57858936 57858936 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 57858936 57858936 G T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known silent c.432 p.G144 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 62 0 0.00 95 15 13.64 GPC5 0 genome.wustl.edu 37 13 92408660 92408660 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 92408660 92408660 A C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1266 p.E422D 0.692 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 tier1 - - 36 0 0.00 52 8 13.33 GPC5 0 genome.wustl.edu 37 13 92408605 92408605 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 92408605 92408605 A G SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1211 p.Q404R 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 26 0 0.00 48 6 11.11 GPR98 0 genome.wustl.edu 37 5 90041472 90041472 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 90041472 90041472 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.10834 p.D3612Y 1.000 pfam_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 31 0 0.00 44 4 8.33 GRID2IP 0 genome.wustl.edu 37 7 6550294 6550294 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 6550294 6550294 G A SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative silent c.1599 p.G533 0.952 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 90 0 0.00 137 22 13.84 GRM2 0 genome.wustl.edu 37 3 51746583 51746583 + Frame_Shift_Del DEL C C - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 51746583 51746583 C - DEL GRM2 ENST00000395052 human ensembl 74_37 +1 known frame_shift_del c.545 p.R183fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 tier1 51 0 0.00 77 16 17.20 GTSF1 0 genome.wustl.edu 37 12 54849903 54849905 + RNA DEL AGA AGA - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 54849903 54849905 AGA - DEL GTSF1 ENST00000552336 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors GTSF1 HGNC ENSG00000170627 tier1 39 0 0.00 40 8 16.67 HBG2 0 genome.wustl.edu 37 11 5275627 5275627 + Silent SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 5275627 5275627 A C SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known silent c.210 p.T70 0.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 tier1 - - 151 0 0.00 147 18 10.91 HERC1 0 genome.wustl.edu 37 15 64066900 64066900 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 64066900 64066900 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.923 p.R308H 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 41 0 0.00 58 6 9.23 HILPDA 0 genome.wustl.edu 37 7 128097963 128097964 + RNA INS - - A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 128097963 128097964 - A INS HILPDA ENST00000466473 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.015 - - - no_errors HILPDA HGNC ENSG00000135245 tier1 22 0 0.00 19 4 17.39 HMCN1 0 genome.wustl.edu 37 1 185951416 185951416 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 185951416 185951416 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2685 p.S895R 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 53 0 0.00 69 8 10.39 HMGB1P5 0 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC ENSG00000132967 28 0 0.00 41 4 8.89 HNRNPUL2 0 genome.wustl.edu 37 11 62491164 62491164 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 62491164 62491164 G T SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known missense c.786 p.D262E 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 tier1 - - 39 0 0.00 48 8 14.29 HOOK2 0 genome.wustl.edu 37 19 12881826 12881826 + Silent SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 12881826 12881826 C A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.822 p.A274 0.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 32 0 0.00 39 3 7.14 HOXA1 0 genome.wustl.edu 37 7 27135319 27135319 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 27135319 27135319 G A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known silent c.213 p.H71 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 tier1 rs2074398 - 43 0 0.00 64 4 5.88 HPS4 0 genome.wustl.edu 37 22 26860050 26860050 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 26860050 26860050 G T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.1585 p.Q529K 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 36 0 0.00 49 4 7.55 HSP90AB2P 0 genome.wustl.edu 37 4 13338995 13338995 + RNA SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 13338995 13338995 A C SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors HSP90AB2P HGNC ENSG00000205940 tier1 - - 46 0 0.00 83 12 12.63 HTR5A 0 genome.wustl.edu 37 7 154863168 154863168 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 154863168 154863168 G T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known nonsense c.559 p.E187* 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT5A_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 tier1 - - 51 0 0.00 43 4 8.51 HUNK 0 genome.wustl.edu 37 21 33371416 33371416 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 33371416 33371416 G T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.2064 p.E688D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 50 0 0.00 72 4 5.26 HYAL4 0 genome.wustl.edu 37 7 123508663 123508663 + Silent SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 123508663 123508663 C G SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known silent c.336 p.L112 0.183 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 tier1 - - 78 0 0.00 73 15 17.05 IFNGR1 0 genome.wustl.edu 37 6 137540466 137540466 + RNA SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 137540466 137540466 C T SNP IFNGR1 ENST00000478333 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors IFNGR1 HGNC ENSG00000027697 tier1 - - 50 0 0.00 54 4 6.90 IFT74 0 genome.wustl.edu 37 9 27056331 27056331 + Splice_Site SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 27056331 27056331 G T SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known splice_site c.1498-1 e17-1 1.000 - - - no_errors IFT74 HGNC ENSG00000096872 23 0 0.00 49 4 7.55 IGDCC4 0 genome.wustl.edu 37 15 65674432 65674432 + RNA SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 65674432 65674432 T A SNP IGDCC4 ENST00000558048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 28 0 0.00 45 5 10.00 IZUMO3 0 genome.wustl.edu 37 9 24544258 24544258 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 24544258 24544258 A G SNP IZUMO3 ENST00000543880 human ensembl 74_37 -1 novel missense c.431 p.L144P 0.907 NULL NULL - no_errors IZUMO3 HGNC ENSG00000205442 tier1 - - 62 0 0.00 52 7 11.86 JAKMIP1 0 genome.wustl.edu 37 4 6066624 6066624 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 6066624 6066624 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1414 p.E472K 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 75 0 0.00 61 26 29.89 KCNK2 0 genome.wustl.edu 37 1 215408174 215408174 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 215408174 215408174 G A SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.967 p.G323R 1.000 prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TRAAK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 tier1 - - 28 0 0.00 46 4 8.00 KCTD7 0 genome.wustl.edu 37 7 66104124 66104124 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 66104124 66104124 G T SNP KCTD7 ENST00000275532 human ensembl 74_37 +1 known missense c.775 p.V259L 0.998 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 24 0 0.00 38 2 5.00 KDM2A 0 genome.wustl.edu 37 11 66999063 66999063 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 66999063 66999063 G T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.1111 p.G371W 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 60 0 0.00 73 4 5.19 KIAA1551 0 genome.wustl.edu 37 12 32136172 32136172 + Silent SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 32136172 32136172 T C SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known silent c.2283 p.A761 0.157 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 37 0 0.00 76 10 11.49 KIAA1919 0 genome.wustl.edu 37 6 111587146 111587146 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 111587146 111587146 C G SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.381 p.F127L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 39 0 0.00 31 8 20.51 KLHL10 0 genome.wustl.edu 37 17 40001402 40001402 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 40001402 40001402 G T SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known nonsense c.709 p.E237* 0.996 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 tier1 - - 30 0 0.00 36 4 10.00 KMT2A 0 genome.wustl.edu 37 11 118348845 118348845 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 118348845 118348845 C A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.3498 p.D1166E 1.000 pfam_Znf_CXXC,pirsf_MeTrfase_trithorax,pfscan_Znf_CXXC pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 53 0 0.00 55 4 6.78 KMT2C 0 genome.wustl.edu 37 7 151859283 151859283 + Frame_Shift_Del DEL T T - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 151859283 151859283 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.11379 p.K3793fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 33 0 0.00 35 3 7.89 LCT 0 genome.wustl.edu 37 2 136564731 136564731 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 136564731 136564731 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.4140 p.G1380 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 52 0 0.00 73 4 5.19 LEMD3 0 genome.wustl.edu 37 12 65632541 65632541 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 65632541 65632541 G A SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known missense c.1868 p.R623H 1.000 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 tier1 - - 24 0 0.00 49 8 14.04 LINC00052 0 genome.wustl.edu 37 15 88121520 88121521 + RNA DEL TC TC - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 88121520 88121521 TC - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.018:0.021 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 24 0 0.00 26 4 13.33 LINC00686 0 genome.wustl.edu 37 20 61326439 61326440 + RNA INS - - CTGCACCTGCACCTGCAC TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 61326439 61326440 0 CTGCACCTGCACCTGCAC INS LINC00686 ENST00000435412 human ensembl 74_37 -1 known rna NULL NULL 0.017:0.023 - - - no_errors LINC00686 HGNC ENSG00000237687 15 0 0.00 42 5 10.64 LMAN2 0 genome.wustl.edu 37 5 176765595 176765595 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 176765595 176765595 G T SNP LMAN2 ENST00000303127 human ensembl 74_37 -1 known silent c.327 p.L109 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2 HGNC ENSG00000169223 19 0 0.00 53 4 7.02 LOC100294362 0 genome.wustl.edu 37 17 78327572 78327572 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 78327572 78327572 C A SNP LOC100294362 ENST00000575034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 tier1 - - 24 0 0.00 25 4 13.79 LOC101928521 0 genome.wustl.edu 37 4 647856 647856 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 647856 647856 C A SNP LOC101928521 ENST00000468356 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1191J2.2 Clone_based_vega_gene ENSG00000242686 tier1 - - 45 0 0.00 76 6 7.23 LPHN2 0 genome.wustl.edu 37 1 82409086 82409086 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 82409086 82409086 C A SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known nonsense c.831 p.Y277* 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 15 0 0.00 23 4 14.81 LRCH4 0 genome.wustl.edu 37 7 100174539 100174539 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 100174539 100174539 G T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1454 p.P485H 0.418 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 tier1 - - 41 0 0.00 27 9 25.00 LRRC53 0 genome.wustl.edu 37 1 74946454 74946454 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 74946454 74946454 G A SNP LRRC53 ENST00000294635 human ensembl 74_37 -1 novel missense c.287 p.S96F 0.689 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 tier1 - - 17 0 0.00 20 5 20.00 LYNX1 0 genome.wustl.edu 37 8 143856632 143856632 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 143856632 143856632 G C SNP LYNX1 ENST00000345173 human ensembl 74_37 -1 known missense c.304 p.L102V 0.399 smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYNX1 HGNC ENSG00000180155 tier1 - - 30 0 0.00 36 28 43.75 LYNX1 0 genome.wustl.edu 37 8 143857078 143857078 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 143857078 143857078 G A SNP LYNX1 ENST00000335822 human ensembl 74_37 -1 known silent c.87 p.N29 0.704 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYNX1 HGNC ENSG00000180155 tier1 - - 32 0 0.00 62 7 10.14 LZTS2 0 genome.wustl.edu 37 10 102763685 102763685 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 102763685 102763685 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.830 p.S277F 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 30 0 0.00 20 2 9.09 MAML3 0 genome.wustl.edu 37 4 140812013 140812013 + Nonsense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 140812013 140812013 G A SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known nonsense c.577 p.R193* 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 44 0 0.00 64 13 16.88 MAP3K10 0 genome.wustl.edu 37 19 40711051 40711051 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 40711051 40711051 G T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.1036 p.G346W 0.950 pirsf_MAPKKK9/10/11,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 tier1 - - 32 0 0.00 34 4 10.53 MATN4 0 genome.wustl.edu 37 20 43933251 43933251 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 43933251 43933251 G A SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.260 p.P87L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 29 0 0.00 41 5 10.87 MCM10 0 genome.wustl.edu 37 10 13213247 13213247 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 13213247 13213247 G T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known silent c.333 p.T111 0.006 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 tier1 - - 31 0 0.00 37 4 9.76 ME3 0 genome.wustl.edu 37 11 86152470 86152470 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 86152470 86152470 C T SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.1666 p.A556T 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 tier1 - - 73 0 0.00 98 22 18.33 MEOX2 0 genome.wustl.edu 37 7 15725824 15725824 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 15725824 15725824 G C SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.204 p.H68Q 0.991 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 40 0 0.00 62 5 7.46 METTL13 0 genome.wustl.edu 37 1 171752987 171752987 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 171752987 171752987 G T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.261 p.M87I 1.000 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 53 0 0.00 87 16 15.53 MFN1 0 genome.wustl.edu 37 3 179095183 179095183 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 179095183 179095183 G A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.1276 p.E426K 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 tier1 - - 47 0 0.00 107 16 13.01 MFSD4 0 genome.wustl.edu 37 1 205555336 205555336 + Splice_Site SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 205555336 205555336 G A SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known splice_site c.1149+1 e6+1 1.000 - - - no_errors MFSD4 HGNC ENSG00000174514 tier1 - - 33 0 0.00 38 4 9.30 MIF 0 genome.wustl.edu 37 22 24237106 24237106 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 24237106 24237106 G T SNP MIF ENST00000215754 human ensembl 74_37 +1 known nonsense c.256 p.E86* 1.000 pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf - no_errors MIF HGNC ENSG00000240972 18 0 0.00 30 3 9.09 MIR3613 0 genome.wustl.edu 37 13 50570574 50570574 + RNA DEL T T - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 50570574 50570574 T - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 29 0 0.00 35 6 14.63 MIR640 0 genome.wustl.edu 37 19 19545876 19545876 + RNA DEL C C - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 19545876 19545876 C - DEL MIR640 ENST00000385086 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR640 HGNC ENSG00000207821 tier1 38 0 0.00 50 11 18.03 MMP28 0 genome.wustl.edu 37 17 34122276 34122276 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 34122276 34122276 C T SNP MMP28 ENST00000587639 human ensembl 74_37 -1 known missense c.106 p.A36T 0.992 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 26 0 0.00 48 5 9.43 MROH8 0 genome.wustl.edu 37 20 35743674 35743674 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 35743674 35743674 C T SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.2437 p.V813I 0.836 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 tier1 - - 55 0 0.00 75 30 28.30 MS4A2 0 genome.wustl.edu 37 11 59856281 59856281 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 59856281 59856281 C G SNP MS4A2 ENST00000278888 human ensembl 74_37 +1 known missense c.43 p.Q15E 0.198 NULL pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 tier1 - - 36 0 0.00 45 4 8.16 MSH6 0 genome.wustl.edu 37 2 48026124 48026124 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 48026124 48026124 G C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.1002 p.K334N 1.000 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 54 0 0.00 68 6 8.11 MTFR1 0 genome.wustl.edu 37 8 66621257 66621257 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 66621257 66621257 T A SNP MTFR1 ENST00000262146 human ensembl 74_37 +1 known missense c.980 p.I327N 1.000 NULL pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 55 0 0.00 87 5 5.38 MTFR1 0 genome.wustl.edu 37 8 66621258 66621258 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 66621258 66621258 T G SNP MTFR1 ENST00000262146 human ensembl 74_37 +1 known missense c.981 p.I327M 1.000 NULL pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 58 0 0.00 88 5 5.38 MTPAP 0 genome.wustl.edu 37 10 30658036 30658036 + RNA SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 30658036 30658036 C A SNP MTPAP ENST00000471055 human ensembl 74_37 -1 known rna NULL NULL 0.856 - - - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 114 0 0.00 175 14 7.41 MUC16 0 genome.wustl.edu 37 19 8976800 8976800 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 8976800 8976800 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.42266 p.S14089* 0.001 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 51 0 0.00 73 4 5.19 MUC4 0 genome.wustl.edu 37 3 195480039 195480039 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 195480039 195480039 C A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15391 p.G5131C 0.892 smart_EG-like_dom,pfscan_EG-like_dom 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 45 0 0.00 71 4 5.33 MUC5B 0 genome.wustl.edu 37 11 1263696 1263696 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 1263696 1263696 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.5595 p.Q1865H 0.510 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 47 0 0.00 47 4 7.84 MXI1 0 genome.wustl.edu 37 10 112045705 112045705 + RNA DEL A A - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 112045705 112045705 A - DEL MXI1 ENST00000485566 human ensembl 74_37 +1 known rna NULL NULL 0.827 - - - no_errors MXI1 HGNC ENSG00000119950 tier1 17 0 0.00 29 4 12.12 MYO19 0 genome.wustl.edu 37 17 34852182 34852182 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 34852182 34852182 G T SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known silent c.2826 p.P942 0.028 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 tier1 - - 50 0 0.00 65 4 5.80 MYO1B 0 genome.wustl.edu 37 2 192267361 192267361 + Nonsense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 192267361 192267361 C T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known nonsense c.2473 p.R825* 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 23 0 0.00 111 12 9.68 NALCN 0 genome.wustl.edu 37 13 101717782 101717782 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 101717782 101717782 G T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.4578 p.G1526 0.004 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 27 0 0.00 29 2 6.45 NCOA2 0 genome.wustl.edu 37 8 71078930 71078930 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 71078930 71078930 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.601 p.R201W 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 68 0 0.00 135 19 12.34 NEDD1 0 genome.wustl.edu 37 12 97330537 97330537 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 97330537 97330537 C A SNP NEDD1 ENST00000557644 human ensembl 74_37 +1 known missense c.889 p.H297N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NEDD1 HGNC ENSG00000139350 tier1 - - 34 0 0.00 73 4 5.19 NEMF 0 genome.wustl.edu 37 14 50251372 50251372 + Silent SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 50251372 50251372 C G SNP NEMF ENST00000298310 human ensembl 74_37 -1 known silent c.3213 p.L1071 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 tier1 - - 42 0 0.00 76 5 6.17 NEUROD4 0 genome.wustl.edu 37 12 55421005 55421005 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 55421005 55421005 G T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.782 p.G261V 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 55 0 0.00 52 4 7.14 NFXL1 0 genome.wustl.edu 37 4 47912867 47912867 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 47912867 47912867 G T SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.380 p.T127K 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 27 0 0.00 29 2 6.45 NHSL1 0 genome.wustl.edu 37 6 138753852 138753852 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 138753852 138753852 C T SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known missense c.1642 p.G548S 0.004 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 17 0 0.00 13 7 35.00 NIN 0 genome.wustl.edu 37 14 51239693 51239693 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 51239693 51239693 G T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.787 p.Q263K 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 30 0 0.00 70 4 5.41 NIPAL2 0 genome.wustl.edu 37 8 99217371 99217371 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 99217371 99217371 G C SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known missense c.759 p.I253M 0.998 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 tier1 - - 50 0 0.00 100 13 11.50 NLRP1 0 genome.wustl.edu 37 17 5424238 5424238 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 5424238 5424238 G T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.3878 p.S1293Y 0.025 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 26 0 0.00 36 2 5.26 NME6 0 genome.wustl.edu 37 3 48336237 48336237 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 48336237 48336237 G T SNP NME6 ENST00000421967 human ensembl 74_37 -1 known missense c.475 p.Q159K 1.000 superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 tier1 - - 14 0 0.00 17 4 19.05 NOTCH3 0 genome.wustl.edu 37 19 15302440 15302440 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 15302440 15302440 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.831 p.E277 0.998 pirsf_Notch,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 rs145049433 - 46 0 0.00 57 8 12.31 NPAS4 0 genome.wustl.edu 37 11 66191995 66191995 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 66191995 66191995 C A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.1634 p.P545H 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 9 0 0.00 28 2 6.67 NRG1 0 genome.wustl.edu 37 8 32607085 32607085 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 32607085 32607085 T G SNP NRG1 ENST00000356819 human ensembl 74_37 +1 known missense c.698 p.L233R 1.000 NULL 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 - - 15 0 0.00 28 11 28.21 NRK 0 genome.wustl.edu 37 X 105153087 105153087 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 105153087 105153087 T G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1457 p.V486G 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 15 0 0.00 15 8 34.78 NRXN3 0 genome.wustl.edu 37 14 80328055 80328055 + Silent SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 80328055 80328055 G C SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known silent c.2934 p.V978 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 32 0 0.00 49 9 15.52 NUP188 0 genome.wustl.edu 37 9 131720321 131720321 + Silent SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 131720321 131720321 C A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.360 p.A120 0.999 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 39 0 0.00 58 4 6.45 OFD1 0 genome.wustl.edu 37 X 13767593 13767593 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 13767593 13767593 T G SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.876 p.D292E 0.970 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 tier1 - - 46 0 0.00 50 27 35.06 OR10AG1 0 genome.wustl.edu 37 11 55735082 55735082 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 55735082 55735082 T G SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.858 p.K286N 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 tier1 - - 33 0 0.00 76 9 10.59 OR10Z1 0 genome.wustl.edu 37 1 158576639 158576639 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 158576639 158576639 T G SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.411 p.N137K 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 27 0 0.00 33 8 19.51 OR51G1 0 genome.wustl.edu 37 11 4944886 4944886 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 4944886 4944886 G A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.684 p.L228 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 27 0 0.00 18 7 28.00 OR52A4 0 genome.wustl.edu 37 11 5142536 5142536 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 5142536 5142536 G A SNP OR52A4 ENST00000481634 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OR52A4 HGNC ENSG00000205494 tier1 - - 31 0 0.00 14 3 17.65 OR52E2 0 genome.wustl.edu 37 11 5080750 5080750 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 5080750 5080750 C T SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known silent c.108 p.V36 0.988 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 - - 44 0 0.00 44 8 15.38 OR5M3 0 genome.wustl.edu 37 11 56237478 56237478 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 56237478 56237478 A C SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.496 p.F166V 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 - - 64 0 0.00 65 11 14.47 OR6M1 0 genome.wustl.edu 37 11 123677011 123677011 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 123677011 123677011 G T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.47 p.P16Q 0.947 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 14 0 0.00 15 2 11.76 OR8U1 0 genome.wustl.edu 37 11 56143261 56143261 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 56143261 56143261 T A SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.162 p.S54R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 41 0 0.00 49 4 7.55 ORAI3 0 genome.wustl.edu 37 16 30964759 30964759 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 30964759 30964759 T A SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known missense c.482 p.L161H 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 tier1 - - 33 0 0.00 41 5 10.87 PADI3 0 genome.wustl.edu 37 1 17592157 17592157 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 17592157 17592157 T C SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.350 p.I117T 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 tier1 - - 49 0 0.00 38 19 33.33 PANK3 0 genome.wustl.edu 37 5 167988433 167988433 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 167988433 167988433 T A SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known missense c.901 p.I301F 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 tier1 rs77612793 - 52 0 0.00 65 8 10.96 PAPPA2 0 genome.wustl.edu 37 1 176564298 176564298 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 176564298 176564298 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1558 p.R520W 0.662 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 44 0 0.00 32 3 8.57 PARP3 0 genome.wustl.edu 37 3 51982404 51982404 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 51982404 51982404 G A SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known missense c.1531 p.E511K 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 tier1 - - 39 0 0.00 51 8 13.56 PBX1 0 genome.wustl.edu 37 1 164768988 164768988 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 164768988 164768988 G T SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.563 p.R188L 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 27 0 0.00 30 2 6.25 PCDH11Y 0 genome.wustl.edu 37 Y 4968285 4968285 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 Y 4968285 4968285 C A SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.2666 p.P889Q 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 - - 19 0 0.00 25 8 24.24 PCNT 0 genome.wustl.edu 37 21 47821471 47821471 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 47821471 47821471 G C SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.4798 p.E1600Q 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 25 0 0.00 26 7 21.21 PCSK5 0 genome.wustl.edu 37 9 78973464 78973464 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 78973464 78973464 G C SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.5209 p.A1737P 0.000 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 48 0 0.00 74 8 9.76 PCSK6 0 genome.wustl.edu 37 15 101971641 101971641 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 101971641 101971641 G T SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known silent c.538 p.R180 0.998 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 tier1 - - 41 0 0.00 60 5 7.69 PCSK7 0 genome.wustl.edu 37 11 117077812 117077812 + Nonsense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 117077812 117077812 C T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known nonsense c.1851 p.W617* 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 63 0 0.00 131 11 7.75 PDCD11 0 genome.wustl.edu 37 10 105185131 105185131 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 105185131 105185131 G T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.3154 p.V1052F 0.972 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 41 0 0.00 54 4 6.90 PDE9A 0 genome.wustl.edu 37 21 44195473 44195473 + RNA SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 44195473 44195473 G C SNP PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 - - 15 0 0.00 9 5 35.71 PDS5A 0 genome.wustl.edu 37 4 39900405 39900405 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 39900405 39900405 G T SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.1622 p.T541N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 44 0 0.00 70 4 5.41 PEAR1 0 genome.wustl.edu 37 1 156882694 156882694 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 156882694 156882694 G T SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known missense c.2342 p.W781L 0.999 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 tier1 - - 30 0 0.00 42 4 8.70 PEG10 0 genome.wustl.edu 37 7 94293534 94293534 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 94293534 94293534 G C SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.666 p.E222D 0.028 NULL pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 tier1 - - 26 0 0.00 35 8 18.60 PELP1 0 genome.wustl.edu 37 17 4594211 4594211 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 4594211 4594211 C G SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.392 p.W131S 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 tier1 - - 74 0 0.00 112 22 16.30 PHLDB2 0 genome.wustl.edu 37 3 111604363 111604363 + Nonsense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 111604363 111604363 C G SNP PHLDB2 ENST00000478922 human ensembl 74_37 +1 putative nonsense c.1439 p.S480* 0.001 NULL NULL - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 35 0 0.00 45 10 18.18 PIPOX 0 genome.wustl.edu 37 17 27382229 27382229 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 27382229 27382229 G T SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known missense c.956 p.C319F 1.000 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 tier1 - - 34 0 0.00 39 4 9.30 PITPNM2 0 genome.wustl.edu 37 12 123489971 123489971 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 123489971 123489971 C A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.768 p.K256N 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 39 0 0.00 49 11 18.33 PLCG2 0 genome.wustl.edu 37 16 81965160 81965160 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 81965160 81965160 G T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2640 p.Q880H 0.957 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 - - 46 0 0.00 47 4 7.84 PLEC 0 genome.wustl.edu 37 8 144995480 144995480 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 144995480 144995480 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8920 p.E2974K 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 rs199661077 - 30 0 0.00 84 8 8.70 PLSCR5 0 genome.wustl.edu 37 3 146311842 146311842 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 146311842 146311842 G C SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known missense c.318 p.I106M 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 27 0 0.00 52 4 7.14 PODXL2 0 genome.wustl.edu 37 3 127387367 127387367 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 127387367 127387367 G T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known silent c.1290 p.G430 0.998 pfam_CD34/Podocalyxin pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 22 0 0.00 36 5 12.20 POLH 0 genome.wustl.edu 37 6 43582040 43582040 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 43582040 43582040 G A SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.1888 p.E630K 1.000 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 tier1 - - 59 0 0.00 155 9 5.49 POLQ 0 genome.wustl.edu 37 3 121207908 121207908 + Silent SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 121207908 121207908 T C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.3870 p.R1290 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 21 0 0.00 27 5 15.62 PPP1R9A 0 genome.wustl.edu 37 7 94919602 94919602 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 94919602 94919602 C T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.3878 p.A1293V 0.001 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 25 0 0.00 34 4 10.53 PPP2R2A 0 genome.wustl.edu 37 8 26220325 26220325 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 26220325 26220325 G A SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.763 p.D255N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 tier1 - - 40 0 0.00 56 13 18.84 PPT2 0 genome.wustl.edu 37 6 32122851 32122854 + Frame_Shift_Del DEL GAGA GAGA - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 32122851 32122854 GAGA - DEL PPT2 ENST00000361568 human ensembl 74_37 +1 known frame_shift_del c.246_249 p.E84fs 0.455:0.517:0.541:0.539 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 tier1 40 0 0.00 51 15 22.73 PRDM10 0 genome.wustl.edu 37 11 129827739 129827739 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 129827739 129827739 G T SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.136 p.P46T 0.846 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 55 0 0.00 82 6 6.82 PRDM15 0 genome.wustl.edu 37 21 43287442 43287442 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 43287442 43287442 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.586 p.P196S 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 37 0 0.00 49 4 7.55 PRDM6 0 genome.wustl.edu 37 5 122435621 122435621 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 122435621 122435621 G T SNP PRDM6 ENST00000407847 human ensembl 74_37 +1 known missense c.865 p.A289S 0.988 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 25 0 0.00 34 4 10.53 PRKRA 0 genome.wustl.edu 37 2 179296885 179296885 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 179296885 179296885 G T SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known missense c.881 p.A294E 1.000 smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors PRKRA HGNC ENSG00000180228 tier1 - - 45 0 0.00 38 4 9.52 PRRT2 0 genome.wustl.edu 37 16 29824421 29824421 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 29824421 29824421 G T SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known nonsense c.46 p.E16* 0.416 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 tier1 - - 52 0 0.00 60 5 7.69 PRTG 0 genome.wustl.edu 37 15 55912219 55912219 + Frame_Shift_Del DEL G G - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 55912219 55912219 G - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3444 p.N1149fs 0.181 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 59 0 0.00 67 13 16.25 PSD2 0 genome.wustl.edu 37 5 139193041 139193041 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 139193041 139193041 C T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known silent c.519 p.C173 0.704 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 tier1 - - 45 0 0.00 46 8 14.81 PSIP1 0 genome.wustl.edu 37 9 15472611 15472612 + RNA INS - - A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 15472611 15472612 - A INS PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 20 0 0.00 33 7 17.50 PSME2 0 genome.wustl.edu 37 14 24612685 24612685 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 24612685 24612685 T C SNP PSME2 ENST00000216802 human ensembl 74_37 -1 known missense c.653 p.H218R 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME2 HGNC ENSG00000100911 tier1 - - 51 0 0.00 65 11 14.47 PTPRA 0 genome.wustl.edu 37 20 3005267 3005267 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 3005267 3005267 G T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.1647 p.K549N 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 68 0 0.00 51 4 7.27 PTPRD 0 genome.wustl.edu 37 9 8507340 8507340 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 8507340 8507340 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1638 p.N546K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 72 0 0.00 92 5 5.15 PTPRJ 0 genome.wustl.edu 37 11 48149344 48149344 + Frame_Shift_Del DEL T T - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 48149344 48149344 T - DEL PTPRJ ENST00000418331 human ensembl 74_37 +1 known frame_shift_del c.1106 p.F370fs 0.051 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 33 0 0.00 37 2 5.13 RANBP9 0 genome.wustl.edu 37 6 13632610 13632610 + Frame_Shift_Del DEL T T - TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 13632610 13632610 T - DEL RANBP9 ENST00000011619 human ensembl 74_37 -1 known frame_shift_del c.1939 p.M647fs 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 tier1 26 0 0.00 25 3 10.71 RC3H1 0 genome.wustl.edu 37 1 173933252 173933252 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 173933252 173933252 C G SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known missense c.1690 p.D564H 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 tier1 - - 68 0 0.00 111 28 20.14 RECK 0 genome.wustl.edu 37 9 36083446 36083446 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 36083446 36083446 C A SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.524 p.P175H 1.000 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 41 0 0.00 63 4 5.97 RELN 0 genome.wustl.edu 37 7 103338500 103338500 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 103338500 103338500 G T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.943 p.L315I 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 - - 38 0 0.00 43 8 15.69 RET 0 genome.wustl.edu 37 10 43601870 43601870 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 43601870 43601870 C A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.914 p.P305H 0.910 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like 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 28 0 0.00 38 2 5.00 RIPK4 0 genome.wustl.edu 37 21 43187118 43187118 + Silent SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 43187118 43187118 C G SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known silent c.84 p.V28 0.997 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_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 - - 20 0 0.00 17 5 22.73 RMDN3 0 genome.wustl.edu 37 15 41036287 41036287 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 41036287 41036287 G A SNP RMDN3 ENST00000260385 human ensembl 74_37 -1 known missense c.868 p.L290F 0.976 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 tier1 - - 35 0 0.00 33 4 10.81 RND2 0 genome.wustl.edu 37 17 41180521 41180521 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 41180521 41180521 G A SNP RND2 ENST00000544533 human ensembl 74_37 +1 known missense c.511 p.V171I 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC ENSG00000108830 tier1 - - 33 0 0.00 39 8 17.02 RNF17 0 genome.wustl.edu 37 13 25378525 25378525 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 25378525 25378525 G T SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known silent c.2049 p.T683 0.999 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 31 0 0.00 63 4 5.97 RUNDC3B 0 genome.wustl.edu 37 7 87436688 87436688 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 87436688 87436688 G T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.1008 p.L336 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 48 0 0.00 76 4 5.00 SAMSN1 0 genome.wustl.edu 37 21 15882762 15882762 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 15882762 15882762 C T SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.430 p.D144N 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 tier1 - - 56 0 0.00 70 7 9.09 SCAF1 0 genome.wustl.edu 37 19 50155769 50155769 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 50155769 50155769 G A SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.2123 p.G708D 0.911 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 tier1 - - 36 0 0.00 51 20 28.17 SCN10A 0 genome.wustl.edu 37 3 38830463 38830463 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 38830463 38830463 G T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.454 p.L152I 0.068 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 48 0 0.00 73 4 5.19 SDCBP2 0 genome.wustl.edu 37 20 1299025 1299025 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 20 1299025 1299025 C A SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.162 p.M54I 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 12 0 0.00 13 2 13.33 SEMA4F 0 genome.wustl.edu 37 2 74901691 74901691 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 74901691 74901691 T A SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.889 p.C297S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 tier1 - - 25 0 0.00 27 7 20.59 SF3B1 0 genome.wustl.edu 37 2 198268376 198268376 + Nonsense_Mutation SNP A A T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 198268376 198268376 A T SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known nonsense c.1652 p.L551* 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 41 0 0.00 68 9 11.69 SH2D4A 0 genome.wustl.edu 37 8 19214753 19214753 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 19214753 19214753 G T SNP SH2D4A ENST00000265807 human ensembl 74_37 +1 known missense c.553 p.A185S 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 tier1 - - 36 0 0.00 68 4 5.56 SHARPIN 0 genome.wustl.edu 37 8 145154264 145154264 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 145154264 145154264 C G SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known missense c.838 p.E280Q 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 tier1 - - 40 0 0.00 112 13 10.40 SKIV2L 0 genome.wustl.edu 37 6 31931788 31931788 + Silent SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 31931788 31931788 G A SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known silent c.1746 p.Q582 1.000 superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 tier1 - - 31 0 0.00 50 9 15.25 SKIV2L 0 genome.wustl.edu 37 6 31937096 31937096 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 31937096 31937096 G T SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known nonsense c.3439 p.E1147* 1.000 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 19 0 0.00 74 4 5.13 SLC22A13 0 genome.wustl.edu 37 3 38318435 38318435 + Nonsense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 38318435 38318435 C A SNP SLC22A13 ENST00000311856 human ensembl 74_37 +1 known nonsense c.1379 p.S460* 0.992 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 tier1 - - 18 0 0.00 27 9 25.00 SLC25A53 0 genome.wustl.edu 37 X 103349671 103349671 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 103349671 103349671 C T SNP SLC25A53 ENST00000357421 human ensembl 74_37 -1 known silent c.270 p.L90 0.991 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 SLC25A53 HGNC ENSG00000176274 tier1 - - 38 0 0.00 33 10 23.26 SLC5A2 0 genome.wustl.edu 37 16 31497501 31497501 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 31497501 31497501 T C SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known missense c.479 p.F160S 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 tier1 - - 36 0 0.00 40 8 16.67 SLC6A5 0 genome.wustl.edu 37 11 20649547 20649547 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 20649547 20649547 C A SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.1417 p.Q473K 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 28 0 0.00 44 3 6.38 SLC6A7 0 genome.wustl.edu 37 5 149580709 149580709 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 149580709 149580709 G T SNP SLC6A7 ENST00000230671 human ensembl 74_37 +1 known nonsense c.781 p.G261* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 25 0 0.00 37 2 5.13 SLC9A9-AS2 0 genome.wustl.edu 37 3 143100997 143100997 + RNA SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 143100997 143100997 G C SNP SLC9A9-AS2 ENST00000490153 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SLC9A9-AS2 HGNC ENSG00000244493 tier1 - - 30 0 0.00 43 4 8.51 SMAD4 0 genome.wustl.edu 37 18 48575671 48575671 + Nonsense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 18 48575671 48575671 C G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known nonsense c.431 p.S144* 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 25 0 0.00 45 8 15.09 SMARCA2 0 genome.wustl.edu 37 9 2159836 2159836 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 2159836 2159836 G A SNP SMARCA2 ENST00000302401 human ensembl 74_37 +1 known missense c.26 p.R9H 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 48 0 0.00 63 4 5.97 SMARCC2 0 genome.wustl.edu 37 12 56558481 56558481 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 56558481 56558481 G T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.3174 p.P1058 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 tier1 - - 39 0 0.00 47 4 7.84 SMC5 0 genome.wustl.edu 37 9 72892250 72892250 + Silent SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 72892250 72892250 A G SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known silent c.405 p.V135 0.805 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 tier1 - - 82 0 0.00 109 12 9.92 SNORA26 0 genome.wustl.edu 37 4 53579529 53579529 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 53579529 53579529 G A SNP SNORA26 ENST00000391286 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA26 HGNC ENSG00000212588 tier1 - - 70 0 0.00 88 15 14.56 SOCS6 0 genome.wustl.edu 37 18 67992971 67992971 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 18 67992971 67992971 G C SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known missense c.1067 p.R356T 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 tier1 - - 48 0 0.00 58 8 12.12 SPAG6 0 genome.wustl.edu 37 10 22690089 22690089 + Splice_Site SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 22690089 22690089 G C SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known splice_site c.1426-1 e9-1 1.000 - - - no_errors SPAG6 HGNC ENSG00000077327 tier1 - - 33 0 0.00 54 12 17.91 SPARCL1 0 genome.wustl.edu 37 4 88414816 88414816 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 88414816 88414816 T C SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.1136 p.Y379C 0.054 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 tier1 - - 20 0 0.00 31 6 16.22 SPARCL1 0 genome.wustl.edu 37 4 88420738 88420738 + Splice_Site SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 88420738 88420738 C A SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.995 - - - no_errors SPARCL1 HGNC ENSG00000152583 tier1 - - 58 0 0.00 51 11 17.74 SPATA9 0 genome.wustl.edu 37 5 94994532 94994532 + Missense_Mutation SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 94994532 94994532 T C SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.560 p.E187G 0.001 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 tier1 - - 29 0 0.00 30 6 16.67 SPATS1 0 genome.wustl.edu 37 6 44329688 44329688 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 44329688 44329688 C T SNP SPATS1 ENST00000288390 human ensembl 74_37 +1 known missense c.533 p.S178L 0.928 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 tier1 - - 47 0 0.00 49 15 23.44 SPEF2 0 genome.wustl.edu 37 5 35709149 35709149 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 35709149 35709149 C A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2765 p.P922Q 0.998 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 29 0 0.00 61 4 6.15 SPEF2 0 genome.wustl.edu 37 5 35795828 35795828 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 35795828 35795828 T G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.4761 p.D1587E 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 33 0 0.00 77 10 11.49 SPG20 0 genome.wustl.edu 37 13 36900829 36900829 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 13 36900829 36900829 C A SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1171 p.D391Y 0.994 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 tier1 - - 33 0 0.00 30 8 21.05 SRGAP2-AS1 0 genome.wustl.edu 37 1 206553834 206553835 + RNA INS - - T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 206553834 206553835 0 T INS SRGAP2-AS1 ENST00000450872 human ensembl 74_37 -1 known rna NULL NULL 0.918:0.853 - - - no_errors SRGAP2-AS1 HGNC ENSG00000233501 30 0 0.00 91 8 8.08 SRPK3 0 genome.wustl.edu 37 X 153047267 153047267 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 153047267 153047267 G T SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known missense c.369 p.E123D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 tier1 - - 42 0 0.00 60 4 6.25 SRRM5 0 genome.wustl.edu 37 19 44116715 44116715 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 44116715 44116715 C A SNP SRRM5 ENST00000526798 human ensembl 74_37 +1 known missense c.487 p.H163N 0.024 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 65 0 0.00 62 4 6.06 STK32A 0 genome.wustl.edu 37 5 146730628 146730628 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 146730628 146730628 G C SNP STK32A ENST00000397936 human ensembl 74_37 +1 known missense c.473 p.G158A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32A HGNC ENSG00000169302 tier1 - - 22 0 0.00 36 6 14.29 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48906575 48906575 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 48906575 48906575 G C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.3543 p.E1181D 1.000 pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 56 0 0.00 90 13 12.62 SYCP1 0 genome.wustl.edu 37 1 115537701 115537701 + RNA SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 115537701 115537701 T G SNP SYCP1 ENST00000477590 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 31 0 0.00 55 12 17.91 SYNE3 0 genome.wustl.edu 37 14 95906111 95906111 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 14 95906111 95906111 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2084 p.A695V 0.480 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 42 0 0.00 82 11 11.83 TANC2 0 genome.wustl.edu 37 17 61482569 61482569 + Silent SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 61482569 61482569 C A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known silent c.3196 p.R1066 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 24 0 0.00 33 2 5.71 TANGO6 0 genome.wustl.edu 37 16 68912159 68912159 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 68912159 68912159 C A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.1270 p.L424I 0.973 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 - - 80 0 0.00 81 20 19.80 TBC1D12 0 genome.wustl.edu 37 10 96163148 96163148 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 96163148 96163148 G T SNP TBC1D12 ENST00000225235 human ensembl 74_37 +1 known missense c.778 p.A260S 0.834 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 20 0 0.00 29 4 12.12 TBX20 0 genome.wustl.edu 37 7 35289630 35289630 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 35289630 35289630 C G SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.313 p.E105Q 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 - - 34 0 0.00 47 10 17.54 TCF7 0 genome.wustl.edu 37 5 133473797 133473797 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 133473797 133473797 C T SNP TCF7 ENST00000517741 human ensembl 74_37 +1 known missense c.197 p.T66M 0.995 NULL NULL - no_errors TCF7 HGNC ENSG00000081059 60 0 0.00 56 3 5.00 TECTA 0 genome.wustl.edu 37 11 120980130 120980130 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 120980130 120980130 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.409 p.A137T 0.967 smart_Nidogen_extracell_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 47 0 0.00 48 4 7.55 TENM1 0 genome.wustl.edu 37 X 123838994 123838994 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 123838994 123838994 A G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.884 p.L295P 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 38 0 0.00 46 12 20.69 TET2 0 genome.wustl.edu 37 4 106155750 106155750 + Silent SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 106155750 106155750 C A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known silent c.651 p.S217 0.987 NULL NULL - no_errors TET2 HGNC ENSG00000168769 41 0 0.00 57 3 5.00 TFPI 0 genome.wustl.edu 37 2 188331737 188331737 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 188331737 188331737 T G SNP TFPI ENST00000233156 human ensembl 74_37 -1 known missense c.841 p.I281L 1.000 pirsf_Prot_inhib_I2_TFPI 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 TFPI HGNC ENSG00000003436 tier1 - - 44 0 0.00 102 20 16.39 TIAM1 0 genome.wustl.edu 37 21 32537327 32537327 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 32537327 32537327 G T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.2943 p.T981 0.196 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 22 0 0.00 43 4 8.51 TIGIT 0 genome.wustl.edu 37 3 114026796 114026796 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 114026796 114026796 G A SNP TIGIT ENST00000383671 human ensembl 74_37 +1 known missense c.553 p.G185R 0.047 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIGIT HGNC ENSG00000181847 tier1 - - 31 0 0.00 50 5 9.09 TLN1 0 genome.wustl.edu 37 9 35700259 35700259 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 35700259 35700259 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6589 p.R2197C 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 29 0 0.00 39 5 11.36 TMEM132C 0 genome.wustl.edu 37 12 129190255 129190255 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 129190255 129190255 G T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known silent c.2742 p.V914 0.993 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 52 0 0.00 40 11 21.15 TMEM87A 0 genome.wustl.edu 37 15 42560178 42560178 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 42560178 42560178 G T SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known missense c.258 p.S86R 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 26 0 0.00 57 4 6.56 TMEM91 0 genome.wustl.edu 37 19 41889665 41889665 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 41889665 41889665 G A SNP TMEM91 ENST00000392002 human ensembl 74_37 +1 known missense c.406 p.A136T 0.986 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 tier1 - - 51 0 0.00 73 11 11.96 TMTC1 0 genome.wustl.edu 37 12 29659767 29659767 + RNA SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 29659767 29659767 C T SNP TMTC1 ENST00000319685 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 47 0 0.00 75 5 6.25 TNIP1 0 genome.wustl.edu 37 5 150410286 150410286 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 5 150410286 150410286 C A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1899 p.E633D 0.047 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 27 0 0.00 36 2 5.26 TNXB 0 genome.wustl.edu 37 6 32030234 32030234 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 32030234 32030234 G C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6868 p.P2290A 0.002 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 35 0 0.00 53 5 8.62 TP53 0 genome.wustl.edu 37 17 7577017 7577017 + Splice_Site SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 7577017 7577017 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.919+2 e7+2 0.853 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 55 0 0.00 53 38 41.76 TPH1 0 genome.wustl.edu 37 11 18057536 18057536 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 18057536 18057536 G C SNP TPH1 ENST00000341556 human ensembl 74_37 -1 known missense c.271 p.L91V 1.000 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 tier1 - - 31 0 0.00 49 10 16.95 TPP1 0 genome.wustl.edu 37 11 6638054 6638054 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 6638054 6638054 G T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known missense c.724 p.Q242K 0.961 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 tier1 - - 61 0 0.00 58 4 6.45 TRIM14 0 genome.wustl.edu 37 9 100857153 100857153 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 100857153 100857153 C T SNP TRIM14 ENST00000341469 human ensembl 74_37 -1 known silent c.696 p.K232 0.984 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM14 HGNC ENSG00000106785 tier1 - - 97 0 0.00 90 23 20.35 TRPC6 0 genome.wustl.edu 37 11 101353851 101353851 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 11 101353851 101353851 C T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.1339 p.A447T 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 46 0 0.00 57 3 5.00 TRPS1 0 genome.wustl.edu 37 8 116617053 116617053 + Silent SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 116617053 116617053 G C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.1143 p.S381 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 44 0 0.00 68 8 10.53 TSGA10 0 genome.wustl.edu 37 2 99720580 99720580 + Missense_Mutation SNP A A G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 99720580 99720580 A G SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.461 p.L154P 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 36 0 0.00 57 10 14.93 TSPAN11 0 genome.wustl.edu 37 12 31135479 31135479 + Missense_Mutation SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 12 31135479 31135479 G A SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known missense c.469 p.G157R 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 tier1 - - 42 0 0.00 91 8 8.08 TSR1 0 genome.wustl.edu 37 17 2237952 2237952 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 2237952 2237952 C A SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.795 p.E265D 0.991 pfam_AARP2CN,smart_AARP2CN pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 21 0 0.00 38 2 5.00 TST 0 genome.wustl.edu 37 22 37407109 37407109 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 22 37407109 37407109 G T SNP TST ENST00000249042 human ensembl 74_37 -1 known missense c.853 p.P285T 0.997 superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 17 0 0.00 31 2 6.06 TTYH2 0 genome.wustl.edu 37 17 72233537 72233537 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 72233537 72233537 C G SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.519 p.F173L 0.993 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 tier1 - - 26 0 0.00 36 5 12.20 TXLNB 0 genome.wustl.edu 37 6 139564385 139564385 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 6 139564385 139564385 G T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1333 p.R445S 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 17 0 0.00 30 2 6.25 UBAP2L 0 genome.wustl.edu 37 1 154241426 154241426 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 154241426 154241426 G T SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.3164 p.G1055V 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 38 0 0.00 68 4 5.56 UBE4B 0 genome.wustl.edu 37 1 10132108 10132108 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 10132108 10132108 G C SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.47 p.R16P 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 tier1 - - 35 0 0.00 43 7 14.00 UBR4 0 genome.wustl.edu 37 1 19510612 19510612 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 1 19510612 19510612 G T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.1996 p.R666 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 18 0 0.00 30 2 6.25 UCK1 0 genome.wustl.edu 37 9 134404652 134404652 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 134404652 134404652 G T SNP UCK1 ENST00000372211 human ensembl 74_37 -1 known missense c.386 p.P129Q 0.018 pfam_PRK/URK,superfamily_P-loop_NTPase pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 28 0 0.00 40 4 9.09 UHRF2 0 genome.wustl.edu 37 9 6506918 6506918 + RNA SNP G G A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 6506918 6506918 G A SNP UHRF2 ENST00000485617 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF2 HGNC ENSG00000147854 tier1 - - 19 0 0.00 36 9 20.00 URB1 0 genome.wustl.edu 37 21 33687246 33687246 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 21 33687246 33687246 C T SNP URB1 ENST00000382751 human ensembl 74_37 -1 known missense c.6799 p.A2267T 0.000 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 tier1 - - 27 0 0.00 35 4 10.26 VPS18 0 genome.wustl.edu 37 15 41192668 41192668 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 15 41192668 41192668 G T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.1652 p.G551V 1.000 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 32 0 0.00 34 3 8.11 VPS8 0 genome.wustl.edu 37 3 184675247 184675247 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 184675247 184675247 C A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.3121 p.P1041T 0.874 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 tier1 - - 51 0 0.00 72 4 5.26 VWA3A 0 genome.wustl.edu 37 16 22159581 22159581 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 16 22159581 22159581 G T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known nonsense c.2938 p.E980* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 61 0 0.00 53 4 7.02 WASH6P 0 genome.wustl.edu 37 X 155252161 155252161 + RNA SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 X 155252161 155252161 G T SNP WASH6P ENST00000340131 human ensembl 74_37 +1 known rna NULL NULL 0.958 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 48 0 0.00 94 12 11.32 WDFY3 0 genome.wustl.edu 37 4 85687071 85687071 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 85687071 85687071 G T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.5080 p.L1694I 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 36 0 0.00 61 4 6.15 WDFY3 0 genome.wustl.edu 37 4 85660182 85660183 + Frame_Shift_Ins INS - - T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 85660182 85660183 0 T INS WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_ins c.6555_6554 p.Y2185fs 1.000:1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 58 0 0.00 109 10 8.40 WDFY4 0 genome.wustl.edu 37 10 49988153 49988153 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 49988153 49988153 G T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.3565 p.G1189C 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 18 0 0.00 28 4 12.50 WDR17 0 genome.wustl.edu 37 4 177071685 177071685 + Missense_Mutation SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 177071685 177071685 C T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.2317 p.L773F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 40 0 0.00 66 10 13.16 XIRP1 0 genome.wustl.edu 37 3 39225951 39225951 + Silent SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 39225951 39225951 G T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.4986 p.S1662 0.135 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 - - 50 0 0.00 76 4 5.00 XIRP2 0 genome.wustl.edu 37 2 168105269 168105269 + Missense_Mutation SNP A A C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 168105269 168105269 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7367 p.K2456T 0.002 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 49 0 0.00 40 7 14.89 XIRP2 0 genome.wustl.edu 37 2 168115797 168115797 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 2 168115797 168115797 G T SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2840 p.R947I 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 33 0 0.00 37 4 9.76 ZBTB49 0 genome.wustl.edu 37 4 4304045 4304045 + Nonsense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 4 4304045 4304045 C G SNP ZBTB49 ENST00000337872 human ensembl 74_37 +1 known nonsense c.482 p.S161* 0.078 NULL 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 ZBTB49 HGNC ENSG00000168826 tier1 - - 25 0 0.00 38 6 13.64 ZCCHC6 0 genome.wustl.edu 37 9 88924479 88924479 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 88924479 88924479 C A SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.3481 p.G1161C 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 - - 39 0 0.00 65 4 5.80 ZFP28 0 genome.wustl.edu 37 19 57066294 57066294 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 57066294 57066294 T A SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.2140 p.S714T 0.034 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 ZFP28 HGNC ENSG00000196867 tier1 - - 30 0 0.00 25 19 43.18 ZNF117 0 genome.wustl.edu 37 7 64439685 64439685 + Missense_Mutation SNP T T G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 64439685 64439685 T G SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.264 p.E88D 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 tier1 - - 26 0 0.00 60 11 15.49 ZNF22 0 genome.wustl.edu 37 10 45498857 45498857 + Nonsense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 45498857 45498857 C G SNP ZNF22 ENST00000298299 human ensembl 74_37 +1 known nonsense c.41 p.S14* 0.949 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ENSG00000165512 tier1 - - 43 0 0.00 48 8 14.29 ZNF253 0 genome.wustl.edu 37 19 20003455 20003455 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 20003455 20003455 C A SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.1399 p.L467I 0.048 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 ZNF253 HGNC ENSG00000256771 tier1 - - 46 0 0.00 39 4 9.30 ZNF277 0 genome.wustl.edu 37 7 111982780 111982780 + Missense_Mutation SNP T T A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 111982780 111982780 T A SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known missense c.1349 p.L450Q 0.003 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 tier1 - - 35 0 0.00 44 11 20.00 ZNF33A 0 genome.wustl.edu 37 10 38343841 38343841 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 38343841 38343841 G T SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.807 p.L269F 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 ZNF33A HGNC ENSG00000189180 17 0 0.00 76 4 5.00 ZNF445 0 genome.wustl.edu 37 3 44488954 44488954 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 3 44488954 44488954 G T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.2209 p.P737T 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 17 0 0.00 38 2 5.00 ZNF483 0 genome.wustl.edu 37 9 114303963 114303963 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 9 114303963 114303963 G T SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known nonsense c.748 p.E250* 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 18 0 0.00 37 4 9.76 ZNF517 0 genome.wustl.edu 37 8 146029026 146029026 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 8 146029026 146029026 G T SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known nonsense c.34 p.E12* 0.567 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 ZNF517 HGNC ENSG00000197363 29 0 0.00 60 4 6.25 ZNF587B 0 genome.wustl.edu 37 19 58352658 58352658 + Missense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 58352658 58352658 C G SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.616 p.P206A 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 ZNF587B HGNC ENSG00000269343 tier1 - - 61 0 0.00 91 17 15.60 ZNF624 0 genome.wustl.edu 37 17 16527822 16527822 + Missense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 17 16527822 16527822 G T SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.378 p.D126E 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF624 HGNC ENSG00000197566 tier1 - - 60 0 0.00 66 4 5.71 ZNF708 0 genome.wustl.edu 37 19 21493355 21493355 + Silent SNP C C T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 21493355 21493355 C T SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known silent c.78 p.Q26 0.019 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF708 HGNC ENSG00000182141 tier1 - - 56 0 0.00 79 17 17.71 ZNF783 0 genome.wustl.edu 37 7 148978697 148978697 + Missense_Mutation SNP C C A TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 7 148978697 148978697 C A SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.904 p.P302T 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 21 0 0.00 35 4 10.26 ZNF880 0 genome.wustl.edu 37 19 52887244 52887244 + Silent SNP T T C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 19 52887244 52887244 T C SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known silent c.411 p.P137 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 53 0 0.00 94 7 6.93 ZSWIM8 0 genome.wustl.edu 37 10 75549245 75549245 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 456e2823-cc87-4c9d-9b2a-0f64ca6dc37f 3915e0c1-2ad5-46d6-ba8c-adc6eebb9946 10 75549245 75549245 G C SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.578 p.G193A 1.000 pfscan_Znf_SWIM pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 - - 39 0 0.00 29 9 23.68