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 ABCA8 0 genome.wustl.edu 37 17 66871852 66871852 + Silent SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 66871852 66871852 T G SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.4393 p.R1465 0.642 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 tier1 - - 61 0 0.00 23 19 45.24 ACADS 0 genome.wustl.edu 37 12 121176101 121176101 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 121176101 121176101 G T SNP ACADS ENST00000242592 human ensembl 74_37 +1 known missense c.643 p.V215F 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 84 0 0.00 76 4 5.00 ACSS3 0 genome.wustl.edu 37 12 81472208 81472208 + Splice_Site SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 81472208 81472208 G T SNP ACSS3 ENST00000261206 human ensembl 74_37 +1 novel splice_site c.308+1 e1+1 0.018 - - - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 46 0 0.00 30 4 11.76 ADAM29 0 genome.wustl.edu 37 4 175897651 175897651 + Silent SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 175897651 175897651 T G SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known silent c.975 p.T325 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM29 HGNC ENSG00000168594 tier1 - - 37 0 0.00 7 18 72.00 ADAM29 0 genome.wustl.edu 37 4 175896934 175896934 + Missense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 175896934 175896934 G C SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.258 p.Q86H 0.888 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM29 HGNC ENSG00000168594 41 0 0.00 28 2 6.67 ADAMTS1 0 genome.wustl.edu 37 21 28216841 28216841 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 28216841 28216841 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.433 p.V145M 0.999 pfam_Peptidase_M12B_N 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_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 43 0 0.00 18 2 10.00 ADCY5 0 genome.wustl.edu 37 3 123049811 123049811 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 123049811 123049811 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.1571 p.S524L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 tier1 - - 68 0 0.00 44 26 37.14 ADCY8 0 genome.wustl.edu 37 8 132052057 132052057 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 132052057 132052057 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.523 p.L175V 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 55 0 0.00 63 14 18.18 AEBP2 0 genome.wustl.edu 37 12 19653105 19653105 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 19653105 19653105 G T SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known missense c.1249 p.A417S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 45 0 0.00 63 4 5.97 AGGF1 0 genome.wustl.edu 37 5 76331536 76331536 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 76331536 76331536 A G SNP AGGF1 ENST00000312916 human ensembl 74_37 +1 known missense c.484 p.R162G 0.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 63 0 0.00 23 2 8.00 AKAP11 0 genome.wustl.edu 37 13 42872778 42872779 + Frame_Shift_Del DEL AC AC - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 42872778 42872779 AC - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.461_462 p.T155fs 1.000:0.974 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 46 0 0.00 24 2 7.69 AKAP17A 0 genome.wustl.edu 37 X 1712481 1712481 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 1712481 1712481 G T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known silent c.126 p.P42 0.900 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 tier1 - - 115 0 0.00 51 4 7.27 ANK3 0 genome.wustl.edu 37 10 62023736 62023736 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 62023736 62023736 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.556 p.D186N 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 32 0 0.00 29 2 6.45 ANKRD20A11P 0 genome.wustl.edu 37 21 15342346 15342346 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 15342346 15342346 C A SNP ANKRD20A11P ENST00000429521 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 - - 160 0 0.00 80 39 32.77 ANKRD30A 0 genome.wustl.edu 37 10 37505290 37505290 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 37505290 37505290 A C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2883 p.K961N 0.146 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 62 0 0.00 36 27 42.86 ANKRD42 0 genome.wustl.edu 37 11 82909574 82909574 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 82909574 82909574 G T SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.112 p.D38Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 tier1 - - 72 0 0.00 57 4 6.56 ANO9 0 genome.wustl.edu 37 11 428561 428561 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 428561 428561 C T SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1099 p.V367M 0.007 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 tier1 - - 44 0 0.00 34 4 10.53 APBA2 0 genome.wustl.edu 37 15 29346366 29346366 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 29346366 29346366 G T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.279 p.E93D 0.997 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 56 0 0.00 48 4 7.69 APLF 0 genome.wustl.edu 37 2 68805073 68805073 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 68805073 68805073 G T SNP APLF ENST00000303795 human ensembl 74_37 +1 known missense c.1455 p.W485C 1.000 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 77 0 0.00 61 4 6.15 APOL3 0 genome.wustl.edu 37 22 36538062 36538062 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 36538062 36538062 G T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.395 p.T132K 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 tier1 - - 25 0 0.00 15 3 16.67 ARF1 0 genome.wustl.edu 37 1 228285661 228285661 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 228285661 228285661 G A SNP ARF1 ENST00000272102 human ensembl 74_37 +1 known missense c.493 p.G165R 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 tier1 - - 50 0 0.00 38 11 22.45 ARHGAP5 0 genome.wustl.edu 37 14 32561644 32561644 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 32561644 32561644 G T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1769 p.S590I 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 28 0 0.00 28 4 12.50 ASB16-AS1 0 genome.wustl.edu 37 17 42253965 42253965 + RNA SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 42253965 42253965 C T SNP ASB16-AS1 ENST00000585457 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB16-AS1 HGNC ENSG00000267080 tier1 - - 27 0 0.00 17 3 15.00 ASIC1 0 genome.wustl.edu 37 12 50474485 50474485 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 50474485 50474485 G T SNP ASIC1 ENST00000228468 human ensembl 74_37 +1 known missense c.1410 p.R470S 0.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 tier1 - - 69 0 0.00 42 4 8.70 ASPM 0 genome.wustl.edu 37 1 197074012 197074012 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 197074012 197074012 G T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.4369 p.H1457N 0.067 superfamily_ARM-type_fold,superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 26 0 0.00 32 2 5.88 ASXL1 0 genome.wustl.edu 37 20 31022853 31022853 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 31022853 31022853 C A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.2338 p.Q780K 0.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 19 0 0.00 35 3 7.89 ATM 0 genome.wustl.edu 37 11 108155036 108155036 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 108155036 108155036 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.3829 p.E1277* 0.946 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 78 0 0.00 54 4 6.90 ATP5F1 0 genome.wustl.edu 37 1 112003600 112003600 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 112003600 112003600 C T SNP ATP5F1 ENST00000369722 human ensembl 74_37 +1 known missense c.755 p.A252V 1.000 NULL pfam_ATPase_B_chain/sub_B/MI25 - no_errors ATP5F1 HGNC ENSG00000116459 tier1 - - 35 0 0.00 23 13 36.11 ATP5SL 0 genome.wustl.edu 37 19 41939249 41939249 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 41939249 41939249 G A SNP ATP5SL ENST00000417807 human ensembl 74_37 -1 known missense c.542 p.S181L 0.012 NULL NULL - no_errors ATP5SL HGNC ENSG00000105341 tier1 rs200495447 - 77 0 0.00 86 6 6.52 ATP7B 0 genome.wustl.edu 37 13 52534322 52534322 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 52534322 52534322 G T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.2083 p.L695I 0.994 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 48 0 0.00 18 3 14.29 ATXN7L3 0 genome.wustl.edu 37 17 42275036 42275036 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 42275036 42275036 C A SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known missense c.114 p.E38D 1.000 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 tier1 - - 43 0 0.00 34 4 10.53 BAGE2 0 genome.wustl.edu 37 21 11097578 11097578 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 11097578 11097578 G T SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.133 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 - - 151 0 0.00 57 14 19.72 BARHL2 0 genome.wustl.edu 37 1 91180292 91180292 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 91180292 91180292 C A SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known missense c.647 p.R216L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 65 0 0.00 46 3 6.12 BCLAF1 0 genome.wustl.edu 37 6 136594287 136594287 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 136594287 136594287 G A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1891 p.R631W 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 52 0 0.00 53 6 10.17 BHMT2 0 genome.wustl.edu 37 5 78378654 78378654 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 78378654 78378654 C A SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.473 p.A158D 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 tier1 - - 63 0 0.00 37 12 24.49 BMP1 0 genome.wustl.edu 37 8 22037293 22037293 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 22037293 22037293 G T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.912 p.R304 0.992 pirsf_BMP_1/tolloid-like,pfam_Peptidase_M12A pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 46 0 0.00 35 2 5.41 C10orf112 0 genome.wustl.edu 37 10 19616536 19616536 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 19616536 19616536 A C SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.1509 p.Q503H 0.982 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 67 0 0.00 31 33 51.56 C11orf49 0 genome.wustl.edu 37 11 47074049 47074049 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 47074049 47074049 G T SNP C11orf49 ENST00000525895 human ensembl 74_37 +1 known nonsense c.157 p.E53* 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 tier1 - - 74 0 0.00 59 4 6.35 C11orf63 0 genome.wustl.edu 37 11 122817347 122817347 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 122817347 122817347 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.1776 p.T592 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 64 0 0.00 33 36 52.17 C12orf40 0 genome.wustl.edu 37 12 40040183 40040183 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 40040183 40040183 C A SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known silent c.255 p.P85 0.654 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 64 0 0.00 73 4 5.19 C12orf50 0 genome.wustl.edu 37 12 88380088 88380088 + Splice_Site SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 88380088 88380088 C A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known splice_site c.922+1 e9+1 1.000 - - - no_errors C12orf50 HGNC ENSG00000165805 45 0 0.00 34 2 5.56 C12orf68 0 genome.wustl.edu 37 12 48578224 48578224 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 48578224 48578224 G T SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known missense c.319 p.G107C 0.977 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 43 0 0.00 45 3 6.12 C14orf28 0 genome.wustl.edu 37 14 45369775 45369775 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 45369775 45369775 C A SNP C14orf28 ENST00000325192 human ensembl 74_37 +1 known missense c.137 p.P46Q 1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 tier1 - - 72 0 0.00 55 4 6.78 C17orf53 0 genome.wustl.edu 37 17 42225282 42225282 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 42225282 42225282 G T SNP C17orf53 ENST00000319977 human ensembl 74_37 +1 known silent c.111 p.V37 0.002 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 tier1 - - 26 0 0.00 16 3 15.79 C19orf80 0 genome.wustl.edu 37 19 11352209 11352209 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 11352209 11352209 G A SNP C19orf80 ENST00000252453 human ensembl 74_37 +1 known missense c.548 p.R183Q 0.161 NULL NULL - no_errors C19orf80 HGNC ENSG00000130173 tier1 - - 47 0 0.00 27 7 20.59 C1QTNF1 0 genome.wustl.edu 37 17 77043850 77043850 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 77043850 77043850 G T SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.556 p.D186Y 0.364 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 36 0 0.00 31 2 6.06 C21orf91 0 genome.wustl.edu 37 21 19190565 19190565 + Missense_Mutation SNP C C G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 19190565 19190565 C G SNP C21orf91 ENST00000284881 human ensembl 74_37 -1 known missense c.71 p.G24A 1.000 pfam_EURL_prot pfam_EURL_prot - no_errors C21orf91 HGNC ENSG00000154642 tier1 - - 48 0 0.00 22 28 56.00 C4orf21 0 genome.wustl.edu 37 4 113505224 113505224 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 113505224 113505224 G T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.4208 p.P1403H 0.068 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 42 0 0.00 20 3 13.04 C5orf34 0 genome.wustl.edu 37 5 43492873 43492873 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 43492873 43492873 G T SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known silent c.1434 p.G478 0.476 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 tier1 - - 72 0 0.00 76 4 5.00 C5orf64 0 genome.wustl.edu 37 5 60999816 60999816 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 60999816 60999816 G T SNP C5orf64 ENST00000313303 human ensembl 74_37 +1 known missense c.349 p.V117F 0.016 NULL NULL - no_errors C5orf64 HGNC ENSG00000178722 tier1 - - 72 0 0.00 57 4 6.56 CA10 0 genome.wustl.edu 37 17 50235181 50235181 + RNA SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 50235181 50235181 G A SNP CA10 ENST00000573294 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CA10 HGNC ENSG00000154975 tier1 - - 27 0 0.00 22 4 15.38 CABP5 0 genome.wustl.edu 37 19 48547157 48547157 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 48547157 48547157 G T SNP CABP5 ENST00000293255 human ensembl 74_37 -1 known missense c.23 p.A8D 0.999 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP5 HGNC ENSG00000105507 tier1 - - 56 0 0.00 41 4 8.89 CACNA1E 0 genome.wustl.edu 37 1 181689919 181689919 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 181689919 181689919 G T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.1884 p.R628S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 53 0 0.00 67 4 5.63 CACTIN 0 genome.wustl.edu 37 19 3611288 3611288 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 3611288 3611288 G T SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known silent c.2133 p.L711 0.001 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 tier1 - - 39 0 0.00 34 4 10.53 CAD 0 genome.wustl.edu 37 2 27465264 27465264 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 27465264 27465264 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.6191 p.R2064H 1.000 pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Asp_carbamoyltransf 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 43 0 0.00 33 2 5.71 CAPN3 0 genome.wustl.edu 37 15 42679958 42679958 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 42679958 42679958 G T SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.506 p.R169L 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 tier1 - - 50 0 0.00 48 4 7.69 CASC5 0 genome.wustl.edu 37 15 40917434 40917434 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 40917434 40917434 C T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.5050 p.P1684S 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 60 0 0.00 71 4 5.33 CCBE1 0 genome.wustl.edu 37 18 57106801 57106802 + Frame_Shift_Ins INS - - A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 18 57106801 57106802 - A INS CCBE1 ENST00000439986 human ensembl 74_37 -1 known frame_shift_ins c.925_924 p.G308fs 1.000:0.997 pfam_Collagen pfam_Collagen,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors CCBE1 HGNC ENSG00000183287 tier1 56 0 0.00 35 2 5.41 CCDC112 0 genome.wustl.edu 37 5 114604588 114604589 + Frame_Shift_Ins INS - - T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 114604588 114604589 - T INS CCDC112 ENST00000379611 human ensembl 74_37 -1 known frame_shift_ins c.1538_1537 p.I513fs 0.998:0.996 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 tier1 43 0 0.00 32 7 17.95 CCDC14 0 genome.wustl.edu 37 3 123667900 123667900 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 123667900 123667900 G T SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.576 p.N192K 0.008 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 tier1 - - 45 0 0.00 28 3 9.68 CCDC22 0 genome.wustl.edu 37 X 49105333 49105333 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 49105333 49105333 G T SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known missense c.1487 p.R496L 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 21 0 0.00 20 4 16.67 CCDC88A 0 genome.wustl.edu 37 2 55591107 55591107 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 55591107 55591107 C T SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known silent c.465 p.A155 0.998 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 tier1 - - 61 0 0.00 54 18 25.00 CDC42BPA 0 genome.wustl.edu 37 1 227504836 227504836 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 227504836 227504836 G T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.48 p.D16E 0.964 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 53 0 0.00 26 32 55.17 CDK5RAP3 0 genome.wustl.edu 37 17 46053334 46053334 + Silent SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 46053334 46053334 A G SNP CDK5RAP3 ENST00000338399 human ensembl 74_37 +1 known silent c.753 p.E251 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 rs202125432 - 40 0 0.00 39 14 26.42 CDKN2A 0 genome.wustl.edu 37 9 21974676 21974676 + Splice_Site SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 21974676 21974676 C A SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known splice_site c.150+1 e1+1 1.000 - - - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 52 0 0.00 5 14 73.68 CFH 0 genome.wustl.edu 37 1 196642152 196642152 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 196642152 196642152 G T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.103 p.G35C 0.490 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 50 0 0.00 38 4 9.52 CHD2 0 genome.wustl.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 93540315 93540316 - A INS CHD2 ENST00000557381 human ensembl 74_37 +1 putative frame_shift_ins c.3724_3725 p.Y1246fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 61 0 0.00 56 6 9.68 CHRM3 0 genome.wustl.edu 37 1 240071724 240071724 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 240071724 240071724 G T SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known nonsense c.973 p.E325* 0.886 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 39 0 0.00 30 2 6.25 CHRNA7 0 genome.wustl.edu 37 15 32460285 32460285 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 32460285 32460285 G A SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known missense c.1222 p.A408T 0.028 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 CHRNA7 HGNC ENSG00000175344 tier1 - - 113 0 0.00 66 18 21.43 CHRNB1 0 genome.wustl.edu 37 17 7350939 7350939 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 7350939 7350939 G T SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known nonsense c.580 p.E194* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 28 0 0.00 37 2 5.13 CHRNB2 0 genome.wustl.edu 37 1 154542805 154542805 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 154542805 154542805 C A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.327 p.S109 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 tier1 - - 37 0 0.00 35 4 10.26 CLRN1-AS1 0 genome.wustl.edu 37 3 150784178 150784178 + RNA SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 150784178 150784178 G A SNP CLRN1-AS1 ENST00000465576 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors CLRN1-AS1 HGNC ENSG00000239265 tier1 - - 62 0 0.00 42 29 40.85 CNGA1 0 genome.wustl.edu 37 4 47954661 47954661 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 47954661 47954661 G A SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.265 p.P89S 0.957 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 tier1 - - 59 0 0.00 47 4 7.84 CNPY2 0 genome.wustl.edu 37 12 56705097 56705097 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 56705097 56705097 G T SNP CNPY2 ENST00000273308 human ensembl 74_37 -1 known silent c.306 p.R102 0.994 pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB - no_errors CNPY2 HGNC ENSG00000257727 tier1 - - 49 0 0.00 55 4 6.78 CNTN3 0 genome.wustl.edu 37 3 74419075 74419075 + Silent SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 74419075 74419075 A C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.726 p.G242 0.955 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 92 0 0.00 51 34 39.53 COL19A1 0 genome.wustl.edu 37 6 70589540 70589540 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 70589540 70589540 G T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.81 p.R27S 0.969 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 79 0 0.00 76 4 5.00 COL3A1 0 genome.wustl.edu 37 2 189873924 189873924 + Missense_Mutation SNP T T A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 189873924 189873924 T A SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.3800 p.F1267Y 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 50 0 0.00 20 25 55.56 COL4A2 0 genome.wustl.edu 37 13 111130299 111130299 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 111130299 111130299 G T SNP COL4A2 ENST00000483683 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 57 0 0.00 45 5 10.00 COL5A1 0 genome.wustl.edu 37 9 137620555 137620555 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 137620555 137620555 G T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known nonsense c.826 p.E276* 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 115 0 0.00 89 5 5.32 COL6A5 0 genome.wustl.edu 37 3 130129368 130129368 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 130129368 130129368 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.4662 p.R1554S 0.556 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 56 0 0.00 73 4 5.19 COQ5 0 genome.wustl.edu 37 12 120960119 120960119 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 120960119 120960119 C A SNP COQ5 ENST00000288532 human ensembl 74_37 -1 known missense c.250 p.D84Y 1.000 pfam_UbiE/COQ5_MeTrFase pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 tier1 - - 41 0 0.00 58 5 7.94 CPNE8 0 genome.wustl.edu 37 12 39223209 39223209 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 39223209 39223209 G T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.379 p.Q127K 1.000 superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 51 0 0.00 36 2 5.26 CPSF6 0 genome.wustl.edu 37 12 69652850 69652850 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 69652850 69652850 G T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known missense c.1286 p.R429M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 27 0 0.00 38 3 7.32 CRHBP 0 genome.wustl.edu 37 5 76264603 76264603 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 76264603 76264603 G T SNP CRHBP ENST00000274368 human ensembl 74_37 +1 known nonsense c.862 p.G288* 1.000 pfam_CRF-bd,pirsf_CRF-bd pfam_CRF-bd,superfamily_CUB_dom,pirsf_CRF-bd - no_errors CRHBP HGNC ENSG00000145708 tier1 - - 67 0 0.00 45 4 8.16 CSF1R 0 genome.wustl.edu 37 5 149447857 149447857 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 149447857 149447857 G T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1547 p.T516K 0.857 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 38 0 0.00 28 4 12.50 CSF1R 0 genome.wustl.edu 37 5 149453043 149453043 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 149453043 149453043 C A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.903 p.L301F 0.998 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 41 0 0.00 27 2 6.90 CSGALNACT2 0 genome.wustl.edu 37 10 43651097 43651097 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 43651097 43651097 C T SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known missense c.500 p.P167L 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 tier1 - - 70 0 0.00 71 4 5.33 CSMD1 0 genome.wustl.edu 37 8 2857615 2857615 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 2857615 2857615 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8071 p.H2691Y 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 47 0 0.00 33 4 10.81 CSMD1 0 genome.wustl.edu 37 8 2976017 2976017 + Nonsense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 2976017 2976017 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.6337 p.E2113* 0.973 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 81 0 0.00 62 4 6.06 CTNNA2 0 genome.wustl.edu 37 2 80085246 80085246 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 80085246 80085246 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.508 p.R170C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 37 0 0.00 19 7 26.92 CTU2 0 genome.wustl.edu 37 16 88778735 88778735 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 88778735 88778735 G T SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known missense c.610 p.V204L 0.378 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 tier1 - - 72 0 0.00 50 4 7.41 CYB5RL 0 genome.wustl.edu 37 1 54644957 54644957 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 54644957 54644957 G T SNP CYB5RL ENST00000419823 human ensembl 74_37 -1 known silent c.609 p.I203 1.000 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 tier1 - - 49 0 0.00 43 4 8.51 CYMP 0 genome.wustl.edu 37 1 111031223 111031223 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 111031223 111031223 G T SNP CYMP ENST00000420853 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CYMP HGNC ENSG00000240194 tier1 - - 43 0 0.00 30 4 11.76 CYP4F2 0 genome.wustl.edu 37 19 15990453 15990453 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 15990453 15990453 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.1275 p.F425 0.915 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 69 0 0.00 26 21 44.68 CYP4F2 0 genome.wustl.edu 37 19 16001157 16001157 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 16001157 16001157 C A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.612 p.Q204H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 70 0 0.00 55 4 6.78 DAAM2 0 genome.wustl.edu 37 6 39864622 39864622 + Missense_Mutation SNP C C G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 39864622 39864622 C G SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.2376 p.S792R 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 tier1 - - 31 0 0.00 32 7 17.95 DCLRE1A 0 genome.wustl.edu 37 10 115596896 115596896 + Nonsense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 115596896 115596896 C A SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known nonsense c.2887 p.G963* 1.000 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 48 0 0.00 74 4 5.13 DCN 0 genome.wustl.edu 37 12 91558458 91558458 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 91558458 91558458 G T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.248 p.T83K 1.000 smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 tier1 - - 73 0 0.00 75 5 6.25 DDO 0 genome.wustl.edu 37 6 110729555 110729555 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 110729555 110729555 C T SNP DDO ENST00000368924 human ensembl 74_37 -1 known missense c.347 p.G116D 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 tier1 - - 47 0 0.00 50 35 41.18 DICER1 0 genome.wustl.edu 37 14 95590807 95590807 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 95590807 95590807 G T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.1102 p.L368I 1.000 superfamily_P-loop_NTPase pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 23 0 0.00 15 2 11.76 DLGAP5 0 genome.wustl.edu 37 14 55649122 55649122 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 55649122 55649122 C A SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known missense c.461 p.R154M 1.000 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 tier1 - - 85 0 0.00 56 4 6.67 DMTN 0 genome.wustl.edu 37 8 21929884 21929886 + In_Frame_Del DEL GAG GAG - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 21929884 21929886 GAG - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known in_frame_del c.652_654 p.E221in_frame_del 0.977:0.984:0.990 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 tier1 29 0 0.00 22 3 12.00 DNAAF3 0 genome.wustl.edu 37 19 55673609 55673609 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 55673609 55673609 C T SNP DNAAF3 ENST00000527223 human ensembl 74_37 -1 known silent c.576 p.P192 0.046 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 tier1 - - 23 0 0.00 14 8 36.36 DNAH11 0 genome.wustl.edu 37 7 21938963 21938963 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 21938963 21938963 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.13080 p.D4360 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 50 0 0.00 38 5 11.63 DNAH17 0 genome.wustl.edu 37 17 76570976 76570976 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 76570976 76570976 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.164 p.T55M 0.918 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 62 0 0.00 45 13 22.41 DNAH2 0 genome.wustl.edu 37 17 7643738 7643738 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 7643738 7643738 G T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1377 p.K459N 0.949 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 28 0 0.00 19 2 9.52 DNAH5 0 genome.wustl.edu 37 5 13810212 13810212 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 13810212 13810212 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7565 p.A2522V 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 49 0 0.00 41 4 8.89 DNAH7 0 genome.wustl.edu 37 2 196788373 196788374 + Frame_Shift_Ins INS - - T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 196788373 196788374 - T INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.3771_3770 p.N1257fs 0.000:0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 28 0 0.00 16 2 11.11 DNHD1 0 genome.wustl.edu 37 11 6565416 6565416 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 6565416 6565416 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known nonsense c.3694 p.E1232* 0.997 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 34 0 0.00 32 2 5.88 DNPEP 0 genome.wustl.edu 37 2 220246836 220246836 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 220246836 220246836 G T SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known missense c.962 p.A321E 1.000 pfam_Peptidase_M18,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 23 0 0.00 32 4 11.11 DOCK2 0 genome.wustl.edu 37 5 169186770 169186770 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 169186770 169186770 A C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2438 p.K813T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 53 0 0.00 25 33 56.90 DTNB 0 genome.wustl.edu 37 2 25799868 25799868 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 25799868 25799868 G T SNP DTNB ENST00000406818 human ensembl 74_37 -1 known missense c.715 p.H239N 1.000 smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 tier1 - - 51 0 0.00 58 5 7.94 DUOX1 0 genome.wustl.edu 37 15 45444628 45444628 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 45444628 45444628 G T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.3338 p.R1113L 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 60 0 0.00 43 4 8.51 DUSP27 0 genome.wustl.edu 37 1 167095398 167095400 + In_Frame_Del DEL GAG GAG - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 167095398 167095400 GAG - DEL DUSP27 ENST00000271385 human ensembl 74_37 +1 known in_frame_del c.1030_1032 p.E347in_frame_del 0.043:0.053:0.008 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 39 0 0.00 17 3 15.00 DUSP27 0 genome.wustl.edu 37 1 167095830 167095830 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 167095830 167095830 G T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known nonsense c.1462 p.E488* 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 37 0 0.00 44 4 8.33 DYNC1H1 0 genome.wustl.edu 37 14 102505786 102505786 + Missense_Mutation SNP T T A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 102505786 102505786 T A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.11498 p.L3833Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 44 0 0.00 14 4 22.22 EAF2 0 genome.wustl.edu 37 3 121591470 121591470 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 121591470 121591470 G A SNP EAF2 ENST00000273668 human ensembl 74_37 +1 known missense c.571 p.E191K 1.000 NULL pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 tier1 - - 53 0 0.00 35 29 45.31 EDNRB 0 genome.wustl.edu 37 13 78474768 78474768 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 78474768 78474768 C T SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.973 p.V325I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 57 0 0.00 37 3 7.50 EHMT1 0 genome.wustl.edu 37 9 140611554 140611554 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 140611554 140611554 G T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.562 p.D188Y 0.017 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 63 0 0.00 76 4 5.00 EIF2A 0 genome.wustl.edu 37 3 150301678 150301678 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 150301678 150301678 G T SNP EIF2A ENST00000460851 human ensembl 74_37 +1 known missense c.1738 p.D580Y 1.000 pirsf_TIF2A pfam_TIF_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 tier1 - - 56 0 0.00 68 4 5.56 ELN 0 genome.wustl.edu 37 7 73477992 73477992 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 73477992 73477992 G T SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.2164 p.G722W 0.051 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 72 0 0.00 56 4 6.67 EMC10 0 genome.wustl.edu 37 19 50985172 50985172 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 50985172 50985172 C T SNP EMC10 ENST00000376918 human ensembl 74_37 +1 known missense c.733 p.P245S 0.985 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 tier1 - - 24 0 0.00 31 7 18.42 EMX2 0 genome.wustl.edu 37 10 119305283 119305283 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 119305283 119305283 G T SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known nonsense c.547 p.E183* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 44 0 0.00 50 3 5.66 ENSG00000207252 0 genome.wustl.edu 37 11 24477537 24477537 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 24477537 24477537 C A SNP ENSG00000207252 ENST00000384522 human ensembl 74_37 +1 novel rna NULL NULL 0.051 - - - no_errors Y_RNA RFAM ENSG00000207252 tier1 - - 21 0 0.00 12 4 25.00 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 29 0 0.00 19 3 13.64 ENSG00000229881 0 genome.wustl.edu 37 7 63602112 63602112 + RNA SNP T T A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 63602112 63602112 T A SNP ENSG00000229881 ENST00000442436 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-321E8.4 Clone_based_vega_gene ENSG00000229881 tier1 - - 26 0 0.00 14 3 17.65 ENSG00000234978 0 genome.wustl.edu 37 1 142803240 142803240 + RNA SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 142803240 142803240 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 rs76010818 - 78 0 0.00 40 6 13.04 ENSG00000259357 0 genome.wustl.edu 37 1 150938220 150938220 + Splice_Site SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 150938220 150938220 G T SNP ENSG00000259357 ENST00000560481 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-316M1.12 Clone_based_vega_gene ENSG00000259357 tier1 - - 62 0 0.00 65 4 5.80 ENSG00000268845 0 genome.wustl.edu 37 19 6954591 6954591 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 6954591 6954591 G T SNP ENSG00000268845 ENST00000593558 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1137G4.3 Clone_based_vega_gene ENSG00000268845 tier1 - - 68 0 0.00 64 4 5.88 ENSG00000272268 0 genome.wustl.edu 37 2 6112394 6112394 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 6112394 6112394 A G SNP ENSG00000272268 ENST00000391666 human ensembl 74_37 +1 known missense c.338 p.Q113R 0.000 NULL NULL - no_errors FLJ30594 Uniprot_gn ENSG00000272268 tier1 - - 31 0 0.00 27 9 25.00 ENSG00000272694 0 genome.wustl.edu 37 22 37768294 37768294 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 37768294 37768294 C A SNP ENSG00000272694 ENST00000609322 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors RP1-63G5.8 Clone_based_vega_gene ENSG00000272694 tier1 - - 83 0 0.00 27 8 22.86 EP400 0 genome.wustl.edu 37 12 132512792 132512792 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 132512792 132512792 G T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.5448 p.T1816 0.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 39 0 0.00 53 4 7.02 EP400 0 genome.wustl.edu 37 12 132514632 132514632 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 132514632 132514632 G T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known nonsense c.5791 p.E1931* 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 25 0 0.00 41 4 8.89 EPAS1 0 genome.wustl.edu 37 2 46574120 46574120 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 46574120 46574120 C A SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.135 p.H45Q 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 - - 51 0 0.00 39 12 23.53 EPB41L4B 0 genome.wustl.edu 37 9 111962585 111962585 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 111962585 111962585 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.1976 p.A659V 0.742 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 66 0 0.00 64 4 5.88 EPC1 0 genome.wustl.edu 37 10 32573915 32573915 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 32573915 32573915 C A SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known missense c.1455 p.M485I 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 tier1 - - 44 0 0.00 56 4 6.67 EPHA5 0 genome.wustl.edu 37 4 66467471 66467471 + Silent SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 66467471 66467471 A G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.798 p.S266 0.035 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 30 0 0.00 13 20 60.61 ERBB2IP 0 genome.wustl.edu 37 5 65349238 65349238 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 65349238 65349238 G T SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known nonsense c.2092 p.E698* 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 79 0 0.00 57 4 6.56 ERBB4 0 genome.wustl.edu 37 2 212293154 212293154 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 212293154 212293154 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2698 p.Q900K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 61 0 0.00 60 4 6.25 EXD3 0 genome.wustl.edu 37 9 140245931 140245931 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 140245931 140245931 G A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.1223 p.A408V 0.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 62 0 0.00 54 13 19.40 EXOSC2 0 genome.wustl.edu 37 9 133579120 133579120 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 133579120 133579120 G T SNP EXOSC2 ENST00000372358 human ensembl 74_37 +1 known missense c.841 p.V281L 1.000 NULL superfamily_NA-bd_OB-fold - no_errors EXOSC2 HGNC ENSG00000130713 48 0 0.00 75 4 5.06 EYA3 0 genome.wustl.edu 37 1 28300999 28300999 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 28300999 28300999 G T SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.1700 p.A567D 1.000 tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 tier1 - - 60 0 0.00 71 5 6.58 EYS 0 genome.wustl.edu 37 6 65767617 65767617 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 65767617 65767617 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.2027 p.T676M 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 rs199944222 - 80 0 0.00 69 35 33.65 EZH1 0 genome.wustl.edu 37 17 40858038 40858038 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 40858038 40858038 C T SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.1826 p.R609H 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 tier1 - - 88 0 0.00 72 4 5.19 FAM129A 0 genome.wustl.edu 37 1 184853896 184853896 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 184853896 184853896 G T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.472 p.L158M 0.344 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 - - 55 0 0.00 51 4 7.27 FAM138D 0 genome.wustl.edu 37 12 148811 148811 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 148811 148811 G T SNP FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.177 - - - no_errors FAM138D HGNC ENSG00000206114 59 0 0.00 75 5 6.25 FAM160B1 0 genome.wustl.edu 37 10 116615069 116615069 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 116615069 116615069 G T SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known silent c.1917 p.L639 0.072 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 tier1 - - 45 0 0.00 40 4 9.09 FAM170B 0 genome.wustl.edu 37 10 50340060 50340060 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 50340060 50340060 G A SNP FAM170B ENST00000311787 human ensembl 74_37 -1 known silent c.450 p.N150 0.465 NULL NULL - no_errors FAM170B HGNC ENSG00000172538 tier1 - - 46 0 0.00 36 18 33.33 FAM193B 0 genome.wustl.edu 37 5 176950989 176950989 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 176950989 176950989 C T SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known missense c.2242 p.E748K 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 tier1 - - 47 0 0.00 17 27 61.36 FARP1 0 genome.wustl.edu 37 13 99092216 99092216 + Missense_Mutation SNP T T C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 99092216 99092216 T C SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2528 p.I843T 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 27 0 0.00 4 15 78.95 FBL 0 genome.wustl.edu 37 19 40329803 40329803 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 40329803 40329803 G T SNP FBL ENST00000221801 human ensembl 74_37 -1 known missense c.421 p.R141S 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 69 0 0.00 70 4 5.41 FERD3L 0 genome.wustl.edu 37 7 19184740 19184740 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 19184740 19184740 G A SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known silent c.246 p.R82 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 tier1 - - 25 0 0.00 17 5 22.73 FLJ45256 0 genome.wustl.edu 37 16 24675261 24675261 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 24675261 24675261 G T SNP FLJ45256 ENST00000414816 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC012317.1 Clone_based_vega_gene ENSG00000224310 tier1 - - 45 0 0.00 120 16 11.76 FLNC 0 genome.wustl.edu 37 7 128494232 128494232 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 128494232 128494232 G T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6689 p.R2230L 0.996 smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 17 0 0.00 14 2 12.50 FLRT2 0 genome.wustl.edu 37 14 86088429 86088429 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 86088429 86088429 C A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.571 p.R191 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 36 0 0.00 28 2 6.67 FN1 0 genome.wustl.edu 37 2 216248103 216248103 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 216248103 216248103 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.4998 p.T1666 0.023 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 60 0 0.00 47 4 7.84 FREM1 0 genome.wustl.edu 37 9 14857655 14857655 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 14857655 14857655 G T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.724 p.L242M 0.923 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 49 0 0.00 69 4 5.48 FREM3 0 genome.wustl.edu 37 4 144617459 144617459 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 144617459 144617459 G T SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.4370 p.S1457Y 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 91 0 0.00 49 4 7.55 FTO 0 genome.wustl.edu 37 16 53860211 53860211 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 53860211 53860211 G T SNP FTO ENST00000471389 human ensembl 74_37 +1 known nonsense c.559 p.G187* 0.000 NULL NULL - no_errors FTO HGNC ENSG00000140718 50 0 0.00 25 2 7.41 GABRA6 0 genome.wustl.edu 37 5 161113276 161113276 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 161113276 161113276 T G SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.79 p.F27V 0.990 prints_GABBAa6_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 36 0 0.00 21 17 44.74 GABRA6 0 genome.wustl.edu 37 5 161116331 161116331 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 161116331 161116331 A C SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.518 p.K173T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 77 0 0.00 53 15 22.06 GCGR 0 genome.wustl.edu 37 17 79769647 79769647 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 79769647 79769647 G A SNP GCGR ENST00000400723 human ensembl 74_37 +1 known missense c.778 p.E260K 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_GIP_rcpt 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_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GCGR HGNC ENSG00000215644 tier1 - - 71 0 0.00 37 14 27.45 GFPT2 0 genome.wustl.edu 37 5 179751188 179751188 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 179751188 179751188 C A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known missense c.794 p.S265I 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 tier1 - - 41 0 0.00 40 4 9.09 GFRA1 0 genome.wustl.edu 37 10 118031698 118031698 + RNA SNP C C G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 118031698 118031698 C G SNP GFRA1 ENST00000490345 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors GFRA1 HGNC ENSG00000151892 tier1 - - 14 0 0.00 7 4 36.36 GGTA1P 0 genome.wustl.edu 37 9 124223557 124223557 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 124223557 124223557 C A SNP GGTA1P ENST00000373793 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GGTA1P HGNC ENSG00000204136 47 0 0.00 68 4 5.56 GJA8 0 genome.wustl.edu 37 1 147381036 147381036 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 147381036 147381036 G T SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.954 p.E318D 1.000 pfam_Connexin50,prints_Connexin50 pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 38 0 0.00 69 4 5.48 GLDC 0 genome.wustl.edu 37 9 6554686 6554686 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 6554686 6554686 G A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known silent c.2298 p.G766 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 70 0 0.00 76 4 5.00 GNA13 0 genome.wustl.edu 37 17 63052436 63052436 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 63052436 63052436 C T SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known silent c.276 p.V92 0.994 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_12 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 tier1 - - 55 0 0.00 68 10 12.82 GNAS 0 genome.wustl.edu 37 20 57466893 57466893 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 57466893 57466893 C A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known silent c.112 p.R38 0.934 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 42 0 0.00 63 4 5.97 GOLGA4 0 genome.wustl.edu 37 3 37381677 37381677 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 37381677 37381677 G A SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known silent c.6459 p.G2153 0.921 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 40 0 0.00 21 17 44.74 GPR126 0 genome.wustl.edu 37 6 142715088 142715088 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 142715088 142715088 G T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known nonsense c.1417 p.E473* 0.655 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 68 0 0.00 59 4 6.35 GRIA1 0 genome.wustl.edu 37 5 153026596 153026596 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 153026596 153026596 C T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.359 p.T120M 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 66 0 0.00 20 28 58.33 GRIN3A 0 genome.wustl.edu 37 9 104385674 104385674 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 104385674 104385674 G A SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2540 p.A847V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 42 0 0.00 74 4 5.13 GRM4 0 genome.wustl.edu 37 6 34029734 34029734 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 34029734 34029734 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.808 p.R270C 0.970 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 45 0 0.00 7 55 88.71 GRTP1 0 genome.wustl.edu 37 13 113980051 113980051 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 113980051 113980051 G T SNP GRTP1 ENST00000375430 human ensembl 74_37 -1 known missense c.846 p.S282R 0.097 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 tier1 - - 45 0 0.00 14 4 22.22 GSAP 0 genome.wustl.edu 37 7 76984923 76984923 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 76984923 76984923 G T SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.1069 p.L357I 0.996 NULL NULL - no_errors GSAP HGNC ENSG00000186088 tier1 - - 65 0 0.00 84 5 5.62 H3F3B 0 genome.wustl.edu 37 17 73774414 73774415 + RNA INS - - A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 73774414 73774415 - A INS H3F3B ENST00000593254 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors H3F3B HGNC ENSG00000132475 tier1 42 0 0.00 22 14 38.89 HAS3 0 genome.wustl.edu 37 16 69143446 69143446 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 69143446 69143446 G T SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.148 p.A50S 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 19 0 0.00 17 2 10.53 HDLBP 0 genome.wustl.edu 37 2 242170310 242170310 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 242170310 242170310 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3338 p.A1113V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 66 0 0.00 35 25 40.98 HEATR5B 0 genome.wustl.edu 37 2 37230810 37230810 + Missense_Mutation SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 37230810 37230810 A T SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.4925 p.L1642Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 56 0 0.00 39 8 17.02 HEPH 0 genome.wustl.edu 37 X 65428033 65428033 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 65428033 65428033 G A SNP HEPH ENST00000519389 human ensembl 74_37 +1 known silent c.2670 p.V890 0.046 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 61 0 0.00 52 4 7.14 HERC3 0 genome.wustl.edu 37 4 89576391 89576391 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 89576391 89576391 G T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known nonsense c.844 p.E282* 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 112 0 0.00 74 4 5.13 HM13 0 genome.wustl.edu 37 20 30137095 30137095 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 30137095 30137095 G T SNP HM13 ENST00000398174 human ensembl 74_37 +1 known missense c.626 p.C209F 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 tier1 - - 32 0 0.00 55 4 6.78 HMCN1 0 genome.wustl.edu 37 1 186030997 186030997 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 186030997 186030997 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.7327 p.R2443W 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 - - 55 0 0.00 32 39 54.93 HOOK3 0 genome.wustl.edu 37 8 42823327 42823327 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 42823327 42823327 G A SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.1092 p.A364 0.049 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 41 0 0.00 72 4 5.26 HRC 0 genome.wustl.edu 37 19 49658061 49658061 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 49658061 49658061 G T SNP HRC ENST00000252825 human ensembl 74_37 -1 known nonsense c.434 p.S145* 0.002 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 19 0 0.00 26 4 13.33 HS3ST4 0 genome.wustl.edu 37 16 25703882 25703882 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 25703882 25703882 G A SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known silent c.144 p.L48 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 tier1 - - 20 0 0.00 67 16 19.28 HSPA12A 0 genome.wustl.edu 37 10 118439187 118439187 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 118439187 118439187 G T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1113 p.F371L 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 86 0 0.00 54 3 5.26 IL1R2 0 genome.wustl.edu 37 2 102626039 102626039 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 102626039 102626039 G T SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.83 p.C28F 0.956 pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 37 0 0.00 26 2 7.14 IL22RA2 0 genome.wustl.edu 37 6 137468892 137468892 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 137468892 137468892 G T SNP IL22RA2 ENST00000296980 human ensembl 74_37 -1 known nonsense c.609 p.Y203* 0.991 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 tier1 - - 30 0 0.00 45 4 8.16 IQCH 0 genome.wustl.edu 37 15 67571788 67571788 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 67571788 67571788 G T SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.325 p.G109C 0.368 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 tier1 - - 94 0 0.00 113 6 5.04 IRF4 0 genome.wustl.edu 37 6 394896 394896 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 394896 394896 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.292 p.R98W 0.988 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 - - 71 0 0.00 22 11 33.33 JDP2 0 genome.wustl.edu 37 14 75899033 75899033 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 75899033 75899033 G T SNP JDP2 ENST00000267569 human ensembl 74_37 +1 known missense c.4 p.V2L 0.001 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 tier1 - - 68 0 0.00 54 4 6.90 KCNJ2 0 genome.wustl.edu 37 17 68171512 68171512 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 68171512 68171512 G T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.332 p.G111V 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 tier1 - - 65 0 0.00 51 4 7.27 KCNN3 0 genome.wustl.edu 37 1 154842333 154842333 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 154842333 154842333 C T SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel silent c.108 p.Q36 0.823 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 59 0 0.00 65 5 7.14 KCNQ5 0 genome.wustl.edu 37 6 73900333 73900333 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 73900333 73900333 G T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known nonsense c.1645 p.E549* 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 74 0 0.00 89 5 5.32 KCTD9 0 genome.wustl.edu 37 8 25297192 25297192 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 25297192 25297192 G T SNP KCTD9 ENST00000518067 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KCTD9 HGNC ENSG00000104756 tier1 - - 86 0 0.00 55 4 6.56 KDM3A 0 genome.wustl.edu 37 2 86712884 86712884 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 86712884 86712884 C A SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.3215 p.P1072H 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 37 0 0.00 32 3 8.57 KDM4B 0 genome.wustl.edu 37 19 5144037 5144037 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 5144037 5144037 C A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.2610 p.S870 0.974 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 41 0 0.00 45 4 8.16 KIF12 0 genome.wustl.edu 37 9 116857592 116857592 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 116857592 116857592 G A SNP KIF12 ENST00000374118 human ensembl 74_37 -1 known silent c.502 p.L168 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 18 0 0.00 8 2 20.00 KNDC1 0 genome.wustl.edu 37 10 135027545 135027545 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 135027545 135027545 G T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.4602 p.K1534N 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 74 0 0.00 62 4 6.06 KRT6C 0 genome.wustl.edu 37 12 52862909 52862909 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 52862909 52862909 G A SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known silent c.1632 p.G544 0.997 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 tier1 - - 64 0 0.00 48 38 44.19 KRTAP19-4 0 genome.wustl.edu 37 21 31869393 31869393 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 31869393 31869393 G T SNP KRTAP19-4 ENST00000334058 human ensembl 74_37 -1 known silent c.36 p.G12 0.855 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-4 HGNC ENSG00000186967 tier1 - - 80 0 0.00 14 36 72.00 KRTAP19-8 0 genome.wustl.edu 37 21 32410730 32410730 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 32410730 32410730 C A SNP KRTAP19-8 ENST00000382822 human ensembl 74_37 -1 known silent c.33 p.L11 0.994 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-8 HGNC ENSG00000206102 tier1 - - 95 0 0.00 72 4 5.26 KSR2 0 genome.wustl.edu 37 12 118298113 118298113 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 118298113 118298113 G T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.304 p.R102S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 32 0 0.00 29 2 6.45 L1CAM 0 genome.wustl.edu 37 X 153134317 153134317 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 153134317 153134317 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1364 p.A455V 0.417 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 - - 36 0 0.00 2 34 94.44 LAMA1 0 genome.wustl.edu 37 18 6993683 6993683 + Silent SNP T T C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 18 6993683 6993683 T C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.4965 p.Q1655 0.000 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 14 0 0.00 5 7 58.33 LAX1 0 genome.wustl.edu 37 1 203740495 203740495 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 203740495 203740495 G T SNP LAX1 ENST00000442561 human ensembl 74_37 +1 known missense c.200 p.R67L 0.171 NULL NULL - no_errors LAX1 HGNC ENSG00000122188 86 0 0.00 65 4 5.80 LEF1 0 genome.wustl.edu 37 4 109086341 109086341 + RNA SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 109086341 109086341 C T SNP LEF1 ENST00000509428 human ensembl 74_37 -1 known rna NULL NULL 0.858 - - - no_errors LEF1 HGNC ENSG00000138795 tier1 - - 73 0 0.00 22 25 53.19 LIMCH1 0 genome.wustl.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 41648508 41648509 GA - DEL LIMCH1 ENST00000503057 human ensembl 74_37 +1 known frame_shift_del c.2418_2419 p.E810fs 0.997:1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 46 0 0.00 12 2 14.29 LNX2 0 genome.wustl.edu 37 13 28141833 28141833 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 28141833 28141833 G T SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known silent c.799 p.R267 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 tier1 - - 85 0 0.00 60 4 6.25 LOC101927345 0 genome.wustl.edu 37 1 143378350 143378350 + RNA SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 143378350 143378350 A C SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 35 0 0.00 17 10 37.04 LOC101927599 0 genome.wustl.edu 37 19 37064222 37064222 + RNA SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 37064222 37064222 A C SNP LOC101927599 ENST00000475219 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors AC092295.7 Clone_based_vega_gene ENSG00000233527 tier1 - - 95 0 0.00 55 22 28.57 LOC101927969 0 genome.wustl.edu 37 5 168135166 168135166 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 168135166 168135166 C A SNP LOC101927969 ENST00000522615 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000254042 tier1 - - 21 0 0.00 12 4 25.00 LOC101930657 0 genome.wustl.edu 37 1 721313 721313 + RNA SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 721313 721313 A T SNP LOC101930657 ENST00000591702 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 tier1 - - 49 0 0.00 15 17 53.12 LONP2 0 genome.wustl.edu 37 16 48368268 48368268 + Missense_Mutation SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 48368268 48368268 A T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.1937 p.E646V 1.000 pfam_Pept_S16_C,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 tier1 - - 30 0 0.00 7 10 58.82 LRFN5 0 genome.wustl.edu 37 14 42355887 42355887 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 42355887 42355887 G T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.59 p.C20F 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 52 0 0.00 24 22 47.83 LRP1 0 genome.wustl.edu 37 12 57571246 57571246 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 57571246 57571246 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.4233 p.P1411 0.998 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 35 0 0.00 50 4 7.41 LRP1 0 genome.wustl.edu 37 12 57573298 57573298 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 57573298 57573298 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4925 p.A1642V 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 40 0 0.00 50 4 7.41 LRP2 0 genome.wustl.edu 37 2 169985205 169985205 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 169985205 169985205 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.13936 p.A4646T 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 45 0 0.00 28 2 6.67 LRP2BP 0 genome.wustl.edu 37 4 186295346 186295346 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 186295346 186295346 C A SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known missense c.528 p.K176N 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 tier1 - - 67 0 0.00 20 31 60.78 LRP4 0 genome.wustl.edu 37 11 46898787 46898787 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 46898787 46898787 C A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.3240 p.M1080I 1.000 smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 66 0 0.00 47 4 7.84 LRPPRC 0 genome.wustl.edu 37 2 44170940 44170940 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 44170940 44170940 G A SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.2390 p.A797V 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 80 0 0.00 74 20 21.28 LRRC38 0 genome.wustl.edu 37 1 13839512 13839513 + Frame_Shift_Del DEL CA CA - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 13839512 13839513 CA - DEL LRRC38 ENST00000376085 human ensembl 74_37 -1 known frame_shift_del c.577_576 p.C192fs 0.999:0.978 smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 tier1 31 0 0.00 12 4 25.00 LRRC42 0 genome.wustl.edu 37 1 54427698 54427698 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 54427698 54427698 G T SNP LRRC42 ENST00000477905 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors LRRC42 HGNC ENSG00000116212 tier1 - - 42 0 0.00 72 4 5.26 LRRC8A 0 genome.wustl.edu 37 9 131670745 131670745 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 131670745 131670745 G T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.1302 p.M434I 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 11 0 0.00 12 4 25.00 LRRTM4 0 genome.wustl.edu 37 2 77746589 77746589 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 77746589 77746589 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.409 p.R137C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 96 0 0.00 30 39 56.52 MACF1 0 genome.wustl.edu 37 1 39893243 39893243 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 39893243 39893243 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.10247 p.G3416V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 59 0 0.00 52 3 5.36 MACROD2 0 genome.wustl.edu 37 20 15967782 15967782 + Missense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 15967782 15967782 G C SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.1132 p.E378Q 1.000 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 38 0 0.00 24 6 20.00 MAP4 0 genome.wustl.edu 37 3 47933289 47933289 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 47933289 47933289 G T SNP MAP4 ENST00000420772 human ensembl 74_37 -1 known silent c.693 p.S231 0.002 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 tier1 - - 44 0 0.00 45 6 11.76 MAPKAP1 0 genome.wustl.edu 37 9 128347888 128347888 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 128347888 128347888 A G SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.617 p.L206P 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 46 0 0.00 70 4 5.33 MARCH10 0 genome.wustl.edu 37 17 60813487 60813487 + Nonsense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 60813487 60813487 G C SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known nonsense c.1742 p.S581* 0.008 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 49 0 0.00 26 3 10.34 MARCH8 0 genome.wustl.edu 37 10 45953829 45953829 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 45953829 45953829 C T SNP MARCH8 ENST00000319836 human ensembl 74_37 -1 known missense c.734 p.S245N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH8 HGNC ENSG00000165406 tier1 - - 95 0 0.00 71 4 5.33 MBL2 0 genome.wustl.edu 37 10 54529049 54529049 + Nonsense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 54529049 54529049 C A SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known nonsense c.331 p.E111* 0.021 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 49 0 0.00 46 4 8.00 MC2R 0 genome.wustl.edu 37 18 13885085 13885085 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 18 13885085 13885085 G A SNP MC2R ENST00000327606 human ensembl 74_37 -1 known missense c.433 p.R145C 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 tier1 rs139218324 - 33 0 0.00 21 10 32.26 MCM5 0 genome.wustl.edu 37 22 35820214 35820214 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 35820214 35820214 G T SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.2171 p.R724L 1.000 NULL pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 tier1 - - 39 0 0.00 35 4 10.26 MED12 0 genome.wustl.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 70360680 70360682 GCA - DEL MED12 ENST00000333646 human ensembl 74_37 +1 known in_frame_del c.6249_6251 p.Q2087in_frame_del 0.997:1.000:1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 18 0 0.00 13 4 23.53 MEGF10 0 genome.wustl.edu 37 5 126769130 126769130 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 126769130 126769130 G T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.1769 p.G590V 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 35 0 0.00 20 23 53.49 MEGF8 0 genome.wustl.edu 37 19 42872627 42872627 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 42872627 42872627 G T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.6294 p.L2098 1.000 smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 33 0 0.00 33 4 10.81 MFSD11 0 genome.wustl.edu 37 17 74774312 74774312 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 74774312 74774312 C A SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known missense c.1228 p.L410I 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 11 0 0.00 19 2 9.52 MICAL3 0 genome.wustl.edu 37 22 18347523 18347523 + Frame_Shift_Del DEL A A - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 18347523 18347523 A - DEL MICAL3 ENST00000429452 human ensembl 74_37 -1 known frame_shift_del c.3119 p.F1040fs 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 44 0 0.00 26 3 10.34 MICALL1 0 genome.wustl.edu 37 22 38333099 38333099 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 38333099 38333099 C A SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.2321 p.T774K 0.944 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 33 0 0.00 30 2 6.25 MIR1303 0 genome.wustl.edu 37 5 154065383 154065383 + RNA DEL A A - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 154065383 154065383 A - DEL MIR1303 ENST00000408625 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR1303 HGNC ENSG00000221552 tier1 12 0 0.00 6 9 60.00 MKNK2 0 genome.wustl.edu 37 19 2046390 2046390 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 2046390 2046390 C T SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.217 p.D73N 0.999 pfam_LipoPS_kinase,superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 tier1 rs56158214 - 28 0 0.00 33 4 10.81 MLLT1 0 genome.wustl.edu 37 19 6222526 6222526 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 6222526 6222526 G A SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known missense c.716 p.P239L 0.995 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 tier1 - - 54 0 0.00 42 7 14.29 MLLT3 0 genome.wustl.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 20414343 20414343 A G SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.501 p.S167 0.998 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 44 0 0.00 64 8 11.11 MMP15 0 genome.wustl.edu 37 16 58075662 58075662 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 58075662 58075662 G T SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known missense c.1052 p.G351V 0.983 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 60 0 0.00 48 3 5.77 MMP24 0 genome.wustl.edu 37 20 33842521 33842521 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 33842521 33842521 G T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known missense c.781 p.D261Y 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 48 0 0.00 79 5 5.95 MMP25 0 genome.wustl.edu 37 16 3107375 3107375 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 3107375 3107375 C A SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known silent c.903 p.P301 0.841 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 47 0 0.00 26 3 10.34 MORF4L1 0 genome.wustl.edu 37 15 79179642 79179642 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 79179642 79179642 G T SNP MORF4L1 ENST00000331268 human ensembl 74_37 +1 known missense c.391 p.A131S 1.000 pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 tier1 - - 63 0 0.00 68 4 5.56 MORN3 0 genome.wustl.edu 37 12 122091089 122091089 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 122091089 122091089 G T SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known missense c.540 p.H180Q 0.060 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 tier1 - - 78 0 0.00 81 5 5.81 MS4A13 0 genome.wustl.edu 37 11 60310034 60310034 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 60310034 60310034 G T SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known nonsense c.445 p.E149* 0.024 NULL pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 tier1 - - 63 0 0.00 56 4 6.67 MSGN1 0 genome.wustl.edu 37 2 17998337 17998337 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 17998337 17998337 C T SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known silent c.552 p.R184 0.033 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 tier1 - - 64 0 0.00 31 36 53.73 MSTN 0 genome.wustl.edu 37 2 190924808 190924808 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 190924808 190924808 C T SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.727 p.G243R 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 27 0 0.00 24 2 7.69 MUC12 0 genome.wustl.edu 37 7 100637833 100637833 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 100637833 100637833 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.3989 p.S1330N 0.002 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 29 0 0.00 18 46 71.88 MUC16 0 genome.wustl.edu 37 19 9067010 9067010 + Silent SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 9067010 9067010 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.20436 p.T6812 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 25 0 0.00 13 7 35.00 MUC16 0 genome.wustl.edu 37 19 9075457 9075457 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 9075457 9075457 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.11989 p.T3997P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 60 0 0.00 46 15 24.59 MUC5B 0 genome.wustl.edu 37 11 1264031 1264031 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 1264031 1264031 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.5930 p.T1977K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 146 0 0.00 27 103 79.23 MYCBPAP 0 genome.wustl.edu 37 17 48600309 48600309 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 48600309 48600309 G T SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.1396 p.G466W 0.999 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 52 0 0.00 67 4 5.63 MYH11 0 genome.wustl.edu 37 16 15815452 15815452 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 15815452 15815452 C A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4426 p.D1476Y 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 20 0 0.00 38 2 5.00 MYO18B 0 genome.wustl.edu 37 22 26231267 26231267 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 26231267 26231267 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.3065 p.R1022L 0.330 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 33 0 0.00 28 3 9.68 NABP2 0 genome.wustl.edu 37 12 56622934 56622934 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 56622934 56622934 G T SNP NABP2 ENST00000267023 human ensembl 74_37 +1 known silent c.573 p.P191 0.995 NULL pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors NABP2 HGNC ENSG00000139579 61 0 0.00 50 4 7.02 NALCN 0 genome.wustl.edu 37 13 101936359 101936359 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 101936359 101936359 T G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1059 p.E353D 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 63 0 0.00 14 24 63.16 NASP 0 genome.wustl.edu 37 1 46073362 46073362 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 46073362 46073362 A G SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.785 p.Q262R 1.000 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 48 0 0.00 38 2 5.00 NAT16 0 genome.wustl.edu 37 7 100816688 100816688 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 100816688 100816688 G A SNP NAT16 ENST00000300303 human ensembl 74_37 -1 known silent c.426 p.F142 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 tier1 - - 11 0 0.00 8 8 50.00 NAV2 0 genome.wustl.edu 37 11 20136187 20136187 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 20136187 20136187 A G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.7187 p.D2396G 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 26 0 0.00 4 17 80.95 NAV3 0 genome.wustl.edu 37 12 78574825 78574825 + Missense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 78574825 78574825 G C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5692 p.D1898H 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 31 0 0.00 16 16 50.00 NEBL 0 genome.wustl.edu 37 10 21250693 21250693 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 21250693 21250693 C A SNP NEBL ENST00000417816 human ensembl 74_37 -1 known missense c.265 p.D89Y 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 25 0 0.00 20 3 13.04 NEMF 0 genome.wustl.edu 37 14 50251875 50251875 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 50251875 50251875 G T SNP NEMF ENST00000556925 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors NEMF HGNC ENSG00000165525 tier1 - - 74 0 0.00 64 4 5.88 NFATC2 0 genome.wustl.edu 37 20 50139887 50139887 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 50139887 50139887 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.893 p.A298V 0.831 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 14 0 0.00 24 2 7.69 NLRC5 0 genome.wustl.edu 37 16 57054745 57054745 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 57054745 57054745 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known silent c.121 p.L41 0.990 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 - - 56 0 0.00 5 34 87.18 NOD1 0 genome.wustl.edu 37 7 30492190 30492190 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 30492190 30492190 G T SNP NOD1 ENST00000423334 human ensembl 74_37 -1 known nonsense c.707 p.S236* 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 tier1 - - 51 0 0.00 52 4 7.14 NOP14 0 genome.wustl.edu 37 4 2945897 2945897 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 2945897 2945897 G T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1794 p.F598L 0.998 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 - - 44 0 0.00 48 4 7.69 NOTCH3 0 genome.wustl.edu 37 19 15281176 15281176 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 15281176 15281176 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.5080 p.R1694 1.000 pirsf_Notch 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 - - 54 0 0.00 43 4 8.51 NOTCH3 0 genome.wustl.edu 37 19 15289688 15289688 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 15289688 15289688 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known nonsense c.3783 p.C1261* 0.982 pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd_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 - - 69 0 0.00 61 4 6.15 NPBWR2 0 genome.wustl.edu 37 20 62737323 62737323 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 62737323 62737323 G T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.862 p.L288M 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 tier1 - - 43 0 0.00 95 5 5.00 NPIPB11 0 genome.wustl.edu 37 16 29394655 29394655 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 29394655 29394655 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.1598 p.S533L 0.000 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 50 0 0.00 58 25 30.12 NPIPB11 0 genome.wustl.edu 37 16 29394781 29394781 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 29394781 29394781 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.1472 p.S491L 0.000 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 23 0 0.00 25 15 37.50 NR2C2 0 genome.wustl.edu 37 3 15084803 15084803 + RNA SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 15084803 15084803 G A SNP NR2C2 ENST00000478572 human ensembl 74_37 +1 known rna NULL NULL 0.917 - - - no_errors NR2C2 HGNC ENSG00000177463 tier1 - - 72 0 0.00 50 21 28.77 NRAP 0 genome.wustl.edu 37 10 115381763 115381763 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 115381763 115381763 G T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known silent c.2658 p.V886 0.967 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 66 0 0.00 71 4 5.33 NRXN3 0 genome.wustl.edu 37 14 80328022 80328022 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 80328022 80328022 G A SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known silent c.2901 p.P967 0.969 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 - - 42 0 0.00 17 25 59.52 NSUN3 0 genome.wustl.edu 37 3 93795383 93795383 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 93795383 93795383 C A SNP NSUN3 ENST00000494128 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors NSUN3 HGNC ENSG00000178694 tier1 - - 20 0 0.00 16 4 20.00 OLFM1 0 genome.wustl.edu 37 9 137987773 137987773 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 137987773 137987773 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.364 p.V122M 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 53 0 0.00 47 6 11.11 OMA1 0 genome.wustl.edu 37 1 58946792 58946792 + Nonsense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 58946792 58946792 G A SNP OMA1 ENST00000371226 human ensembl 74_37 -1 known nonsense c.1420 p.R474* 1.000 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 tier1 - - 89 0 0.00 42 32 43.24 OR12D3 0 genome.wustl.edu 37 6 29342221 29342221 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 29342221 29342221 G T SNP OR12D3 ENST00000396806 human ensembl 74_37 -1 known missense c.844 p.P282T 0.290 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 tier1 - - 49 0 0.00 67 4 5.63 OR4N4 0 genome.wustl.edu 37 15 22383120 22383120 + Silent SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 22383120 22383120 T G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.648 p.A216 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 121 0 0.00 77 9 10.47 OR51B6 0 genome.wustl.edu 37 11 5372961 5372961 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 5372961 5372961 C T SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.224 p.T75I 0.981 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 46 0 0.00 32 2 5.88 OR51F2 0 genome.wustl.edu 37 11 4842957 4842957 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 4842957 4842957 G A SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known silent c.342 p.Q114 1.000 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 OR51F2 HGNC ENSG00000176925 tier1 - - 43 0 0.00 16 6 27.27 OR5L2 0 genome.wustl.edu 37 11 55595176 55595176 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 55595176 55595176 C T SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.482 p.S161F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 23 0 0.00 6 13 68.42 OR8D1 0 genome.wustl.edu 37 11 124180006 124180006 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 124180006 124180006 G T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known silent c.657 p.A219 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 - - 54 0 0.00 53 4 6.90 OR8H1 0 genome.wustl.edu 37 11 56057870 56057870 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 56057870 56057870 G T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.669 p.T223 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 50 0 0.00 37 2 5.13 OTUD7B 0 genome.wustl.edu 37 1 149921626 149921626 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 149921626 149921626 G T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.1029 p.S343R 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 76 0 0.00 50 4 7.41 PADI6 0 genome.wustl.edu 37 1 17720816 17720816 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 17720816 17720816 G T SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 53 0 0.00 37 4 9.76 PAK7 0 genome.wustl.edu 37 20 9561251 9561251 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 9561251 9561251 G T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.531 p.H177Q 0.301 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 tier1 - - 44 0 0.00 56 4 6.67 PARK2 0 genome.wustl.edu 37 6 161969885 161969885 + Splice_Site SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 161969885 161969885 C T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known splice_site c.1083+1 e9+1 1.000 - - - no_errors PARK2 HGNC ENSG00000185345 tier1 rs111546299 - 42 0 0.00 54 4 6.90 PARP1 0 genome.wustl.edu 37 1 226553715 226553715 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 226553715 226553715 C A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.2445 p.R815S 0.995 pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 tier1 - - 60 0 0.00 54 4 6.90 PCDH15 0 genome.wustl.edu 37 10 55626441 55626441 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 55626441 55626441 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3678 p.D1226E 0.851 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 52 0 0.00 51 3 5.56 PCDHGA5 0 genome.wustl.edu 37 5 140746060 140746060 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 140746060 140746060 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.2163 p.K721 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 66 0 0.00 24 29 54.72 PCNXL2 0 genome.wustl.edu 37 1 233134179 233134179 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 233134179 233134179 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5609 p.R1870Q 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 31 0 0.00 22 14 38.89 PDGFRB 0 genome.wustl.edu 37 5 149502666 149502666 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 149502666 149502666 G T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2122 p.R708S 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 59 0 0.00 43 4 8.51 PFAS 0 genome.wustl.edu 37 17 8167164 8167164 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 8167164 8167164 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.1701 p.L567 0.971 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 39 0 0.00 23 2 8.00 PHLDB1 0 genome.wustl.edu 37 11 118528122 118528122 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 118528122 118528122 G T SNP PHLDB1 ENST00000534140 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 51 0 0.00 35 4 10.26 PI4KAP2 0 genome.wustl.edu 37 22 21834234 21834234 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 21834234 21834234 C A SNP PI4KAP2 ENST00000450651 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC ENSG00000183506 70 0 0.00 48 4 7.55 PIGQ 0 genome.wustl.edu 37 16 632904 632904 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 632904 632904 C A SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.1553 p.P518Q 0.101 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 86 0 0.00 57 3 5.00 PITRM1 0 genome.wustl.edu 37 10 3185873 3185873 + RNA SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 3185873 3185873 G C SNP PITRM1 ENST00000464395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 39 0 0.00 28 17 37.78 PKD1 0 genome.wustl.edu 37 16 2161499 2161499 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 2161499 2161499 C A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.3669 p.V1223 0.712 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 118 0 0.00 46 5 9.80 PLCH1 0 genome.wustl.edu 37 3 155200038 155200038 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 155200038 155200038 G T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.3801 p.T1267 0.129 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 40 0 0.00 72 4 5.26 PLD2 0 genome.wustl.edu 37 17 4720301 4720301 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 4720301 4720301 C A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.1652 p.P551Q 0.730 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 tier1 - - 60 0 0.00 63 4 5.97 PLEKHA4 0 genome.wustl.edu 37 19 49362117 49362117 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 49362117 49362117 C A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.972 p.Q324H 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 69 0 0.00 72 4 5.26 PLK1S1 0 genome.wustl.edu 37 20 21195194 21195194 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 21195194 21195194 G T SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 0.338 - - - no_errors PLK1S1 HGNC ENSG00000088970 tier1 - - 65 0 0.00 57 4 6.56 PLXNA2 0 genome.wustl.edu 37 1 208217916 208217916 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 208217916 208217916 G T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.3811 p.L1271I 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 35 0 0.00 37 4 9.76 PLXNC1 0 genome.wustl.edu 37 12 94653258 94653258 + RNA DEL T T - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 94653258 94653258 T - DEL PLXNC1 ENST00000551495 human ensembl 74_37 +1 known rna NULL NULL 0.863 - - - no_errors PLXNC1 HGNC ENSG00000136040 tier1 59 0 0.00 47 19 28.79 PNPLA1 0 genome.wustl.edu 37 6 36238358 36238358 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 36238358 36238358 G A SNP PNPLA1 ENST00000457797 human ensembl 74_37 +1 known missense c.122 p.R41Q 0.999 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 tier1 - - 85 0 0.00 48 113 69.75 PODXL 0 genome.wustl.edu 37 7 131191444 131191444 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 131191444 131191444 G A SNP PODXL ENST00000541194 human ensembl 74_37 -1 known silent c.1149 p.C383 0.633 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 tier1 - - 59 0 0.00 48 4 7.55 POF1B 0 genome.wustl.edu 37 X 84563182 84563182 + Missense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 84563182 84563182 G C SNP POF1B ENST00000373145 human ensembl 74_37 -1 known missense c.998 p.S333C 0.997 NULL NULL - no_errors POF1B HGNC ENSG00000124429 tier1 - - 77 0 0.00 16 62 78.48 POLE 0 genome.wustl.edu 37 12 133244227 133244227 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 133244227 133244227 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.2181 p.C727 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 29 0 0.00 36 3 7.69 POLQ 0 genome.wustl.edu 37 3 121230840 121230840 + Nonsense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 121230840 121230840 G C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known nonsense c.1505 p.S502* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 - - 47 0 0.00 41 14 25.45 POLQ 0 genome.wustl.edu 37 3 121230739 121230739 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 121230739 121230739 G T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1606 p.L536M 1.000 pfscan_Helicase_C 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 39 0 0.00 38 3 7.32 POTEH 0 genome.wustl.edu 37 22 16279279 16279279 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 16279279 16279279 A C SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.944 p.L315R 0.103 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 tier1 - - 922 0 0.00 722 81 10.09 POU5F1B 0 genome.wustl.edu 37 8 128428573 128428573 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 128428573 128428573 G A SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known silent c.462 p.K154 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 tier1 - - 60 0 0.00 98 31 24.03 PPFIBP2 0 genome.wustl.edu 37 11 7631633 7631633 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 7631633 7631633 G T SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known nonsense c.598 p.E200* 1.000 pfam_Integrase_Tn916-type_DNA-bd_N pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 57 0 0.00 49 3 5.77 PPIP5K1 0 genome.wustl.edu 37 15 43851030 43851030 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 43851030 43851030 G T SNP PPIP5K1 ENST00000420765 human ensembl 74_37 -1 known nonsense c.3348 p.C1116* 1.000 NULL pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF - no_errors PPIP5K1 HGNC ENSG00000168781 51 0 0.00 60 4 6.15 PPL 0 genome.wustl.edu 37 16 4933515 4933515 + Missense_Mutation SNP T T A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 4933515 4933515 T A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.5141 p.K1714M 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 14 0 0.00 8 7 46.67 PPP2R3A 0 genome.wustl.edu 37 3 135721287 135721287 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 135721287 135721287 G T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.947 p.S316I 0.003 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 73 0 0.00 62 4 5.97 PRAMEF17 0 genome.wustl.edu 37 1 13718575 13718575 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 13718575 13718575 A C SNP PRAMEF17 ENST00000376098 human ensembl 74_37 +1 known missense c.1038 p.K346N 0.002 NULL NULL - no_errors PRAMEF17 HGNC ENSG00000204479 tier1 - - 79 0 0.00 32 70 68.63 PRAMEF6 0 genome.wustl.edu 37 1 13001330 13001330 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 13001330 13001330 T G SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.353 p.E118A 0.023 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 254 0 0.00 183 46 20.09 PRIM2 0 genome.wustl.edu 37 6 57512867 57512867 + RNA SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 57512867 57512867 A C SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 17 0 0.00 3 5 62.50 PRMT3 0 genome.wustl.edu 37 11 20411325 20411325 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 20411325 20411325 G T SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known missense c.200 p.C67F 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 tier1 - - 36 0 0.00 19 3 13.64 PRSS29P 0 genome.wustl.edu 37 16 1311293 1311293 + RNA SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 1311293 1311293 G A SNP PRSS29P ENST00000440800 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors PRSS29P HGNC ENSG00000196364 tier1 - - 69 0 0.00 25 4 13.79 PRSS57 0 genome.wustl.edu 37 19 685820 685820 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 685820 685820 G T SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.748 p.Q250K 0.017 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 65 0 0.00 55 4 6.78 PTK2 0 genome.wustl.edu 37 8 141810606 141810606 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 141810606 141810606 G A SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.1045 p.R349W 1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 tier1 - - 46 0 0.00 84 7 7.69 PTPRG 0 genome.wustl.edu 37 3 61975456 61975456 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 61975456 61975456 G T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.348 p.W116C 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 71 0 0.00 72 4 5.26 PTPRT 0 genome.wustl.edu 37 20 40864897 40864897 + Silent SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 40864897 40864897 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.2371 p.R791 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 52 0 0.00 66 23 25.84 QARS 0 genome.wustl.edu 37 3 49136324 49136324 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 49136324 49136324 G T SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1857 p.F619L 1.000 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 41 0 0.00 37 4 9.76 RAB40AL 0 genome.wustl.edu 37 X 102192431 102192431 + Missense_Mutation SNP G G C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 102192431 102192431 G C SNP RAB40AL ENST00000218249 human ensembl 74_37 +1 known missense c.185 p.R62P 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC ENSG00000102128 tier1 - - 36 0 0.00 25 19 43.18 RAD50 0 genome.wustl.edu 37 5 131972884 131972884 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 131972884 131972884 G A SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.3467 p.R1156H 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 - - 81 0 0.00 85 7 7.61 RALGDS 0 genome.wustl.edu 37 9 135977460 135977460 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 135977460 135977460 G T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known silent c.2289 p.L763 0.997 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 tier1 - - 61 0 0.00 68 4 5.56 RAP1GAP2 0 genome.wustl.edu 37 17 2883622 2883622 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 2883622 2883622 G T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.638 p.G213V 1.000 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 41 0 0.00 44 4 8.33 RASA3 0 genome.wustl.edu 37 13 114784304 114784304 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 114784304 114784304 G T SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.877 p.H293N 1.000 superfamily_C2_dom,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 tier1 - - 66 0 0.00 23 3 11.54 RASGRP3 0 genome.wustl.edu 37 2 33783812 33783812 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 33783812 33783812 G T SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known silent c.1779 p.L593 1.000 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 17 0 0.00 21 2 8.70 RBM24 0 genome.wustl.edu 37 6 17292540 17292540 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 17292540 17292540 G T SNP RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 - - 63 0 0.00 16 3 15.79 RBMX 0 genome.wustl.edu 37 X 135955691 135955691 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 135955691 135955691 G T SNP RBMX ENST00000496459 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMX HGNC ENSG00000147274 tier1 - - 9 0 0.00 19 6 24.00 RCC2 0 genome.wustl.edu 37 1 17755608 17755608 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 17755608 17755608 G T SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.373 p.Q125K 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 tier1 - - 75 0 0.00 46 4 8.00 RELN 0 genome.wustl.edu 37 7 103234809 103234809 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 103234809 103234809 G T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3670 p.Q1224K 1.000 superfamily_Growth_fac_rcpt_N_dom 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 - - 45 0 0.00 60 4 6.25 REN 0 genome.wustl.edu 37 1 204135349 204135349 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 204135349 204135349 G T SNP REN ENST00000272190 human ensembl 74_37 -1 known missense c.73 p.P25T 0.904 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 tier1 - - 57 0 0.00 45 4 8.16 RFX3 0 genome.wustl.edu 37 9 3270393 3270393 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 3270393 3270393 G T SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known silent c.1335 p.P445 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 74 0 0.00 53 4 7.02 RIC8A 0 genome.wustl.edu 37 11 212896 212896 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 212896 212896 G T SNP RIC8A ENST00000325207 human ensembl 74_37 +1 known missense c.1288 p.G430C 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,prints_Synembryn pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 tier1 - - 29 0 0.00 32 4 11.11 RNF220 0 genome.wustl.edu 37 1 45115240 45115240 + RNA SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 45115240 45115240 A G SNP RNF220 ENST00000474956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF220 HGNC ENSG00000187147 tier1 - - 49 0 0.00 35 7 16.67 RNPC3 0 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 27 0 0.00 26 9 25.71 RPA3-AS1 0 genome.wustl.edu 37 7 7917073 7917073 + Missense_Mutation SNP C C G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 7917073 7917073 C G SNP RPA3-AS1 ENST00000406829 human ensembl 74_37 +1 novel missense c.213 p.D71E 1.000 NULL NULL - no_errors RPA3-AS1 HGNC ENSG00000219545 tier1 - - 44 0 0.00 26 20 43.48 RPAP3 0 genome.wustl.edu 37 12 48080646 48080646 + Silent SNP T T C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 48080646 48080646 T C SNP RPAP3 ENST00000005386 human ensembl 74_37 -1 known silent c.909 p.E303 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 tier1 - - 61 0 0.00 26 30 53.57 RRAGA 0 genome.wustl.edu 37 9 19050221 19050221 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 19050221 19050221 G T SNP RRAGA ENST00000380527 human ensembl 74_37 +1 known missense c.564 p.E188D 1.000 pfam_Gtr1_RagA,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGA HGNC ENSG00000155876 tier1 - - 37 0 0.00 27 3 10.00 RRP12 0 genome.wustl.edu 37 10 99125868 99125868 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 99125868 99125868 T G SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.3514 p.K1172Q 0.979 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 66 0 0.00 21 11 34.38 RTTN 0 genome.wustl.edu 37 18 67755342 67755342 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 18 67755342 67755342 G T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.4185 p.T1395 0.811 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 69 0 0.00 45 4 8.16 SARS2 0 genome.wustl.edu 37 19 39408448 39408448 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 39408448 39408448 G T SNP SARS2 ENST00000600042 human ensembl 74_37 -1 known missense c.1082 p.P361H 0.349 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 33 0 0.00 36 3 7.69 SBNO2 0 genome.wustl.edu 37 19 1109592 1109592 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 1109592 1109592 G A SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known silent c.3129 p.S1043 0.821 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 27 0 0.00 14 4 22.22 SCN4A 0 genome.wustl.edu 37 17 62019124 62019124 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 62019124 62019124 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.4518 p.Y1506 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 71 0 0.00 43 16 27.12 SDK1 0 genome.wustl.edu 37 7 3990593 3990593 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 3990593 3990593 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.886 p.V296L 0.970 pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 56 0 0.00 48 3 5.88 SEC31A 0 genome.wustl.edu 37 4 83772725 83772725 + Frame_Shift_Del DEL T T - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 83772725 83772725 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.2187 p.A730fs 0.780 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 tier1 27 0 0.00 18 2 10.00 SEL1L 0 genome.wustl.edu 37 14 81943463 81943463 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 81943463 81943463 G T SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known nonsense c.2238 p.Y746* 1.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 62 0 0.00 52 3 5.45 SF3B3 0 genome.wustl.edu 37 16 70590174 70590174 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 70590174 70590174 G T SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known silent c.1803 p.R601 0.964 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 tier1 - - 46 0 0.00 43 4 8.51 SHARPIN 0 genome.wustl.edu 37 8 145154940 145154940 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 8 145154940 145154940 G T SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known missense c.409 p.P137T 0.180 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 tier1 - - 47 0 0.00 68 4 5.56 SHOC2 0 genome.wustl.edu 37 10 112764519 112764519 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 112764519 112764519 C A SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known silent c.1128 p.S376 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 50 0 0.00 51 3 5.45 SIRT3 0 genome.wustl.edu 37 11 233095 233095 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 233095 233095 C A SNP SIRT3 ENST00000382743 human ensembl 74_37 -1 known missense c.594 p.E198D 1.000 pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT3 HGNC ENSG00000142082 tier1 - - 63 0 0.00 70 4 5.41 SKI 0 genome.wustl.edu 37 1 2234478 2234478 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 2234478 2234478 C A SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1031 p.P344H 0.911 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 tier1 - - 46 0 0.00 29 4 12.12 SLC10A6 0 genome.wustl.edu 37 4 87769968 87769968 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 87769968 87769968 G T SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known missense c.301 p.L101I 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 - - 40 0 0.00 29 4 12.12 SLC26A4 0 genome.wustl.edu 37 7 107303846 107303846 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 107303846 107303846 G T SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.270 p.S90 0.009 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 - - 60 0 0.00 60 4 6.25 SLC4A1 0 genome.wustl.edu 37 17 42336630 42336630 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 42336630 42336630 C A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known silent c.777 p.P259 0.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 51 0 0.00 34 2 5.56 SLC6A10P 0 genome.wustl.edu 37 16 32889061 32889061 + RNA SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 32889061 32889061 C A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 94 0 0.00 79 10 11.24 SLC6A18 0 genome.wustl.edu 37 5 1244805 1244805 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 1244805 1244805 C T SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known silent c.1579 p.L527 0.956 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 tier1 - - 37 0 0.00 62 4 6.06 SMARCD1 0 genome.wustl.edu 37 12 50483697 50483697 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 50483697 50483697 G T SNP SMARCD1 ENST00000394963 human ensembl 74_37 +1 known missense c.802 p.D268Y 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 tier1 - - 41 0 0.00 50 4 7.41 SMARCD3 0 genome.wustl.edu 37 7 150939280 150939280 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 150939280 150939280 C A SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known missense c.618 p.K206N 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 55 0 0.00 30 2 6.25 SMG7 0 genome.wustl.edu 37 1 183510187 183510187 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 183510187 183510187 G T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.1364 p.R455L 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 72 0 0.00 57 3 5.00 SNORD116-24 0 genome.wustl.edu 37 15 25339273 25339273 + RNA SNP T T C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 25339273 25339273 T C SNP SNORD116-24 ENST00000384549 human ensembl 74_37 +1 known rna NULL NULL 0.859 - - - no_errors SNORD116-24 HGNC ENSG00000207279 tier1 - - 122 0 0.00 88 25 22.12 SNRNP40 0 genome.wustl.edu 37 1 31766179 31766179 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 31766179 31766179 G T SNP SNRNP40 ENST00000446633 human ensembl 74_37 -1 known missense c.158 p.S53Y 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 SNRNP40 HGNC ENSG00000060688 tier1 - - 46 0 0.00 54 4 6.90 SP140L 0 genome.wustl.edu 37 2 231235679 231235679 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 231235679 231235679 A G SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.580 p.M194V 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 tier1 - - 45 0 0.00 36 10 21.74 SPDL1 0 genome.wustl.edu 37 5 169015514 169015514 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 169015514 169015514 G T SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known nonsense c.94 p.E32* 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 42 0 0.00 32 3 8.57 SPHKAP 0 genome.wustl.edu 37 2 228883255 228883255 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 228883255 228883255 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2315 p.S772Y 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 18 0 0.00 33 3 8.33 SPNS3 0 genome.wustl.edu 37 17 4356362 4356362 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 4356362 4356362 G T SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.975 p.L325F 0.965 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 tier1 - - 38 0 0.00 55 4 6.67 SPRED1 0 genome.wustl.edu 37 15 38643390 38643390 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 38643390 38643390 G T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.860 p.S287I 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 tier1 - - 81 0 0.00 83 5 5.68 SPZ1 0 genome.wustl.edu 37 5 79617017 79617017 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 79617017 79617017 G T SNP SPZ1 ENST00000296739 human ensembl 74_37 +1 known missense c.983 p.C328F 0.955 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 tier1 - - 21 0 0.00 11 7 38.89 SRP14-AS1 0 genome.wustl.edu 37 15 40357981 40357981 + RNA SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 40357981 40357981 A T SNP SRP14-AS1 ENST00000504245 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors SRP14-AS1 HGNC ENSG00000248508 tier1 - - 44 0 0.00 58 5 7.94 SSU72 0 genome.wustl.edu 37 1 1500170 1500172 + In_Frame_Del DEL AAG AAG - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 1500170 1500172 AAG - DEL SSU72 ENST00000291386 human ensembl 74_37 -1 known in_frame_del c.207_205 p.L69in_frame_del 1.000:1.000:1.000 pfam_RNA_pol_II_suA pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF - no_errors SSU72 HGNC ENSG00000160075 tier1 63 0 0.00 35 9 20.45 ST3GAL3 0 genome.wustl.edu 37 1 44363949 44363949 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 44363949 44363949 G T SNP ST3GAL3 ENST00000262915 human ensembl 74_37 +1 known missense c.647 p.R216L 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 39 0 0.00 30 2 6.25 ST6GAL2 0 genome.wustl.edu 37 2 107460353 107460353 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 107460353 107460353 G T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.81 p.F27L 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 64 0 0.00 38 20 34.48 STK35 0 genome.wustl.edu 37 20 2097325 2097325 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 2097325 2097325 G T SNP STK35 ENST00000381482 human ensembl 74_37 +1 known silent c.906 p.L302 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK35 HGNC ENSG00000125834 tier1 - - 35 0 0.00 29 4 12.12 STK40 0 genome.wustl.edu 37 1 36814305 36814305 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 36814305 36814305 G A SNP STK40 ENST00000373130 human ensembl 74_37 -1 known silent c.750 p.L250 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK40 HGNC ENSG00000196182 tier1 - - 39 0 0.00 12 20 62.50 STX1A 0 genome.wustl.edu 37 7 73114766 73114766 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 73114766 73114766 C T SNP STX1A ENST00000222812 human ensembl 74_37 -1 known missense c.838 p.A280T 1.000 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1A HGNC ENSG00000106089 tier1 - - 27 0 0.00 12 11 47.83 STX1B 0 genome.wustl.edu 37 16 31012923 31012923 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 31012923 31012923 G A SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.32 p.A11V 1.000 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 tier1 - - 38 0 0.00 25 18 41.86 SUMF2 0 genome.wustl.edu 37 7 56136227 56136227 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 56136227 56136227 G T SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known missense c.177 p.M59I 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 108 0 0.00 75 4 5.06 SUV420H1 0 genome.wustl.edu 37 11 67939074 67939074 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 67939074 67939074 G T SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known silent c.756 p.V252 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 66 0 0.00 70 4 5.41 SYNE1 0 genome.wustl.edu 37 6 152651069 152651069 + Silent SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 152651069 152651069 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.14751 p.L4917 0.150 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 21 0 0.00 23 2 8.00 TBC1D2B 0 genome.wustl.edu 37 15 78295688 78295688 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 78295688 78295688 G T SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known missense c.2533 p.L845I 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 63 0 0.00 52 4 7.14 TBC1D4 0 genome.wustl.edu 37 13 75880522 75880522 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 75880522 75880522 C A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.2679 p.W893C 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 tier1 - - 51 0 0.00 26 3 10.34 TBP 0 genome.wustl.edu 37 6 170871034 170871034 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 170871034 170871034 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.210 p.Q70 0.924 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 62 0 0.00 56 9 13.85 TENM4 0 genome.wustl.edu 37 11 78380678 78380678 + Missense_Mutation SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 78380678 78380678 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6712 p.R2238W 0.693 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 48 0 0.00 11 38 77.55 TGFBR2 0 genome.wustl.edu 37 3 30729915 30729915 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 30729915 30729915 G T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1511 p.R504L 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 30 0 0.00 28 3 9.68 THRA 0 genome.wustl.edu 37 17 38245685 38245685 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 38245685 38245685 G T SNP THRA ENST00000450525 human ensembl 74_37 +1 known missense c.1209 p.E403D 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors THRA HGNC ENSG00000126351 47 0 0.00 31 4 11.43 THSD4 0 genome.wustl.edu 37 15 72039269 72039269 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 72039269 72039269 G T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2129 p.R710L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 33 0 0.00 46 4 8.00 TLE2 0 genome.wustl.edu 37 19 3000648 3000648 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 3000648 3000648 G T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.2121 p.F707L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 tier1 - - 58 0 0.00 54 4 6.90 TMEM128 0 genome.wustl.edu 37 4 4242077 4242077 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 4242077 4242077 G T SNP TMEM128 ENST00000382753 human ensembl 74_37 -1 known silent c.369 p.T123 0.959 NULL NULL - no_errors TMEM128 HGNC ENSG00000132406 tier1 - - 54 0 0.00 52 4 7.14 TMEM186 0 genome.wustl.edu 37 16 8890320 8890320 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 8890320 8890320 G T SNP TMEM186 ENST00000333050 human ensembl 74_37 -1 known nonsense c.131 p.S44* 0.003 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 tier1 - - 35 0 0.00 54 4 6.90 TMEM260 0 genome.wustl.edu 37 14 57083906 57083906 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 14 57083906 57083906 G T SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.947 p.R316I 0.342 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 tier1 - - 67 0 0.00 58 4 6.45 TNNC1 0 genome.wustl.edu 37 3 52485526 52485526 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 52485526 52485526 A G SNP TNNC1 ENST00000232975 human ensembl 74_37 -1 known missense c.335 p.I112T 0.997 pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors TNNC1 HGNC ENSG00000114854 tier1 - - 15 0 0.00 19 13 40.62 TNPO3 0 genome.wustl.edu 37 7 128655122 128655122 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 128655122 128655122 G T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known missense c.463 p.H155N 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 58 0 0.00 65 4 5.80 TOM1L2 0 genome.wustl.edu 37 17 17810778 17810778 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 17810778 17810778 G T SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known silent c.120 p.I40 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 tier1 - - 45 0 0.00 55 4 6.78 TOP2A 0 genome.wustl.edu 37 17 38562675 38562675 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 38562675 38562675 G T SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.1914 p.F638L 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 52 0 0.00 45 3 6.25 TP53 0 genome.wustl.edu 37 17 7578502 7578502 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 7578502 7578502 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.428 p.V143A 0.902 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 43 0 0.00 11 11 50.00 TPTE 0 genome.wustl.edu 37 21 10944701 10944702 + Frame_Shift_Ins INS - - C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 21 10944701 10944702 - C INS TPTE ENST00000361285 human ensembl 74_37 -1 known frame_shift_ins c.533_532 p.F178fs 0.288:0.231 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 211 0 0.00 91 38 29.46 TRABD2A 0 genome.wustl.edu 37 2 85049137 85049137 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 85049137 85049137 G A SNP TRABD2A ENST00000409520 human ensembl 74_37 -1 known silent c.1422 p.H474 0.712 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 tier1 - - 51 0 0.00 37 12 24.49 TRAF3IP3 0 genome.wustl.edu 37 1 209946298 209946298 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 209946298 209946298 G T SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.708 p.Q236H 0.996 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 tier1 - - 34 0 0.00 39 4 9.30 TRIM10 0 genome.wustl.edu 37 6 30123537 30123537 + Splice_Site SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 30123537 30123537 C A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known splice_site c.896-1 e6-1 1.000 - - - no_errors TRIM10 HGNC ENSG00000204613 tier1 - - 55 0 0.00 79 5 5.95 TRIM27 0 genome.wustl.edu 37 6 28879454 28879454 + RNA SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 28879454 28879454 G T SNP TRIM27 ENST00000498117 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 61 0 0.00 73 4 5.13 TRIM37 0 genome.wustl.edu 37 17 57138450 57138450 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 57138450 57138450 C A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.962 p.R321L 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 tier1 - - 75 0 0.00 42 4 8.70 TRIM49 0 genome.wustl.edu 37 11 89537238 89537238 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 89537238 89537238 C T SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.400 p.E134K 0.012 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 87 0 0.00 69 37 34.91 TRIOBP 0 genome.wustl.edu 37 22 38121396 38121396 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 38121396 38121396 G T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.2833 p.D945Y 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 29 0 0.00 14 3 17.65 TRIOBP 0 genome.wustl.edu 37 22 38130773 38130773 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 22 38130773 38130773 G T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.4430 p.W1477L 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 75 0 0.00 55 3 5.17 TRPC4 0 genome.wustl.edu 37 13 38237742 38237742 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 13 38237742 38237742 G T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.1499 p.S500Y 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 40 0 0.00 25 2 7.41 TRPM6 0 genome.wustl.edu 37 9 77377027 77377027 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 9 77377027 77377027 C A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.4560 p.Q1520H 0.306 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 37 0 0.00 74 8 9.76 TRPV1 0 genome.wustl.edu 37 17 3494370 3494370 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 17 3494370 3494370 G T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known silent c.492 p.L164 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 tier1 - - 24 0 0.00 27 4 12.90 TSKS 0 genome.wustl.edu 37 19 50245277 50245277 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 50245277 50245277 G T SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.1362 p.S454R 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 41 0 0.00 54 3 5.26 TTLL4 0 genome.wustl.edu 37 2 219612870 219612870 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 219612870 219612870 C A SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.2421 p.H807Q 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 tier1 - - 36 0 0.00 42 4 8.70 TTN 0 genome.wustl.edu 37 2 179418646 179418646 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 179418646 179418646 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.81488 p.P27163H 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 44 0 0.00 31 4 11.43 TTN 0 genome.wustl.edu 37 2 179431031 179431031 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 179431031 179431031 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.72124 p.A24042S 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 66 0 0.00 38 15 27.78 TTN 0 genome.wustl.edu 37 2 179479678 179479678 + Missense_Mutation SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 179479678 179479678 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40952 p.L13651R 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 45 0 0.00 26 18 40.91 TTN 0 genome.wustl.edu 37 2 179642228 179642228 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 179642228 179642228 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4564 p.P1522T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 42 0 0.00 53 4 7.02 TXLNA 0 genome.wustl.edu 37 1 32647154 32647154 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 32647154 32647154 G T SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known nonsense c.481 p.E161* 1.000 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 tier1 - - 29 0 0.00 19 3 13.64 TXNRD1 0 genome.wustl.edu 37 12 104682731 104682731 + Silent SNP A A C TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 104682731 104682731 A C SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known silent c.327 p.G109 0.429 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 51 0 0.00 37 21 36.21 UBFD1 0 genome.wustl.edu 37 16 23568714 23568714 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 23568714 23568714 C T SNP UBFD1 ENST00000219638 human ensembl 74_37 +1 known missense c.323 p.T108I 0.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 tier1 - - 19 0 0.00 13 5 27.78 UBR1 0 genome.wustl.edu 37 15 43330047 43330047 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 43330047 43330047 G T SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.1946 p.P649H 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 46 0 0.00 66 4 5.71 UHRF1BP1L 0 genome.wustl.edu 37 12 100433495 100433495 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 100433495 100433495 C T SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.4154 p.G1385E 0.014 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 34 0 0.00 22 4 15.38 UPP2 0 genome.wustl.edu 37 2 158991272 158991272 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 158991272 158991272 G T SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.995 p.C332F 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 tier1 - - 70 0 0.00 47 4 7.84 USH2A 0 genome.wustl.edu 37 1 216251512 216251512 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 216251512 216251512 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5491 p.L1831M 0.663 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 35 0 0.00 51 3 5.56 USP15 0 genome.wustl.edu 37 12 62783638 62783638 + Nonsense_Mutation SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 62783638 62783638 A T SNP USP15 ENST00000280377 human ensembl 74_37 +1 known nonsense c.1714 p.R572* 1.000 pfam_Peptidase_C19/C67,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 tier1 - - 61 0 0.00 25 21 45.65 USP17L17 0 genome.wustl.edu 37 4 9245636 9245636 + Missense_Mutation SNP A A T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 4 9245636 9245636 A T SNP USP17L17 ENST00000511568 human ensembl 74_37 +1 novel missense c.32 p.E11V 0.225 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L17 HGNC ENSG00000249104 tier1 - - 166 0 0.00 295 33 10.06 USP29 0 genome.wustl.edu 37 19 57641629 57641629 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 57641629 57641629 T G SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1586 p.V529G 0.992 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 tier1 - - 39 0 0.00 26 12 31.58 UTY 0 genome.wustl.edu 37 Y 15448130 15448130 + Frame_Shift_Del DEL T T - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 Y 15448130 15448130 T - DEL UTY ENST00000382896 human ensembl 74_37 -1 known frame_shift_del c.1991 p.Q664fs 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 tier1 29 0 0.00 7 2 22.22 VCAN 0 genome.wustl.edu 37 5 82833726 82833726 + Nonsense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 82833726 82833726 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known nonsense c.4904 p.S1635* 0.549 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 46 0 0.00 30 2 6.25 VIP 0 genome.wustl.edu 37 6 153073408 153073408 + Silent SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 153073408 153073408 T G SNP VIP ENST00000367244 human ensembl 74_37 +1 known silent c.96 p.P32 0.151 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 tier1 - - 36 0 0.00 30 21 41.18 VWA3B 0 genome.wustl.edu 37 2 98709643 98709643 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 98709643 98709643 G T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known nonsense c.88 p.E30* 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 41 0 0.00 35 2 5.41 VWF 0 genome.wustl.edu 37 12 6167091 6167091 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 12 6167091 6167091 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.1653 p.N551 0.145 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 93 0 0.00 53 79 59.85 WBSCR17 0 genome.wustl.edu 37 7 70597831 70597831 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 70597831 70597831 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.43 p.L15V 0.996 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 62 0 0.00 28 20 40.82 WBSCR27 0 genome.wustl.edu 37 7 73255498 73255498 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 73255498 73255498 G T SNP WBSCR27 ENST00000297873 human ensembl 74_37 -1 known missense c.154 p.R52S 0.116 pfam_UbiE/COQ5_MeTrFase pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase - no_errors WBSCR27 HGNC ENSG00000165171 tier1 - - 68 0 0.00 69 4 5.48 WDFY4 0 genome.wustl.edu 37 10 50034933 50034933 + Frame_Shift_Del DEL T T - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 50034933 50034933 T - DEL WDFY4 ENST00000325239 human ensembl 74_37 +1 known frame_shift_del c.6200 p.L2068fs 0.996 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 tier1 30 0 0.00 36 2 5.26 WDPCP 0 genome.wustl.edu 37 2 63660881 63660881 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 2 63660881 63660881 C T SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.823 p.E275K 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 tier1 - - 41 0 0.00 32 11 25.58 WTAP 0 genome.wustl.edu 37 6 160176454 160176454 + Silent SNP G G A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 160176454 160176454 G A SNP WTAP ENST00000358372 human ensembl 74_37 +1 known silent c.1002 p.A334 1.000 NULL NULL - no_errors WTAP HGNC ENSG00000146457 tier1 - - 60 0 0.00 38 39 50.65 ZBED5 0 genome.wustl.edu 37 11 10874583 10874583 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 10874583 10874583 G T SNP ZBED5 ENST00000413761 human ensembl 74_37 -1 putative missense c.1910 p.P637H 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 tier1 - - 37 0 0.00 44 4 8.33 ZC3H12B 0 genome.wustl.edu 37 X 64718911 64718911 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 X 64718911 64718911 A G SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.781 p.K261E 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 35 0 0.00 8 26 76.47 ZCCHC9 0 genome.wustl.edu 37 5 80604424 80604424 + Silent SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 5 80604424 80604424 C T SNP ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known silent c.429 p.C143 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 tier1 - - 82 0 0.00 56 4 6.67 ZDHHC23 0 genome.wustl.edu 37 3 113667754 113667754 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 3 113667754 113667754 G T SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known missense c.105 p.K35N 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 67 0 0.00 61 4 6.15 ZFP91 0 genome.wustl.edu 37 11 58381734 58381734 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 11 58381734 58381734 G T SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known missense c.1020 p.K340N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 29 0 0.00 17 2 10.53 ZMYND12 0 genome.wustl.edu 37 1 42901085 42901085 + RNA SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 42901085 42901085 A G SNP ZMYND12 ENST00000475426 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMYND12 HGNC ENSG00000066185 tier1 - - 24 0 0.00 26 8 23.53 ZNF174 0 genome.wustl.edu 37 16 3458450 3458450 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 16 3458450 3458450 C A SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.755 p.A252E 0.004 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 tier1 - - 82 0 0.00 35 25 41.67 ZNF43 0 genome.wustl.edu 37 19 21990665 21990665 + Missense_Mutation SNP T T G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 21990665 21990665 T G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.2174 p.K725T 0.682 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 tier1 - - 26 0 0.00 17 14 45.16 ZNF607 0 genome.wustl.edu 37 19 38189849 38189849 + Missense_Mutation SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 38189849 38189849 A G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.1183 p.C395R 0.835 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 ZNF607 HGNC ENSG00000198182 69 0 0.00 57 4 6.56 ZNF609 0 genome.wustl.edu 37 15 64792330 64792330 + Nonsense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 15 64792330 64792330 G T SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known nonsense c.712 p.E238* 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 - - 55 0 0.00 52 4 7.14 ZNF644 0 genome.wustl.edu 37 1 91405548 91405548 + Silent SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 1 91405548 91405548 G T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known silent c.1363 p.R455 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 45 0 0.00 35 2 5.41 ZNF677 0 genome.wustl.edu 37 19 53741574 53741574 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 19 53741574 53741574 G T SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.406 p.H136N 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 ZNF677 HGNC ENSG00000197928 tier1 - - 51 0 0.00 57 4 6.45 ZNF680 0 genome.wustl.edu 37 7 63982352 63982352 + Silent SNP A A G TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 7 63982352 63982352 A G SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known silent c.780 p.H260 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF680 HGNC ENSG00000173041 tier1 - - 51 0 0.00 25 22 46.81 ZNF831 0 genome.wustl.edu 37 20 57766949 57766949 + Missense_Mutation SNP C C T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 20 57766949 57766949 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.875 p.A292V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 59 0 0.00 70 13 15.66 ZRANB1 0 genome.wustl.edu 37 10 126671772 126671772 + Frame_Shift_Del DEL T T - TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 10 126671772 126671772 T - DEL ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_del c.1577 p.F527fs 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 tier1 27 0 0.00 26 2 7.14 ZSCAN9 0 genome.wustl.edu 37 6 28200505 28200505 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 18c1ba92-261a-4755-99ac-e9b0f4a44d0c b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5 6 28200505 28200505 G T SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.734 p.W245L 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN9 HGNC ENSG00000137185 tier1 - - 44 0 0.00 72 4 5.26