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 ABCB1 0 genome.wustl.edu 37 7 87225100 87225103 + Frame_Shift_Del DEL AGTT AGTT - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 AGTT AGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 87225100 87225103 AGTT - DEL ABCB1 ENST00000265724 human ensembl 74_37 -1 known frame_shift_del c.99_96 p.T33fs 0.998:1.000:1.000:1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 50 0 0.00 30 7 18.92 ACOX3 0 genome.wustl.edu 37 4 8394125 8394125 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 8394125 8394125 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.1235 p.S412L 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 tier1 - - 308 0 0.00 239 21 8.08 ADAMTS15 0 genome.wustl.edu 37 11 130332450 130332450 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 130332450 130332450 C T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known silent c.1317 p.G439 0.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 tier1 - - 73 0 0.00 50 14 21.88 ADCY8 0 genome.wustl.edu 37 8 131916177 131916177 + Silent SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 131916177 131916177 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1752 p.T584 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 189 0 0.00 173 18 9.42 ALMS1 0 genome.wustl.edu 37 2 73829377 73829377 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 73829377 73829377 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.12177 p.K4059 0.999 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 58 0 0.00 63 27 30.00 AMBRA1 0 genome.wustl.edu 37 11 46563752 46563752 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 46563752 46563752 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.1815 p.S605 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 39 0 0.00 11 12 52.17 ANGPT1 0 genome.wustl.edu 37 8 108334260 108334260 + Silent SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 108334260 108334260 A G SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.672 p.T224 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 73 0 0.00 91 7 7.14 APOB 0 genome.wustl.edu 37 2 21231486 21231486 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 21231486 21231486 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.8254 p.V2752L 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 253 0 0.00 100 28 21.88 ARHGAP30 0 genome.wustl.edu 37 1 161019053 161019053 + Frame_Shift_Del DEL G G - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 161019053 161019053 G 0 DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_del c.1758 p.S587fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 191 0 0.00 115 11 8.73 ARHGAP35 0 genome.wustl.edu 37 19 47424159 47424159 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 47424159 47424159 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.2227 p.G743R 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 36 0 0.00 13 13 50.00 ARPP21 0 genome.wustl.edu 37 3 35758821 35758821 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 35758821 35758821 G C SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.865 p.E289Q 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 116 0 0.00 78 15 16.13 ATCAY 0 genome.wustl.edu 37 19 3905589 3905589 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3905589 3905589 C T SNP ATCAY ENST00000301260 human ensembl 74_37 +1 known silent c.294 p.I98 0.705 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 tier1 - - 153 0 0.00 40 71 63.96 ATN1 0 genome.wustl.edu 37 12 7045535 7045535 + Frame_Shift_Del DEL C C - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 7045535 7045535 C 0 DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_del c.1105 p.M371fs 0.684 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 228 0 0.00 158 13 7.60 BAZ1B 0 genome.wustl.edu 37 7 72892862 72892862 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 72892862 72892862 G C SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.929 p.T310S 0.950 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 tier1 - - 107 0 0.00 38 17 30.91 BCAT2 0 genome.wustl.edu 37 19 49303279 49303279 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 49303279 49303279 C T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.490 p.G164S 0.553 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 tier1 - - 36 0 0.00 19 20 51.28 BDP1 0 genome.wustl.edu 37 5 70835476 70835476 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 70835476 70835476 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.6022 p.V2008I 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 70 0 0.00 28 9 24.32 BICD2 0 genome.wustl.edu 37 9 95491355 95491355 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 95491355 95491355 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.404 p.T135M 0.998 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 - - 99 0 0.00 43 5 10.42 BRINP1 0 genome.wustl.edu 37 9 121929771 121929771 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 121929771 121929771 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1877 p.P626H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 210 0 0.00 132 7 5.04 BTN2A1 0 genome.wustl.edu 37 6 26468672 26468672 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 26468672 26468672 G T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.1479 p.E493D 0.996 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 tier1 - - 142 0 0.00 100 6 5.66 C15orf39 0 genome.wustl.edu 37 15 75498437 75498437 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 75498437 75498437 C T SNP C15orf39 ENST00000360639 human ensembl 74_37 +1 known silent c.48 p.G16 0.999 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 25 0 0.00 16 2 11.11 CCDC8 0 genome.wustl.edu 37 19 46915631 46915631 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 46915631 46915631 C T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.437 p.S146N 1.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 tier1 - - 101 0 0.00 48 9 15.79 CEPT1 0 genome.wustl.edu 37 1 111724892 111724892 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 111724892 111724892 C T SNP CEPT1 ENST00000357172 human ensembl 74_37 +1 known silent c.798 p.F266 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 tier1 - - 88 0 0.00 20 25 55.56 CHD2 0 genome.wustl.edu 37 15 93557943 93557943 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 93557943 93557943 C G SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.4710 p.D1570E 0.993 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 - - 90 0 0.00 64 13 16.88 CKAP5 0 genome.wustl.edu 37 11 46819477 46819477 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 46819477 46819477 C T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.1216 p.D406N 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 70 0 0.00 48 11 18.64 CNOT6L 0 genome.wustl.edu 37 4 78694268 78694268 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 78694268 78694268 G A SNP CNOT6L ENST00000264903 human ensembl 74_37 -1 known missense c.367 p.R123W 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 tier1 - - 29 0 0.00 30 5 14.29 COL14A1 0 genome.wustl.edu 37 8 121292216 121292216 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 121292216 121292216 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3524 p.S1175L 0.986 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 72 0 0.00 83 7 7.78 COL18A1-AS1 0 genome.wustl.edu 37 21 46841474 46841474 + RNA SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 21 46841474 46841474 A C SNP COL18A1-AS1 ENST00000397787 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors COL18A1-AS1 HGNC ENSG00000183535 tier1 - - 85 0 0.00 40 5 11.11 COL6A2 0 genome.wustl.edu 37 21 47549115 47549115 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 21 47549115 47549115 C G SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known missense c.2467 p.P823A 0.005 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 165 0 0.00 105 11 9.48 COPA 0 genome.wustl.edu 37 1 160261191 160261191 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 160261191 160261191 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.3381 p.F1127 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 tier1 - - 102 0 0.00 78 8 9.30 CRB1 0 genome.wustl.edu 37 1 197316519 197316519 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 197316519 197316519 A T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.898 p.T300S 0.987 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 159 0 0.00 97 6 5.83 CRB1 0 genome.wustl.edu 37 1 197397015 197397015 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 197397015 197397015 G C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2560 p.D854H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 74 0 0.00 42 12 22.22 CSMD3 0 genome.wustl.edu 37 8 113668544 113668544 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 113668544 113668544 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2843 p.V948G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 57 13 18.57 CUEDC2 0 genome.wustl.edu 37 10 104183665 104183665 + RNA SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 104183665 104183665 A G SNP CUEDC2 ENST00000465409 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CUEDC2 HGNC ENSG00000107874 tier1 - - 48 0 0.00 30 9 23.08 CYLC2 0 genome.wustl.edu 37 9 105767641 105767641 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 105767641 105767641 A C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.728 p.K243T 0.039 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 73 0 0.00 43 8 15.69 DDI2 0 genome.wustl.edu 37 1 15959937 15959937 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 15959937 15959937 A C SNP DDI2 ENST00000480945 human ensembl 74_37 +1 known missense c.509 p.K170T 1.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin_dom,superfamily_Peptidase_aspartic_dom,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 tier1 - - 273 0 0.00 277 79 22.19 DDX39B 0 genome.wustl.edu 37 6 31498039 31498039 + RNA DEL A A - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 31498039 31498039 A - DEL DDX39B ENST00000462421 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors DDX39B HGNC ENSG00000198563 tier1 8 0 0.00 5 2 28.57 DNAH11 0 genome.wustl.edu 37 7 21603827 21603827 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 21603827 21603827 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.1006 p.E336K 0.998 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 70 0 0.00 37 4 9.76 DNAH7 0 genome.wustl.edu 37 2 196825170 196825170 + Missense_Mutation SNP T T A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 196825170 196825170 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2705 p.E902V 1.000 pfam_Dynein_heavy_dom-2 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 - - 160 0 0.00 106 46 30.26 DNAH8 0 genome.wustl.edu 37 6 38881725 38881725 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 38881725 38881725 C G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.9309 p.D3103E 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 66 0 0.00 33 4 10.81 DOCK2 0 genome.wustl.edu 37 5 169435576 169435576 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 169435576 169435576 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3148 p.A1050T 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF 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 - - 80 0 0.00 19 23 54.76 DSTYK 0 genome.wustl.edu 37 1 205156703 205156703 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 205156703 205156703 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.497 p.A166V 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 tier1 rs143877075 - 62 0 0.00 28 15 34.88 DUOX2 0 genome.wustl.edu 37 15 45400422 45400422 + Splice_Site SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 45400422 45400422 T C SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known splice_site c.1399-2 e12-2 1.000 - - - no_errors DUOX2 HGNC ENSG00000140279 90 0 0.00 50 4 7.41 EEF2 0 genome.wustl.edu 37 19 3979372 3979372 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3979372 3979372 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known silent c.1668 p.I556 1.000 superfamily_EFG_III-V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 tier1 - - 201 0 0.00 152 10 6.17 ENSG00000197210 0 genome.wustl.edu 37 22 21470273 21470273 + RNA SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 21470273 21470273 C T SNP ENSG00000197210 ENST00000420508 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KB-1592A4.15 Clone_based_vega_gene ENSG00000197210 tier1 rs201593827 - 9 0 0.00 7 6 46.15 ERBB2IP 0 genome.wustl.edu 37 5 65350294 65350294 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 65350294 65350294 C G SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.3148 p.P1050A 0.873 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 107 0 0.00 57 27 32.14 EVC2 0 genome.wustl.edu 37 4 5624672 5624672 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 5624672 5624672 C G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2093 p.R698P 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 122 0 0.00 74 8 9.76 F2R 0 genome.wustl.edu 37 5 76028910 76028910 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 76028910 76028910 C T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.860 p.T287M 0.692 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 tier1 - - 130 0 0.00 69 12 14.81 FAM135B 0 genome.wustl.edu 37 8 139153550 139153550 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 139153550 139153550 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.3681 p.V1227 0.999 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 121 0 0.00 115 11 8.73 FAM135B 0 genome.wustl.edu 37 8 139164840 139164840 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 139164840 139164840 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.1878 p.G626 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 120 0 0.00 81 7 7.95 FAT3 0 genome.wustl.edu 37 11 92088136 92088136 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 92088136 92088136 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2858 p.T953N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 93 0 0.00 97 19 16.38 FEM1B 0 genome.wustl.edu 37 15 68582280 68582280 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 68582280 68582280 C T SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.584 p.A195V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 tier1 - - 51 0 0.00 19 15 44.12 FERD3L 0 genome.wustl.edu 37 7 19184648 19184648 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 19184648 19184648 C T SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.338 p.R113Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 tier1 - - 56 0 0.00 15 22 59.46 FIG4 0 genome.wustl.edu 37 6 110083297 110083297 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 110083297 110083297 G T SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.1275 p.K425N 1.000 pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 tier1 - - 55 0 0.00 24 4 14.29 FPR1 0 genome.wustl.edu 37 19 52249679 52249680 + Frame_Shift_Del DEL CT CT - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 52249679 52249680 CT - DEL FPR1 ENST00000304748 human ensembl 74_37 -1 known frame_shift_del c.569_568 p.R190fs 0.029:0.479 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 tier1 114 0 0.00 31 43 58.11 FREM2 0 genome.wustl.edu 37 13 39448679 39448679 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 39448679 39448679 A G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8237 p.K2746R 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 125 0 0.00 94 7 6.93 FZD2 0 genome.wustl.edu 37 17 42636437 42636437 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 42636437 42636437 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1381 p.R461C 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 tier1 - - 78 0 0.00 62 8 11.43 FZD6 0 genome.wustl.edu 37 8 104342150 104342150 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 104342150 104342150 C T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known silent c.1809 p.D603 0.726 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 rs201910779 - 49 0 0.00 68 17 20.00 GAS2L1 0 genome.wustl.edu 37 22 29708283 29708283 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 29708283 29708283 C T SNP GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative silent c.1162 p.L388 0.001 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 tier1 - - 109 0 0.00 55 14 20.29 GPR142 0 genome.wustl.edu 37 17 72368021 72368021 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 72368021 72368021 G A SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.671 p.R224H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 tier1 - - 38 0 0.00 11 22 66.67 GPR26 0 genome.wustl.edu 37 10 125425980 125425980 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 125425980 125425980 G A SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known silent c.57 p.S19 0.997 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 tier1 - - 11 0 0.00 2 4 66.67 GREB1 0 genome.wustl.edu 37 2 11750852 11750852 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 11750852 11750852 T C SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.2705 p.V902A 0.990 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 122 0 0.00 53 5 8.62 GRIN2D 0 genome.wustl.edu 37 19 48946588 48946588 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 48946588 48946588 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.3405 p.A1135 0.997 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 tier1 - - 28 0 0.00 5 11 68.75 GUCY2F 0 genome.wustl.edu 37 X 108708371 108708371 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 X 108708371 108708371 T C SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.1032 p.Q344 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 186 0 0.00 45 44 49.44 HECW1 0 genome.wustl.edu 37 7 43581480 43581480 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 43581480 43581480 G C SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4131 p.L1377F 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 73 0 0.00 31 15 32.61 HIC2 0 genome.wustl.edu 37 22 21800189 21800191 + In_Frame_Del DEL GAA GAA - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 21800189 21800191 GAA - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known in_frame_del c.1005_1007 p.K337in_frame_del 0.449:0.904:0.995 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 tier1 35 0 0.00 24 4 14.29 HOMER1 0 genome.wustl.edu 37 5 78746929 78746929 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 78746929 78746929 T C SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known missense c.178 p.T60A 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 tier1 - - 75 0 0.00 41 7 14.58 HPD 0 genome.wustl.edu 37 12 122294267 122294267 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 122294267 122294267 A G SNP HPD ENST00000289004 human ensembl 74_37 -1 known missense c.287 p.I96T 0.999 pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 tier1 - - 93 0 0.00 76 8 9.52 HS6ST3 0 genome.wustl.edu 37 13 97485336 97485336 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 97485336 97485336 C T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.1300 p.R434W 0.992 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 tier1 - - 116 0 0.00 81 35 30.17 HYPK 0 genome.wustl.edu 37 15 44094030 44094030 + RNA SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 44094030 44094030 T C SNP HYPK ENST00000497142 human ensembl 74_37 +1 known rna NULL NULL 0.912 - - - no_errors HYPK HGNC ENSG00000242028 tier1 - - 55 0 0.00 26 9 25.71 IFNA2 0 genome.wustl.edu 37 9 21384858 21384861 + Frame_Shift_Del DEL TTTC TTTC - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 21384858 21384861 TTTC - DEL IFNA2 ENST00000380206 human ensembl 74_37 -1 known frame_shift_del c.471_468 p.K156fs 0.000:0.001:0.005:0.011 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA2 HGNC ENSG00000188379 tier1 369 0 0.00 143 40 21.86 INPP5A 0 genome.wustl.edu 37 10 134563059 134563059 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 134563059 134563059 C T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known silent c.771 p.A257 0.239 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 tier1 - - 86 0 0.00 38 9 19.15 IRS1 0 genome.wustl.edu 37 2 227661352 227661352 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 227661352 227661352 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.2103 p.N701 0.968 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 160 0 0.00 174 38 17.92 ITGAX 0 genome.wustl.edu 37 16 31368360 31368360 + Nonsense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 31368360 31368360 G T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known nonsense c.256 p.E86* 0.983 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 80 0 0.00 31 7 18.42 ITGBL1 0 genome.wustl.edu 37 13 102367976 102367976 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 102367976 102367976 A G SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.1457 p.E486G 1.000 NULL pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 tier1 - - 267 0 0.00 244 17 6.51 ITIH5 0 genome.wustl.edu 37 10 7614341 7614341 + Nonsense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 7614341 7614341 C A SNP ITIH5 ENST00000397145 human ensembl 74_37 -1 known nonsense c.2053 p.E685* 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 29 0 0.00 6 6 50.00 IWS1 0 genome.wustl.edu 37 2 128250857 128250857 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 128250857 128250857 C A SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.1929 p.E643D 1.000 pfam_TFIIS_N,superfamily_TFIIS_N pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 tier1 - - 89 0 0.00 42 18 30.00 KCNMA1 0 genome.wustl.edu 37 10 78943183 78943183 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 78943183 78943183 C A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.804 p.W268C 1.000 pfam_Ion_trans_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 53 0 0.00 44 5 10.20 KIAA1549L 0 genome.wustl.edu 37 11 33566811 33566811 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 33566811 33566811 G A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.2399 p.R800Q 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 57 0 0.00 38 12 24.00 KRT3 0 genome.wustl.edu 37 12 53185088 53185088 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 53185088 53185088 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known silent c.1437 p.A479 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 tier1 rs201814725 - 126 0 0.00 58 31 34.44 KRTAP19-5 0 genome.wustl.edu 37 21 31874233 31874233 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 21 31874233 31874233 C T SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known missense c.176 p.R59H 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 tier1 rs112006874 - 189 0 0.00 125 14 10.07 LAMA4 0 genome.wustl.edu 37 6 112512954 112512954 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 112512954 112512954 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.602 p.D201G 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 50 0 0.00 31 7 18.42 LCT 0 genome.wustl.edu 37 2 136581480 136581480 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 136581480 136581480 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.898 p.L300I 0.187 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 59 0 0.00 40 7 14.89 LIN7A 0 genome.wustl.edu 37 12 81205402 81205402 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 81205402 81205402 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.544 p.V182I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 tier1 rs147965628 - 72 0 0.00 42 7 14.29 LINGO2 0 genome.wustl.edu 37 9 27950415 27950415 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 27950415 27950415 C A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.255 p.E85D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 241 0 0.00 110 42 27.45 LONP2 0 genome.wustl.edu 37 16 48382148 48382148 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 48382148 48382148 C T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.2284 p.R762C 0.995 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 tier1 - - 276 0 0.00 132 30 18.52 LRFN2 0 genome.wustl.edu 37 6 40400076 40400076 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 40400076 40400076 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known silent c.777 p.D259 0.056 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 tier1 - - 68 0 0.00 27 11 28.95 LRP1B 0 genome.wustl.edu 37 2 141986942 141986942 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 141986942 141986942 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.660 p.N220K 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 46 0 0.00 32 5 13.51 LRRC32 0 genome.wustl.edu 37 11 76371463 76371463 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 76371463 76371463 G A SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1174 p.L392F 0.730 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 34 0 0.00 73 5 6.41 LUM 0 genome.wustl.edu 37 12 91502281 91502281 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 91502281 91502281 A C SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.476 p.V159G 0.914 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 tier1 - - 83 0 0.00 47 20 29.85 LY9 0 genome.wustl.edu 37 1 160771608 160771608 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 160771608 160771608 C T SNP LY9 ENST00000368039 human ensembl 74_37 +1 known silent c.483 p.H161 0.997 NULL pfam_Ig_V-set,smart_Ig_sub - no_errors LY9 HGNC ENSG00000122224 tier1 - - 210 0 0.00 160 25 13.51 MAP3K19 0 genome.wustl.edu 37 2 135738887 135738887 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 135738887 135738887 A G SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.3424 p.F1142L 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 MAP3K19 HGNC ENSG00000176601 tier1 - - 170 0 0.00 120 10 7.69 MAP3K8 0 genome.wustl.edu 37 10 30736750 30736750 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 30736750 30736750 G A SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known missense c.376 p.D126N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K8 HGNC ENSG00000107968 tier1 rs201540136 - 169 0 0.00 91 12 11.65 MBNL2 0 genome.wustl.edu 37 13 98009766 98009766 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 98009766 98009766 C T SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.835 p.P279S 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 tier1 - - 114 0 0.00 55 52 48.60 MFSD7 0 genome.wustl.edu 37 4 677102 677102 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 677102 677102 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.1051 p.G351R 0.869 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 tier1 - - 95 0 0.00 36 46 56.10 MTFMT 0 genome.wustl.edu 37 15 65313926 65313926 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 65313926 65313926 C G SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known missense c.571 p.E191Q 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_Fmt pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 tier1 - - 96 0 0.00 48 7 12.73 MTR 0 genome.wustl.edu 37 1 237044081 237044081 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 237044081 237044081 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.2621 p.P874L 0.997 superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 82 0 0.00 30 21 39.62 MUC16 0 genome.wustl.edu 37 19 9056410 9056410 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 9056410 9056410 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31036 p.P10346T 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 103 0 0.00 40 19 32.20 MUC17 0 genome.wustl.edu 37 7 100683865 100683865 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 100683865 100683865 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.9168 p.T3056 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 688 0 0.00 1299 204 13.57 MUC2 0 genome.wustl.edu 37 11 1088003 1088003 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 1088003 1088003 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.3478 p.L1160M 0.132 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 33 0 0.00 10 8 44.44 MYCBP2 0 genome.wustl.edu 37 13 77750765 77750766 + Splice_Site INS - - A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 77750765 77750766 - A INS MYCBP2 ENST00000407578 human ensembl 74_37 -1 known splice_site_ins c.5341-3_5341-2 e36-2 1.000:0.995 - - - no_errors MYCBP2 HGNC ENSG00000005810 tier1 27 0 0.00 30 4 11.76 MYH14 0 genome.wustl.edu 37 19 50747567 50747567 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 50747567 50747567 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1183 p.D395N 0.883 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 66 0 0.00 34 15 30.61 MYH9 0 genome.wustl.edu 37 22 36680483 36680484 + Frame_Shift_Ins INS - - CATC TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 36680483 36680484 - CATC INS MYH9 ENST00000216181 human ensembl 74_37 -1 known frame_shift_ins c.5558_5557 p.D1853fs 1.000:1.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 126 0 0.00 63 25 28.41 MYO15A 0 genome.wustl.edu 37 17 18023078 18023078 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 18023078 18023078 T C SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.964 p.Y322H 0.088 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 119 0 0.00 74 4 5.06 NAA25 0 genome.wustl.edu 37 12 112471037 112471037 + Silent SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 112471037 112471037 C G SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known silent c.2796 p.P932 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 tier1 - - 133 0 0.00 75 12 13.79 NBL1 0 genome.wustl.edu 37 1 19983476 19983476 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 19983476 19983476 G A SNP NBL1 ENST00000289749 human ensembl 74_37 +1 known missense c.505 p.V169I 0.949 NULL pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 tier1 - - 21 0 0.00 10 5 33.33 NCAPG 0 genome.wustl.edu 37 4 17832636 17832636 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 17832636 17832636 T G SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.1781 p.I594R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 tier1 - - 52 0 0.00 29 5 14.71 NCLN 0 genome.wustl.edu 37 19 3192527 3192527 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3192527 3192527 C T SNP NCLN ENST00000246117 human ensembl 74_37 +1 known missense c.244 p.R82C 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 tier1 - - 44 0 0.00 18 6 25.00 NDUFA7 0 genome.wustl.edu 37 19 8376455 8376455 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 8376455 8376455 C T SNP NDUFA7 ENST00000301457 human ensembl 74_37 -1 known silent c.276 p.K92 0.972 pfam_NADH-UbQ_OxRdtase_B14.5a_su pfam_NADH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000267855 tier1 - - 117 0 0.00 59 14 19.18 NEFL 0 genome.wustl.edu 37 8 24813063 24813063 + RNA SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 24813063 24813063 G A SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 tier1 - - 75 0 0.00 49 41 45.56 NF1 0 genome.wustl.edu 37 17 29664575 29664575 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 29664575 29664575 C G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.6617 p.T2206R 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 130 0 0.00 37 38 50.67 NR1I2 0 genome.wustl.edu 37 3 119534625 119534625 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 119534625 119534625 C T SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known silent c.1224 p.F408 0.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 tier1 - - 34 0 0.00 25 10 28.57 NTRK3 0 genome.wustl.edu 37 15 88474450 88474450 + RNA SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 88474450 88474450 T C SNP NTRK3 ENST00000559680 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 31 0 0.00 18 4 18.18 OLFM4 0 genome.wustl.edu 37 13 53624273 53624273 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 53624273 53624273 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.900 p.L300 0.015 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 - - 102 0 0.00 59 7 10.61 OPCML 0 genome.wustl.edu 37 11 132527171 132527171 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 132527171 132527171 G A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.211 p.R71C 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 71 0 0.00 16 12 42.86 OR10G4 0 genome.wustl.edu 37 11 123886670 123886670 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 123886670 123886670 G C SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.389 p.R130T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 tier1 - - 254 0 0.00 159 14 8.09 OR10G9 0 genome.wustl.edu 37 11 123894108 123894108 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 123894108 123894108 G C SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.389 p.R130T 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 tier1 - - 74 0 0.00 51 11 17.74 OR4N2 0 genome.wustl.edu 37 14 20296283 20296283 + Nonsense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 14 20296283 20296283 C T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known nonsense c.676 p.R226* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 144 0 0.00 101 16 13.68 OR4N4 0 genome.wustl.edu 37 15 22382535 22382535 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 22382535 22382535 A C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.63 p.Q21H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 231 0 0.00 91 34 27.20 OR4N4 0 genome.wustl.edu 37 15 22382668 22382668 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 22382668 22382668 T G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.196 p.L66V 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 289 0 0.00 157 18 10.29 OR52D1 0 genome.wustl.edu 37 11 5510028 5510028 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 5510028 5510028 C T SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.92 p.A31V 0.029 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 tier1 - - 112 0 0.00 75 6 7.41 OR5D16 0 genome.wustl.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 55606243 55606243 A G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.16 p.R6G 0.142 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 - - 97 0 0.00 50 25 33.33 OR5T3 0 genome.wustl.edu 37 11 56020077 56020077 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 56020077 56020077 T C SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known silent c.402 p.F134 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 tier1 - - 187 0 0.00 114 21 15.56 OTUD7A 0 genome.wustl.edu 37 15 31776696 31776696 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 31776696 31776696 G T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.1603 p.L535M 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 tier1 - - 55 0 0.00 25 11 30.56 PAPD4 0 genome.wustl.edu 37 5 78938656 78938657 + Frame_Shift_Ins INS - - T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 78938656 78938657 - T INS PAPD4 ENST00000296783 human ensembl 74_37 +1 known frame_shift_ins c.674_675 p.Q228fs 0.846:0.988 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 tier1 21 0 0.00 24 4 14.29 PCDH9 0 genome.wustl.edu 37 13 67800476 67800476 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 67800476 67800476 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2097 p.E699D 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 92 0 0.00 69 4 5.48 PCDHA11 0 genome.wustl.edu 37 5 140248894 140248894 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 140248894 140248894 A G SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.206 p.K69R 0.679 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 230 0 0.00 121 75 38.27 PCDHB6 0 genome.wustl.edu 37 5 140532152 140532152 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 140532152 140532152 T G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2314 p.F772V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 104 0 0.00 65 14 17.72 PLD1 0 genome.wustl.edu 37 3 171410122 171410122 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 171410122 171410122 C T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.1338 p.K446 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 tier1 - - 76 0 0.00 62 9 12.68 POLR2J3 0 genome.wustl.edu 37 7 102212762 102212762 + RNA SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 102212762 102212762 G A SNP POLR2J3 ENST00000504157 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors POLR2J3 HGNC ENSG00000168255 tier1 rs72494477 - 9 0 0.00 21 10 32.26 PPP2R1A 0 genome.wustl.edu 37 19 52716236 52716236 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 52716236 52716236 C T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.680 p.A227V 0.998 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 64 0 0.00 26 4 13.33 PRAMEF7 0 genome.wustl.edu 37 1 12979899 12979899 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 12979899 12979899 A T SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known missense c.1091 p.Q364L 0.127 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 tier1 - - 41 0 0.00 32 10 23.81 PRPF6 0 genome.wustl.edu 37 20 62641597 62641597 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 62641597 62641597 G A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.1231 p.V411I 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 198 0 0.00 164 27 14.06 PRR7 0 genome.wustl.edu 37 5 176882106 176882106 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 176882106 176882106 G T SNP PRR7 ENST00000323249 human ensembl 74_37 +1 known missense c.38 p.C13F 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors PRR7 HGNC ENSG00000131188 tier1 - - 92 0 0.00 48 19 28.36 PYGB 0 genome.wustl.edu 37 20 25259028 25259028 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 25259028 25259028 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 tier1 - - 93 0 0.00 70 5 6.67 RAB33B 0 genome.wustl.edu 37 4 140375544 140375544 + Silent SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 140375544 140375544 G T SNP RAB33B ENST00000305626 human ensembl 74_37 +1 known silent c.195 p.T65 0.484 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC ENSG00000172007 tier1 - - 34 0 0.00 36 6 14.29 RAPGEF4 0 genome.wustl.edu 37 2 173830358 173830358 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 173830358 173830358 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.767 p.T256I 0.253 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 112 0 0.00 100 8 7.41 RASGEF1C 0 genome.wustl.edu 37 5 179541481 179541481 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 179541481 179541481 C T SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1144 p.A382T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 51 0 0.00 31 6 15.79 RBKS 0 genome.wustl.edu 37 2 28004516 28004516 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 28004516 28004516 G T SNP RBKS ENST00000302188 human ensembl 74_37 -1 known missense c.935 p.P312H 1.000 pfam_PfkB_dom,tigrfam_D_ribokin_bac pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac - no_errors RBKS HGNC ENSG00000171174 tier1 - - 115 0 0.00 124 10 7.46 RNF123 0 genome.wustl.edu 37 3 49742579 49742579 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 49742579 49742579 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.2122 p.R708C 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 rs142334123 - 13 0 0.00 10 4 28.57 RRBP1 0 genome.wustl.edu 37 20 17641141 17641141 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 17641141 17641141 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.12 p.Y4 0.996 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 rs200787681 - 95 0 0.00 55 5 8.33 SAFB2 0 genome.wustl.edu 37 19 5587142 5587142 + RNA SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 5587142 5587142 C T SNP SAFB2 ENST00000587802 human ensembl 74_37 -1 known rna NULL NULL 0.118 - - - no_errors SAFB2 HGNC ENSG00000130254 tier1 - - 45 0 0.00 35 6 14.29 SART1 0 genome.wustl.edu 37 11 65744004 65744004 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 65744004 65744004 C T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known silent c.1711 p.L571 1.000 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 100 0 0.00 55 4 6.78 SCML4 0 genome.wustl.edu 37 6 108068008 108068008 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 108068008 108068008 G A SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known silent c.285 p.P95 0.002 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 tier1 - - 119 0 0.00 71 10 12.35 SLC2A6 0 genome.wustl.edu 37 9 136337238 136337238 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 136337238 136337238 C T SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known missense c.1429 p.V477M 0.815 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 tier1 - - 121 0 0.00 77 7 8.33 SLC34A2 0 genome.wustl.edu 37 4 25677886 25677886 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 25677886 25677886 G A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1588 p.V530I 0.083 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 tier1 - - 168 0 0.00 129 19 12.84 SMAD4 0 genome.wustl.edu 37 18 48604690 48604690 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 18 48604690 48604690 T G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1512 p.S504R 0.999 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 101 0 0.00 29 7 19.44 SMG6 0 genome.wustl.edu 37 17 1964760 1964761 + RNA DEL GG GG - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 1964760 1964761 GG - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.728 - - - no_errors SMG6 HGNC ENSG00000070366 tier1 16 0 0.00 8 2 20.00 SMG6 0 genome.wustl.edu 37 17 2203106 2203106 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 2203106 2203106 C G SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.941 p.G314A 0.002 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 236 0 0.00 124 12 8.82 SORCS1 0 genome.wustl.edu 37 10 108431013 108431013 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 108431013 108431013 G C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2171 p.T724S 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 114 0 0.00 42 36 46.15 SST 0 genome.wustl.edu 37 3 187388055 187388055 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 187388055 187388055 C T SNP SST ENST00000287641 human ensembl 74_37 -1 known missense c.25 p.A9T 1.000 pirsf_Somatostatin pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin - no_errors SST HGNC ENSG00000157005 tier1 - - 28 0 0.00 9 4 30.77 ST6GALNAC2 0 genome.wustl.edu 37 17 74569351 74569351 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 74569351 74569351 G A SNP ST6GALNAC2 ENST00000225276 human ensembl 74_37 -1 known silent c.456 p.A152 0.466 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 tier1 - - 23 0 0.00 11 6 35.29 SUPT5H 0 genome.wustl.edu 37 19 39961098 39961098 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 39961098 39961098 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1612 p.E538K 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 247 0 0.00 109 45 29.22 SUPT5H 0 genome.wustl.edu 37 19 39963888 39963888 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 39963888 39963888 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known silent c.2304 p.T768 0.339 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 120 0 0.00 75 10 11.76 TBC1D3P5 0 genome.wustl.edu 37 17 25749636 25749636 + RNA DEL G G - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 25749636 25749636 G - DEL TBC1D3P5 ENST00000581469 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 tier1 14 0 0.00 1 2 66.67 TBX10 0 genome.wustl.edu 37 11 67399790 67399790 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 67399790 67399790 T G SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known missense c.867 p.K289N 0.115 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 tier1 - - 167 0 0.00 120 8 6.25 TECTA 0 genome.wustl.edu 37 11 120996089 120996089 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 120996089 120996089 G C SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.1282 p.A428P 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 456 0 0.00 291 70 19.39 TENM4 0 genome.wustl.edu 37 11 78423707 78423707 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 78423707 78423707 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3874 p.V1292I 0.647 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 - - 83 0 0.00 19 99 83.90 TG 0 genome.wustl.edu 37 8 133881991 133881991 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 133881991 133881991 A C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.194 p.N65T 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 91 0 0.00 82 7 7.87 TLE2 0 genome.wustl.edu 37 19 3025051 3025051 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3025051 3025051 G C SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.261 p.I87M 1.000 pfam_Groucho/TLE_N 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 - - 13 0 0.00 6 5 45.45 TMEM206 0 genome.wustl.edu 37 1 212538673 212538673 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 212538673 212538673 C T SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known missense c.1120 p.A374T 1.000 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 tier1 rs200795875 - 127 0 0.00 73 15 17.05 TMEM230 0 genome.wustl.edu 37 20 5081451 5081451 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 5081451 5081451 C G SNP TMEM230 ENST00000342308 human ensembl 74_37 -1 known missense c.538 p.D180H 1.000 pfam_DUF872_TM pfam_DUF872_TM - no_errors TMEM230 HGNC ENSG00000089063 tier1 - - 155 0 0.00 90 14 13.46 TNFRSF8 0 genome.wustl.edu 37 1 12170175 12170175 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 12170175 12170175 G A SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.590 p.G197D 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 - - 90 0 0.00 75 11 12.09 TOPBP1 0 genome.wustl.edu 37 3 133337188 133337188 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 133337188 133337188 C G SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3461 p.R1154T 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 175 0 0.00 127 16 11.19 TP53 0 genome.wustl.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 7578395 7578395 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.535 p.H179N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 71 0 0.00 22 28 56.00 TPPP 0 genome.wustl.edu 37 5 677912 677912 + Silent SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 677912 677912 G C SNP TPPP ENST00000360578 human ensembl 74_37 -1 known silent c.264 p.G88 0.981 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 tier1 - - 163 0 0.00 78 14 14.89 TTN 0 genome.wustl.edu 37 2 179542889 179542889 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 179542889 179542889 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.30225 p.T10075 0.086 pfam_PPAK_motif,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 - - 217 0 0.00 145 8 5.23 TTN 0 genome.wustl.edu 37 2 179604151 179604151 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 179604151 179604151 C T SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.13296 p.E4432 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 - - 82 0 0.00 59 11 15.71 TUSC3 0 genome.wustl.edu 37 8 15605922 15605922 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 15605922 15605922 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.976 p.F326V 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 113 0 0.00 92 5 5.15 UNC119 0 genome.wustl.edu 37 17 26875115 26875115 + Silent SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 26875115 26875115 C G SNP UNC119 ENST00000335765 human ensembl 74_37 -1 known silent c.339 p.R113 1.000 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119 HGNC ENSG00000109103 tier1 - - 37 0 0.00 14 7 33.33 USP28 0 genome.wustl.edu 37 11 113686013 113686013 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 113686013 113686013 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.1555 p.R519W 0.006 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 tier1 - - 124 0 0.00 102 27 20.93 UTP18 0 genome.wustl.edu 37 17 49350769 49350769 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 49350769 49350769 T C SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known silent c.669 p.N223 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 tier1 - - 112 0 0.00 64 20 23.81 VAPB 0 genome.wustl.edu 37 20 57019334 57019334 + RNA SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 57019334 57019334 C T SNP VAPB ENST00000265619 human ensembl 74_37 +1 known rna NULL NULL 0.954 - - - no_errors VAPB HGNC ENSG00000124164 tier1 - - 130 0 0.00 114 31 21.38 VSIG10 0 genome.wustl.edu 37 12 118511512 118511512 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 118511512 118511512 C G SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.1211 p.S404T 0.445 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 tier1 - - 134 0 0.00 71 5 6.58 WFIKKN2 0 genome.wustl.edu 37 17 48913352 48913354 + In_Frame_Del DEL GCT GCT - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 48913352 48913354 GCT - DEL WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known in_frame_del c.54_56 p.L22in_frame_del 0.993:0.995:0.998 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 tier1 17 0 0.00 13 3 18.75 WWP2 0 genome.wustl.edu 37 16 69968021 69968021 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 69968021 69968021 T C SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.1831 p.F611L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 tier1 - - 115 0 0.00 55 14 20.29 XPNPEP3 0 genome.wustl.edu 37 22 41253175 41253176 + RNA DEL GT GT - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 41253175 41253176 GT - DEL XPNPEP3 ENST00000482652 human ensembl 74_37 +1 known rna NULL NULL 0.027:0.000 - - - no_errors XPNPEP3 HGNC ENSG00000196236 tier1 30 0 0.00 12 8 40.00 ZBTB17 0 genome.wustl.edu 37 1 16269159 16269159 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 16269159 16269159 T C SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.1903 p.T635A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 58 0 0.00 63 4 5.97 ZC3H13 0 genome.wustl.edu 37 13 46554082 46554082 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 46554082 46554082 T G SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1778 p.H593P 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 91 0 0.00 83 18 17.82 ZIC5 0 genome.wustl.edu 37 13 100617777 100617777 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 100617777 100617777 G C SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known missense c.1846 p.Q616E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 tier1 - - 149 0 0.00 110 11 9.09 ZIC5 0 genome.wustl.edu 37 13 100622789 100622789 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 100622789 100622789 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known missense c.1141 p.A381T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 tier1 - - 20 0 0.00 14 4 22.22 ZKSCAN8 0 genome.wustl.edu 37 6 28121105 28121105 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 28121105 28121105 C T SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known silent c.1047 p.P349 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN8 HGNC ENSG00000198315 tier1 - - 370 0 0.00 157 81 34.03 ZMYND8 0 genome.wustl.edu 37 20 45905114 45905114 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 45905114 45905114 G A SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.922 pfam_DUF3544 pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 49 0 0.00 46 4 8.00 ZNF175 0 genome.wustl.edu 37 19 52090760 52090760 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 52090760 52090760 A T SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1176 p.E392D 0.932 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 ZNF175 HGNC ENSG00000105497 tier1 - - 150 0 0.00 75 15 16.67 ZNF276 0 genome.wustl.edu 37 16 89800360 89800360 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 89800360 89800360 G A SNP ZNF276 ENST00000443381 human ensembl 74_37 +1 known missense c.1388 p.R463Q 0.874 NULL pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 78 0 0.00 36 3 7.69 ZNF318 0 genome.wustl.edu 37 6 43307334 43307334 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 43307334 43307334 G T SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.4402 p.Q1468K 0.836 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 68 0 0.00 36 4 10.00 ZNF418 0 genome.wustl.edu 37 19 58439374 58439374 + Nonsense_Mutation SNP T T A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 58439374 58439374 T A SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known nonsense c.175 p.K59* 0.001 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 tier1 - - 79 0 0.00 35 9 20.45 ZNF526 0 genome.wustl.edu 37 19 42730555 42730555 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 42730555 42730555 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.2000 p.T667M 0.991 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 tier1 - - 180 0 0.00 90 31 25.62 ZNF536 0 genome.wustl.edu 37 19 30934810 30934810 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 30934810 30934810 T C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.341 p.M114T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 47 0 0.00 28 4 12.50 CEPT1 0 genome.wustl.edu 37 1 111724892 111724892 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 111724892 111724892 C T SNP CEPT1 ENST00000357172 human ensembl 74_37 +1 known silent c.798 p.F266 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 79 0 0 18 22 55 SDF4 0 genome.wustl.edu 37 1 1153080 1153080 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 1153080 1153080 C T SNP SDF4 ENST00000263741 human ensembl 74_37 -1 known silent c.1017 p.P339 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 110 0 0 90 6 6.25 TNFRSF8 0 genome.wustl.edu 37 1 12170175 12170175 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 12170175 12170175 G A SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.590 p.G197D 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 86 0 0 75 9 10.7143 DDI2 0 genome.wustl.edu 37 1 15959937 15959937 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 15959937 15959937 A C SNP DDI2 ENST00000480945 human ensembl 74_37 +1 known missense c.509 p.K170T 1.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin_dom,superfamily_Peptidase_aspartic_dom,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 253 0 0 254 71 21.8462 COPA 0 genome.wustl.edu 37 1 160261191 160261191 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 160261191 160261191 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.3381 p.F1127 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 101 0 0 78 8 9.30233 LY9 0 genome.wustl.edu 37 1 160771608 160771608 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 160771608 160771608 C T SNP LY9 ENST00000368039 human ensembl 74_37 +1 known silent c.483 p.H161 0.997 NULL pfam_Ig_V-set,smart_Ig_sub - no_errors LY9 HGNC ENSG00000122224 188 0 0 137 21 13.2911 ZBTB17 0 genome.wustl.edu 37 1 16269159 16269159 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 16269159 16269159 T C SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.1903 p.T635A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 51 0 0 58 4 6.45161 CRB1 0 genome.wustl.edu 37 1 197316519 197316519 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 197316519 197316519 A T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.898 p.T300S 0.987 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 134 0 0 85 5 5.55556 CRB1 0 genome.wustl.edu 37 1 197397015 197397015 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 197397015 197397015 G C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2560 p.D854H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 69 0 0 40 12 23.0769 NBL1 0 genome.wustl.edu 37 1 19983476 19983476 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 19983476 19983476 G A SNP NBL1 ENST00000289749 human ensembl 74_37 +1 known missense c.505 p.V169I 0.949 NULL pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 21 0 0 10 5 33.3333 DSTYK 0 genome.wustl.edu 37 1 205156703 205156703 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 205156703 205156703 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.497 p.A166V 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 55 0 0 27 15 35.7143 TMEM206 0 genome.wustl.edu 37 1 212538673 212538673 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 212538673 212538673 C T SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known missense c.1120 p.A374T 1.000 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 105 0 0 65 14 17.7215 MTR 0 genome.wustl.edu 37 1 237044081 237044081 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 237044081 237044081 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.2621 p.P874L 0.997 superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 64 0 0 23 19 45.2381 C1orf173 0 genome.wustl.edu 37 1 75038061 75038061 + Silent SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 75038061 75038061 A T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.3333 p.A1111 0.001 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 114 0 0 70 4 5.40541 SORCS1 0 genome.wustl.edu 37 10 108431013 108431013 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 108431013 108431013 G C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2171 p.T724S 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 96 0 0 38 34 47.2222 GPR26 0 genome.wustl.edu 37 10 125425980 125425980 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 125425980 125425980 G A SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known silent c.57 p.S19 0.997 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 10 0 0 2 4 66.6667 INPP5A 0 genome.wustl.edu 37 10 134563059 134563059 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 134563059 134563059 C T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known silent c.771 p.A257 0.239 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 78 0 0 32 8 20 MAP3K8 0 genome.wustl.edu 37 10 30736750 30736750 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 30736750 30736750 G A SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known missense c.376 p.D126N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K8 HGNC ENSG00000107968 146 0 0 78 11 12.3596 VCL 0 genome.wustl.edu 37 10 75871828 75871828 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 75871828 75871828 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.2907 p.A969 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 87 0 0 98 11 10.0917 KCNMA1 0 genome.wustl.edu 37 10 78943183 78943183 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 10 78943183 78943183 C A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.804 p.W268C 1.000 pfam_Ion_trans_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 48 0 0 41 5 10.8696 MUC2 0 genome.wustl.edu 37 11 1088003 1088003 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 1088003 1088003 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.3478 p.L1160M 0.132 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 29 0 0 10 6 37.5 USP28 0 genome.wustl.edu 37 11 113686013 113686013 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 113686013 113686013 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.1555 p.R519W 0.006 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 111 0 0 88 24 21.4286 TECTA 0 genome.wustl.edu 37 11 120996089 120996089 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 120996089 120996089 G C SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.1282 p.A428P 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 407 0 0 265 65 19.697 OR10G4 0 genome.wustl.edu 37 11 123886670 123886670 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 123886670 123886670 G C SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.389 p.R130T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 224 0 0 137 11 7.43243 OR10G9 0 genome.wustl.edu 37 11 123894108 123894108 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 123894108 123894108 G C SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.389 p.R130T 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 74 0 0 49 11 18.3333 ADAMTS15 0 genome.wustl.edu 37 11 130332450 130332450 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 130332450 130332450 C T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known silent c.1317 p.G439 0.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 67 0 0 46 13 22.0339 OPCML 0 genome.wustl.edu 37 11 132527171 132527171 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 132527171 132527171 G A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.211 p.R71C 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 60 0 0 14 10 41.6667 KIAA1549L 0 genome.wustl.edu 37 11 33566811 33566811 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 33566811 33566811 G A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.2399 p.R800Q 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 56 0 0 38 12 24 AMBRA1 0 genome.wustl.edu 37 11 46563752 46563752 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 46563752 46563752 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.1815 p.S605 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 39 0 0 11 11 50 CKAP5 0 genome.wustl.edu 37 11 46819477 46819477 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 46819477 46819477 C T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.1216 p.D406N 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 64 0 0 41 10 19.6078 OR52D1 0 genome.wustl.edu 37 11 5510028 5510028 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 5510028 5510028 C T SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.92 p.A31V 0.029 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 102 0 0 66 6 8.33333 OR5D16 0 genome.wustl.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 55606243 55606243 A G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.16 p.R6G 0.142 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 82 0 0 45 24 34.7826 OR5T3 0 genome.wustl.edu 37 11 56020077 56020077 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 56020077 56020077 T C SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known silent c.402 p.F134 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 175 0 0 101 19 15.8333 SART1 0 genome.wustl.edu 37 11 65744004 65744004 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 65744004 65744004 C T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known silent c.1711 p.L571 1.000 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 83 0 0 47 4 7.84314 TBX10 0 genome.wustl.edu 37 11 67399790 67399790 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 67399790 67399790 T G SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known missense c.867 p.K289N 0.115 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 148 0 0 105 7 6.25 LRRC32 0 genome.wustl.edu 37 11 76371463 76371463 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 76371463 76371463 G A SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1174 p.L392F 0.730 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 31 0 0 65 4 5.7971 TENM4 0 genome.wustl.edu 37 11 78423707 78423707 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 78423707 78423707 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3874 p.V1292I 0.647 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 79 0 0 17 92 84.4037 FAT3 0 genome.wustl.edu 37 11 92088136 92088136 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 11 92088136 92088136 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2858 p.T953N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 85 0 0 92 15 14.0187 NAA25 0 genome.wustl.edu 37 12 112471037 112471037 + Silent SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 112471037 112471037 C G SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known silent c.2796 p.P932 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 114 0 0 63 10 13.6986 VSIG10 0 genome.wustl.edu 37 12 118511512 118511512 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 118511512 118511512 C G SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.1211 p.S404T 0.445 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 104 0 0 59 4 6.34921 HPD 0 genome.wustl.edu 37 12 122294267 122294267 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 122294267 122294267 A G SNP HPD ENST00000289004 human ensembl 74_37 -1 known missense c.287 p.I96T 0.999 pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 76 0 0 64 8 11.1111 TEAD4 0 genome.wustl.edu 37 12 3126664 3126664 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 3126664 3126664 G A SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.455 p.R152Q 0.998 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 55 0 0 26 10 27.7778 KRT3 0 genome.wustl.edu 37 12 53185088 53185088 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 53185088 53185088 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known silent c.1437 p.A479 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 118 0 0 56 29 34.1176 LIN7A 0 genome.wustl.edu 37 12 81205402 81205402 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 81205402 81205402 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.544 p.V182I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 64 0 0 38 7 15.5556 LUM 0 genome.wustl.edu 37 12 91502281 91502281 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 91502281 91502281 A C SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.476 p.V159G 0.914 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 80 0 0 45 17 27.4194 ZIC5 0 genome.wustl.edu 37 13 100617777 100617777 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 100617777 100617777 G C SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known missense c.1846 p.Q616E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 143 0 0 107 11 9.32203 ITGBL1 0 genome.wustl.edu 37 13 102367976 102367976 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 102367976 102367976 A G SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.1457 p.E486G 1.000 NULL pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 225 0 0 206 14 6.36364 FREM2 0 genome.wustl.edu 37 13 39448679 39448679 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 39448679 39448679 A G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8237 p.K2746R 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 107 0 0 80 5 5.88235 ZC3H13 0 genome.wustl.edu 37 13 46554082 46554082 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 46554082 46554082 T G SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1778 p.H593P 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 84 0 0 77 18 18.9474 OLFM4 0 genome.wustl.edu 37 13 53624273 53624273 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 53624273 53624273 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.900 p.L300 0.015 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 92 0 0 57 6 9.52381 MBNL2 0 genome.wustl.edu 37 13 98009766 98009766 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 13 98009766 98009766 C T SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.835 p.P279S 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 102 0 0 48 48 50 OR4N2 0 genome.wustl.edu 37 14 20296283 20296283 + Nonsense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 14 20296283 20296283 C T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known nonsense c.676 p.R226* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 139 0 0 92 15 14.0187 SPTLC2 0 genome.wustl.edu 37 14 78023404 78023404 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 14 78023404 78023404 G C SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known missense c.936 p.I312M 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 65 0 0 51 4 7.27273 HERC2P3 0 genome.wustl.edu 37 15 20643991 20643991 + RNA SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 20643991 20643991 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 30 0 0 10 3 23.0769 OR4N4 0 genome.wustl.edu 37 15 22382535 22382535 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 22382535 22382535 A C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.63 p.Q21H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 196 0 0 84 28 25 OR4N4 0 genome.wustl.edu 37 15 22382668 22382668 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 22382668 22382668 T G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.196 p.L66V 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 240 0 0 133 12 8.27586 OTUD7A 0 genome.wustl.edu 37 15 31776696 31776696 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 31776696 31776696 G T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.1603 p.L535M 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 47 0 0 22 10 31.25 NUTM1 0 genome.wustl.edu 37 15 34646682 34646682 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 34646682 34646682 G C SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.1027 p.A343P 0.948 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 149 0 0 90 5 5.26316 DUOX2 0 genome.wustl.edu 37 15 45400422 45400422 + Splice_Site SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 45400422 45400422 T C SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known splice_site c.1399-2 e12-2 1.000 - - - no_errors DUOX2 HGNC ENSG00000140279 84 0 0 47 4 7.84314 MTFMT 0 genome.wustl.edu 37 15 65313926 65313926 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 65313926 65313926 C G SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known missense c.571 p.E191Q 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_Fmt pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 83 0 0 42 7 14.2857 FEM1B 0 genome.wustl.edu 37 15 68582280 68582280 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 68582280 68582280 C T SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.584 p.A195V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 51 0 0 19 14 42.4242 CHD2 0 genome.wustl.edu 37 15 93557943 93557943 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 15 93557943 93557943 C G SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.4710 p.D1570E 0.993 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 84 0 0 57 12 17.3913 ASPHD1 0 genome.wustl.edu 37 16 29916255 29916255 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 29916255 29916255 C T SNP ASPHD1 ENST00000308748 human ensembl 74_37 +1 known silent c.1032 p.D344 0.982 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 76 0 0 42 4 8.69565 ITGAX 0 genome.wustl.edu 37 16 31368360 31368360 + Nonsense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 31368360 31368360 G T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known nonsense c.256 p.E86* 0.983 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 70 0 0 28 7 20 LONP2 0 genome.wustl.edu 37 16 48382148 48382148 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 48382148 48382148 C T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.2284 p.R762C 0.995 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 230 0 0 113 29 20.4225 VPS4A 0 genome.wustl.edu 37 16 69350022 69350022 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 69350022 69350022 T C SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.133 p.Y45H 1.000 pfam_MIT,smart_MIT pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 77 0 0 45 4 8.16327 WWP2 0 genome.wustl.edu 37 16 69968021 69968021 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 69968021 69968021 T C SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.1831 p.F611L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 101 0 0 48 12 20 METTL22 0 genome.wustl.edu 37 16 8738515 8738515 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 8738515 8738515 G A SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.1112 p.R371H 0.999 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 155 0 0 96 16 14.2857 ZNF276 0 genome.wustl.edu 37 16 89800360 89800360 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 16 89800360 89800360 G A SNP ZNF276 ENST00000443381 human ensembl 74_37 +1 known missense c.1388 p.R463Q 0.874 NULL pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 71 0 0 32 3 8.57143 SMG6 0 genome.wustl.edu 37 17 2203106 2203106 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 2203106 2203106 C G SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.941 p.G314A 0.002 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 203 0 0 108 11 9.2437 UNC119 0 genome.wustl.edu 37 17 26875115 26875115 + Silent SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 26875115 26875115 C G SNP UNC119 ENST00000335765 human ensembl 74_37 -1 known silent c.339 p.R113 1.000 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119 HGNC ENSG00000109103 36 0 0 14 6 30 NF1 0 genome.wustl.edu 37 17 29664575 29664575 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 29664575 29664575 C G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.6617 p.T2206R 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 113 0 0 29 33 53.2258 FZD2 0 genome.wustl.edu 37 17 42636437 42636437 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 42636437 42636437 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1381 p.R461C 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 75 0 0 59 7 10.6061 ABI3 0 genome.wustl.edu 37 17 47295191 47295191 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 47295191 47295191 G A SNP ABI3 ENST00000225941 human ensembl 74_37 +1 known missense c.376 p.A126T 0.994 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 119 0 0 74 5 6.32911 UTP18 0 genome.wustl.edu 37 17 49350769 49350769 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 49350769 49350769 T C SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known silent c.669 p.N223 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 90 0 0 54 14 20.5882 GPR142 0 genome.wustl.edu 37 17 72368021 72368021 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 72368021 72368021 G A SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.671 p.R224H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 34 0 0 9 18 66.6667 ST6GALNAC2 0 genome.wustl.edu 37 17 74569351 74569351 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 74569351 74569351 G A SNP ST6GALNAC2 ENST00000225276 human ensembl 74_37 -1 known silent c.456 p.A152 0.466 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 20 0 0 10 6 37.5 TP53 0 genome.wustl.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 17 7578395 7578395 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.535 p.H179N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 61 0 0 22 27 55.102 SMAD4 0 genome.wustl.edu 37 18 48604690 48604690 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 18 48604690 48604690 T G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1512 p.S504R 0.999 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 87 0 0 26 5 16.129 TLE2 0 genome.wustl.edu 37 19 3025051 3025051 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3025051 3025051 G C SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.261 p.I87M 1.000 pfam_Groucho/TLE_N 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 9 0 0 5 4 44.4444 NCLN 0 genome.wustl.edu 37 19 3192527 3192527 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3192527 3192527 C T SNP NCLN ENST00000246117 human ensembl 74_37 +1 known missense c.244 p.R82C 1.000 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 37 0 0 18 6 25 ATCAY 0 genome.wustl.edu 37 19 3905589 3905589 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 3905589 3905589 C T SNP ATCAY ENST00000301260 human ensembl 74_37 +1 known silent c.294 p.I98 0.705 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 125 0 0 37 60 61.8557 SUPT5H 0 genome.wustl.edu 37 19 39961098 39961098 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 39961098 39961098 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1612 p.E538K 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 219 0 0 99 40 28.777 SUPT5H 0 genome.wustl.edu 37 19 39963888 39963888 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 39963888 39963888 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known silent c.2304 p.T768 0.339 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 113 0 0 67 8 10.6667 ZNF526 0 genome.wustl.edu 37 19 42730555 42730555 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 42730555 42730555 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.2000 p.T667M 0.991 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 163 0 0 80 27 25.2336 CCDC8 0 genome.wustl.edu 37 19 46915631 46915631 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 46915631 46915631 C T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.437 p.S146N 1.000 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 98 0 0 47 9 16.0714 ARHGAP35 0 genome.wustl.edu 37 19 47424159 47424159 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 47424159 47424159 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.2227 p.G743R 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 34 0 0 12 13 52 GRIN2D 0 genome.wustl.edu 37 19 48946588 48946588 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 48946588 48946588 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.3405 p.A1135 0.997 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 26 0 0 5 7 58.3333 BCAT2 0 genome.wustl.edu 37 19 49303279 49303279 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 49303279 49303279 C T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.490 p.G164S 0.553 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 30 0 0 18 17 48.5714 MYH14 0 genome.wustl.edu 37 19 50747567 50747567 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 50747567 50747567 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1183 p.D395N 0.883 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 59 0 0 28 13 31.7073 KLK14 0 genome.wustl.edu 37 19 51581384 51581384 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 51581384 51581384 T C SNP KLK14 ENST00000156499 human ensembl 74_37 -1 known silent c.684 p.G228 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK14 HGNC ENSG00000129437 45 0 0 32 4 11.1111 ZNF175 0 genome.wustl.edu 37 19 52090760 52090760 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 52090760 52090760 A T SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1176 p.E392D 0.932 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 ZNF175 HGNC ENSG00000105497 141 0 0 65 13 16.6667 ZNF418 0 genome.wustl.edu 37 19 58439374 58439374 + Nonsense_Mutation SNP T T A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 58439374 58439374 T A SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known nonsense c.175 p.K59* 0.001 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 73 0 0 32 8 20 NDUFA7 0 genome.wustl.edu 37 19 8376455 8376455 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 8376455 8376455 C T SNP NDUFA7 ENST00000301457 human ensembl 74_37 -1 known silent c.276 p.K92 0.972 pfam_NADH-UbQ_OxRdtase_B14.5a_su pfam_NADH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000267855 109 0 0 56 13 18.8406 MUC16 0 genome.wustl.edu 37 19 9056410 9056410 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 9056410 9056410 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31036 p.P10346T 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 99 0 0 38 18 32.1429 GREB1 0 genome.wustl.edu 37 2 11750852 11750852 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 11750852 11750852 T C SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.2705 p.V902A 0.990 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 103 0 0 46 5 9.80392 IWS1 0 genome.wustl.edu 37 2 128250857 128250857 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 128250857 128250857 C A SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.1929 p.E643D 1.000 pfam_TFIIS_N,superfamily_TFIIS_N pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 77 0 0 38 13 25.4902 MAP3K19 0 genome.wustl.edu 37 2 135738887 135738887 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 135738887 135738887 A G SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.3424 p.F1142L 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 MAP3K19 HGNC ENSG00000176601 158 0 0 111 10 8.26446 LCT 0 genome.wustl.edu 37 2 136581480 136581480 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 136581480 136581480 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.898 p.L300I 0.187 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 50 0 0 35 6 14.6341 LRP1B 0 genome.wustl.edu 37 2 141986942 141986942 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 141986942 141986942 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.660 p.N220K 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 45 0 0 30 5 14.2857 RAPGEF4 0 genome.wustl.edu 37 2 173830358 173830358 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 173830358 173830358 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.767 p.T256I 0.253 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 108 0 0 95 6 5.94059 TTN 0 genome.wustl.edu 37 2 179569437 179569437 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 179569437 179569437 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.26030 p.I8677T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 26 0 0 14 3 17.6471 TTN 0 genome.wustl.edu 37 2 179604151 179604151 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 179604151 179604151 C T SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.13296 p.E4432 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 80 0 0 55 10 15.3846 DNAH7 0 genome.wustl.edu 37 2 196825170 196825170 + Missense_Mutation SNP T T A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 196825170 196825170 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2705 p.E902V 1.000 pfam_Dynein_heavy_dom-2 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 144 0 0 95 42 30.6569 APOB 0 genome.wustl.edu 37 2 21231486 21231486 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 21231486 21231486 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.8254 p.V2752L 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 235 0 0 95 28 22.7642 IRS1 0 genome.wustl.edu 37 2 227661352 227661352 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 227661352 227661352 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.2103 p.N701 0.968 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 154 0 0 159 34 17.6166 ANKMY1 0 genome.wustl.edu 37 2 241439956 241439956 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 241439956 241439956 G A SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known silent c.2286 p.A762 0.545 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 94 0 0 34 8 19.0476 RBKS 0 genome.wustl.edu 37 2 28004516 28004516 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 28004516 28004516 G T SNP RBKS ENST00000302188 human ensembl 74_37 -1 known missense c.935 p.P312H 1.000 pfam_PfkB_dom,tigrfam_D_ribokin_bac pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac - no_errors RBKS HGNC ENSG00000171174 102 0 0 106 10 8.62069 DYSF 0 genome.wustl.edu 37 2 71796969 71796969 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 71796969 71796969 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.2923 p.A975T 0.999 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 33 0 0 9 3 25 ALMS1 0 genome.wustl.edu 37 2 73829377 73829377 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 2 73829377 73829377 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.12177 p.K4059 0.999 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 53 0 0 61 25 29.0698 RRBP1 0 genome.wustl.edu 37 20 17641141 17641141 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 17641141 17641141 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.12 p.Y4 0.996 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 78 0 0 44 4 8.33333 PYGB 0 genome.wustl.edu 37 20 25259028 25259028 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 25259028 25259028 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 88 0 0 65 5 7.14286 FRG1B 0 genome.wustl.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 29625885 29625885 A T SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.129 p.K43N 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 109 1 0.909091 105 6 5.40541 ZMYND8 0 genome.wustl.edu 37 20 45905114 45905114 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 45905114 45905114 G A SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.1445 p.T482M 0.922 pfam_DUF3544 pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 48 0 0 46 4 8 TMEM230 0 genome.wustl.edu 37 20 5081451 5081451 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 5081451 5081451 C G SNP TMEM230 ENST00000342308 human ensembl 74_37 -1 known missense c.538 p.D180H 1.000 pfam_DUF872_TM pfam_DUF872_TM - no_errors TMEM230 HGNC ENSG00000089063 127 0 0 80 11 12.0879 CDH26 0 genome.wustl.edu 37 20 58587739 58587739 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 58587739 58587739 C T SNP CDH26 ENST00000348616 human ensembl 74_37 +1 known missense c.2453 p.A818V 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 72 0 0 74 20 21.2766 PRPF6 0 genome.wustl.edu 37 20 62641597 62641597 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 20 62641597 62641597 G A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.1231 p.V411I 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 178 0 0 149 25 14.3678 KRTAP19-5 0 genome.wustl.edu 37 21 31874233 31874233 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 21 31874233 31874233 C T SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known missense c.176 p.R59H 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 175 0 0 115 12 9.44882 COL6A2 0 genome.wustl.edu 37 21 47549115 47549115 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 21 47549115 47549115 C G SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known missense c.2467 p.P823A 0.005 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 145 0 0 89 10 10.101 GAS2L1 0 genome.wustl.edu 37 22 29708283 29708283 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 29708283 29708283 C T SNP GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative silent c.1162 p.L388 0.001 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 100 0 0 52 14 21.2121 HMOX1 0 genome.wustl.edu 37 22 35785935 35785935 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 35785935 35785935 C T SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known missense c.715 p.R239W 0.000 superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 17 0 0 11 5 31.25 LDOC1L 0 genome.wustl.edu 37 22 44892765 44892765 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 44892765 44892765 G A SNP LDOC1L ENST00000341255 human ensembl 74_37 -1 known silent c.672 p.N224 0.094 NULL NULL - no_errors LDOC1L HGNC ENSG00000188636 104 1 0.952381 63 19 23.1707 NR1I2 0 genome.wustl.edu 37 3 119534625 119534625 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 119534625 119534625 C T SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known silent c.1224 p.F408 0.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 28 0 0 20 6 23.0769 TOPBP1 0 genome.wustl.edu 37 3 133337188 133337188 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 133337188 133337188 C G SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3461 p.R1154T 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 155 0 0 118 14 10.6061 PLD1 0 genome.wustl.edu 37 3 171410122 171410122 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 171410122 171410122 C T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.1338 p.K446 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 74 0 0 56 9 13.8462 SST 0 genome.wustl.edu 37 3 187388055 187388055 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 187388055 187388055 C T SNP SST ENST00000287641 human ensembl 74_37 -1 known missense c.25 p.A9T 1.000 pirsf_Somatostatin pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin - no_errors SST HGNC ENSG00000157005 25 0 0 8 4 33.3333 EOMES 0 genome.wustl.edu 37 3 27760377 27760377 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 27760377 27760377 A T SNP EOMES ENST00000449599 human ensembl 74_37 -1 known missense c.1166 p.V389D 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 54 0 0 36 3 7.69231 ARPP21 0 genome.wustl.edu 37 3 35758821 35758821 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 35758821 35758821 G C SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.865 p.E289Q 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 97 0 0 60 13 17.8082 SCN10A 0 genome.wustl.edu 37 3 38740047 38740047 + Missense_Mutation SNP A A T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 38740047 38740047 A T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4664 p.I1555N 0.412 pfam_Ion_trans_dom,prints_PKD_2 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 97 0 0 83 5 5.68182 RBM15B 0 genome.wustl.edu 37 3 51430426 51430426 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 3 51430426 51430426 G A SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known silent c.1596 p.T532 0.926 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 100 0 0 57 4 6.55738 RAB33B 0 genome.wustl.edu 37 4 140375544 140375544 + Silent SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 140375544 140375544 G T SNP RAB33B ENST00000305626 human ensembl 74_37 +1 known silent c.195 p.T65 0.484 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC ENSG00000172007 33 0 0 34 6 15 NCAPG 0 genome.wustl.edu 37 4 17832636 17832636 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 17832636 17832636 T G SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.1781 p.I594R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 51 0 0 27 4 12.9032 SLC34A2 0 genome.wustl.edu 37 4 25677886 25677886 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 25677886 25677886 G A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1588 p.V530I 0.083 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 138 0 0 111 18 13.9535 EVC2 0 genome.wustl.edu 37 4 5624672 5624672 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 5624672 5624672 C G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2093 p.R698P 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 106 0 0 67 7 9.45946 MFSD7 0 genome.wustl.edu 37 4 677102 677102 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 677102 677102 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.1051 p.G351R 0.869 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 80 0 0 34 43 55.8442 ACOX3 0 genome.wustl.edu 37 4 8394125 8394125 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 4 8394125 8394125 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.1235 p.S412L 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 284 0 0 221 20 8.29876 PCDHA11 0 genome.wustl.edu 37 5 140248894 140248894 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 140248894 140248894 A G SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.206 p.K69R 0.679 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 214 0 0 113 66 36.8715 PCDHB4 0 genome.wustl.edu 37 5 140503014 140503014 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 140503014 140503014 C A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1434 p.D478E 0.144 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 140 0 0 128 9 6.56934 PCDHB6 0 genome.wustl.edu 37 5 140532152 140532152 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 140532152 140532152 T G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2314 p.F772V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 94 0 0 58 12 17.1429 DOCK2 0 genome.wustl.edu 37 5 169435576 169435576 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 169435576 169435576 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3148 p.A1050T 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF 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 77 0 0 19 21 52.5 PRR7 0 genome.wustl.edu 37 5 176882106 176882106 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 176882106 176882106 G T SNP PRR7 ENST00000323249 human ensembl 74_37 +1 known missense c.38 p.C13F 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors PRR7 HGNC ENSG00000131188 84 0 0 43 19 30.6452 RASGEF1C 0 genome.wustl.edu 37 5 179541481 179541481 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 179541481 179541481 C T SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1144 p.A382T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 44 0 0 27 6 18.1818 ERBB2IP 0 genome.wustl.edu 37 5 65350294 65350294 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 65350294 65350294 C G SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.3148 p.P1050A 0.873 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 102 0 0 55 25 31.25 TPPP 0 genome.wustl.edu 37 5 677912 677912 + Silent SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 677912 677912 G C SNP TPPP ENST00000360578 human ensembl 74_37 -1 known silent c.264 p.G88 0.981 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 129 0 0 71 11 13.4146 BDP1 0 genome.wustl.edu 37 5 70835476 70835476 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 70835476 70835476 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.6022 p.V2008I 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 62 0 0 27 9 25 F2R 0 genome.wustl.edu 37 5 76028910 76028910 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 76028910 76028910 C T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.860 p.T287M 0.692 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 111 0 0 61 11 15.2778 HOMER1 0 genome.wustl.edu 37 5 78746929 78746929 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 5 78746929 78746929 T C SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known missense c.178 p.T60A 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 61 0 0 38 6 13.6364 SCML4 0 genome.wustl.edu 37 6 108068008 108068008 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 108068008 108068008 G A SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known silent c.285 p.P95 0.002 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 114 0 0 67 10 12.987 LAMA4 0 genome.wustl.edu 37 6 112512954 112512954 + Missense_Mutation SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 112512954 112512954 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.602 p.D201G 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 45 0 0 29 7 19.4444 TMEM244 0 genome.wustl.edu 37 6 130164745 130164745 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 130164745 130164745 C T SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known silent c.123 p.V41 0.004 pfam_Integral_membrane_SYS1-rel pfam_Integral_membrane_SYS1-rel - no_errors TMEM244 HGNC ENSG00000203756 135 0 0 76 4 5 GRM1 0 genome.wustl.edu 37 6 146673402 146673402 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 146673402 146673402 A C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1203 p.E401D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 105 0 0 61 4 6.15385 OPRM1 0 genome.wustl.edu 37 6 154360878 154360878 + Missense_Mutation SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 154360878 154360878 A G SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.478 p.M160V 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 48 0 0 29 3 9.375 PDE10A 0 genome.wustl.edu 37 6 165895801 165895801 + Splice_Site SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 165895801 165895801 A G SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known splice_site c.225+2 e3+2 1.000 - - - no_errors PDE10A HGNC ENSG00000112541 159 1 0.625 90 5 5.26316 BTN2A1 0 genome.wustl.edu 37 6 26468672 26468672 + Missense_Mutation SNP G G T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 26468672 26468672 G T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.1479 p.E493D 0.996 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 130 0 0 92 6 6.12245 ZKSCAN8 0 genome.wustl.edu 37 6 28121105 28121105 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 28121105 28121105 C T SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known silent c.1047 p.P349 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN8 HGNC ENSG00000198315 347 0 0 149 76 33.7778 DNAH8 0 genome.wustl.edu 37 6 38881725 38881725 + Missense_Mutation SNP C C G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 38881725 38881725 C G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.9309 p.D3103E 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 61 0 0 31 4 11.4286 KCNK5 0 genome.wustl.edu 37 6 39162019 39162019 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 39162019 39162019 C A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.560 p.G187V 1.000 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 103 1 0.961538 36 8 18.1818 LRFN2 0 genome.wustl.edu 37 6 40400076 40400076 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 40400076 40400076 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known silent c.777 p.D259 0.056 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 63 0 0 25 11 30.5556 HSP90AB1 0 genome.wustl.edu 37 6 44219501 44219501 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 6 44219501 44219501 C T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1342 p.R448C 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 169 0 0 86 5 5.49451 MUC17 0 genome.wustl.edu 37 7 100683865 100683865 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 100683865 100683865 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.9168 p.T3056 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 626 0 0 1183 187 13.6496 DGKI 0 genome.wustl.edu 37 7 137531284 137531284 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 137531284 137531284 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.325 p.A109T 0.943 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 13 0 0 12 3 20 FERD3L 0 genome.wustl.edu 37 7 19184648 19184648 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 19184648 19184648 C T SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.338 p.R113Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 47 0 0 11 20 64.5161 HECW1 0 genome.wustl.edu 37 7 43581480 43581480 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 43581480 43581480 G C SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4131 p.L1377F 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 71 0 0 30 14 31.8182 ZNF716 0 genome.wustl.edu 37 7 57528738 57528738 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 57528738 57528738 G A SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.571 p.G191S 0.989 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 ZNF716 HGNC ENSG00000182111 12 0 0 6 3 33.3333 BAZ1B 0 genome.wustl.edu 37 7 72892862 72892862 + Missense_Mutation SNP G G C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 72892862 72892862 G C SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.929 p.T310S 0.950 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 87 0 0 32 17 34.6939 FZD6 0 genome.wustl.edu 37 8 104342150 104342150 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 104342150 104342150 C T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known silent c.1809 p.D603 0.726 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 47 0 0 65 16 19.7531 C8orf74 0 genome.wustl.edu 37 8 10555407 10555407 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 10555407 10555407 C T SNP C8orf74 ENST00000304519 human ensembl 74_37 +1 known silent c.540 p.A180 0.000 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 46 0 0 42 10 19.2308 ANGPT1 0 genome.wustl.edu 37 8 108334260 108334260 + Silent SNP A A G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 108334260 108334260 A G SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.672 p.T224 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 67 0 0 86 7 7.52688 CSMD3 0 genome.wustl.edu 37 8 113668544 113668544 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 113668544 113668544 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2843 p.V948G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 51 0 0 49 13 20.9677 COL14A1 0 genome.wustl.edu 37 8 121292216 121292216 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 121292216 121292216 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3524 p.S1175L 0.986 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 68 0 0 72 7 8.86076 ADCY8 0 genome.wustl.edu 37 8 131916177 131916177 + Silent SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 131916177 131916177 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1752 p.T584 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 174 0 0 164 18 9.89011 TG 0 genome.wustl.edu 37 8 133881991 133881991 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 133881991 133881991 A C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.194 p.N65T 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 74 0 0 69 7 9.21053 FAM135B 0 genome.wustl.edu 37 8 139153550 139153550 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 139153550 139153550 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.3681 p.V1227 0.999 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 106 0 0 105 10 8.69565 FAM135B 0 genome.wustl.edu 37 8 139164840 139164840 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 139164840 139164840 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.1878 p.G626 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 121 0 0 79 7 8.13953 TUSC3 0 genome.wustl.edu 37 8 15605922 15605922 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 15605922 15605922 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.976 p.F326V 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 97 0 0 80 5 5.88235 MSR1 0 genome.wustl.edu 37 8 16026119 16026119 + Missense_Mutation SNP T T G TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 16026119 16026119 T G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.478 p.S160R 0.062 pfam_Macro_scav_rcpt,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 104 0 0 65 4 5.7971 EGR3 0 genome.wustl.edu 37 8 22548006 22548006 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 22548006 22548006 C T SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known missense c.1144 p.V382M 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 41 0 0 37 4 9.7561 NEFL 0 genome.wustl.edu 37 8 24813063 24813063 + RNA SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 24813063 24813063 G A SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 69 0 0 41 36 46.7532 EBF2 0 genome.wustl.edu 37 8 25899686 25899686 + Silent SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 25899686 25899686 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known silent c.213 p.L71 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 101 0 0 97 6 5.82524 PXDNL 0 genome.wustl.edu 37 8 52321769 52321769 + Silent SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 52321769 52321769 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2415 p.H805 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 15 0 0 5 4 44.4444 CYLC2 0 genome.wustl.edu 37 9 105767641 105767641 + Missense_Mutation SNP A A C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 105767641 105767641 A C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.728 p.K243T 0.039 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 63 0 0 40 7 14.8936 NAIF1 0 genome.wustl.edu 37 9 130829338 130829338 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 130829338 130829338 G A SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known missense c.43 p.R15W 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 253 1 0.393701 176 17 8.80829 SLC2A6 0 genome.wustl.edu 37 9 136337238 136337238 + Missense_Mutation SNP C C T TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 136337238 136337238 C T SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known missense c.1429 p.V477M 0.815 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 105 0 0 68 7 9.33333 LINGO2 0 genome.wustl.edu 37 9 27950415 27950415 + Missense_Mutation SNP C C A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 27950415 27950415 C A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.255 p.E85D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 211 0 0 92 35 27.5591 BICD2 0 genome.wustl.edu 37 9 95491355 95491355 + Missense_Mutation SNP G G A TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 9 95491355 95491355 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.404 p.T135M 0.998 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 82 0 0 36 5 12.1951 GUCY2F 0 genome.wustl.edu 37 X 108708371 108708371 + Silent SNP T T C TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 X 108708371 108708371 T C SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.1032 p.Q344 0.999 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 168 0 0 41 40 49.3827 ARHGAP30 0 genome.wustl.edu 37 1 161019053 161019053 + Frame_Shift_Del DEL G G - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 1 161019053 161019053 G - DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_del c.1758 p.S587fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 191 0 0 112 14 11.1111 ATN1 0 genome.wustl.edu 37 12 7045535 7045535 + Frame_Shift_Del DEL C C - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 12 7045535 7045535 C - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_del c.1105 p.M371fs 0.684 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 230 0 0 157 14 8.18713 ILVBL 0 genome.wustl.edu 37 19 15230059 15230059 + Frame_Shift_Del DEL C C - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 15230059 15230059 C - DEL ILVBL ENST00000263383 human ensembl 74_37 -1 known frame_shift_del c.969 p.L324fs 0.145 pfam_Thiamin_PyroP_enz_cen_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 117 0 0 70 7 9.09091 FPR1 0 genome.wustl.edu 37 19 52249679 52249680 + Frame_Shift_Del DEL CT CT - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 19 52249679 52249680 CT - DEL FPR1 ENST00000304748 human ensembl 74_37 -1 known frame_shift_del c.569_568 p.R190fs 0.029:0.479 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 115 0 0 34 41 54.6667 MYH9 0 genome.wustl.edu 37 22 36680483 36680484 + Frame_Shift_Ins INS - - CATC TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 22 36680483 36680484 - CATC INS MYH9 ENST00000216181 human ensembl 74_37 -1 known frame_shift_ins c.5558_5557 p.D1853fs 1.000:1.000 pfam_Myosin_tail,superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 129 0 0 74 18 19.5652 ABCB1 0 genome.wustl.edu 37 7 87225100 87225103 + Frame_Shift_Del DEL AGTT AGTT - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 AGTT AGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 7 87225100 87225103 AGTT - DEL ABCB1 ENST00000265724 human ensembl 74_37 -1 known frame_shift_del c.99_96 p.T33fs 0.998:1.000:1.000:1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 51 0 0 32 5 13.5135 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-D7-A6EV-01A-11D-A31L-08 TCGA-D7-A6EV-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 10524458-7bf2-4c88-a202-f3c71473730b 906b8318-8777-4d0f-b7a7-bc8f2b1edf24 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 82 0 0 115 7 5.7377