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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABLIM1 0 genome.wustl.edu 37 10 116233707 116233707 + Missense_Mutation SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 10 116233707 116233707 C T SNP ABLIM1 ENST00000392955 human ensembl 69_37n -1 known missense c.776 p.G259E 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABLIM1 HGNC ENSG00000099204 112 0 0.00 53 10 15.87 - - - ADAMTSL3 0 genome.wustl.edu 37 15 84651456 84651456 + Silent SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 15 84651456 84651456 T C SNP ADAMTSL3 ENST00000286744 human ensembl 69_37n +1 known silent c.3076 p.L1026 0.209 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 75 0 0.00 50 9 15.25 - - - ANGEL1 0 genome.wustl.edu 37 14 77274333 77274333 + Missense_Mutation SNP G G C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 14 77274333 77274333 G C SNP ANGEL1 ENST00000251089 human ensembl 69_37n -1 known missense c.808 p.P270A 0.359 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 98 0 0.00 41 17 29.31 - - - ARFGEF1 0 genome.wustl.edu 37 8 68123739 68123739 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 8 68123739 68123739 T C SNP ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known missense c.4798 p.S1600G 0.765 NULL pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 47 0 0.00 64 8 11.11 - - - ARHGAP15 0 genome.wustl.edu 37 2 144314050 144314050 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 144314050 144314050 C A SNP ARHGAP15 ENST00000295095 human ensembl 69_37n +1 known missense c.999 p.N333K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 200 0 0.00 94 20 17.54 - - - ARHGAP24 0 genome.wustl.edu 37 4 86844830 86844830 + Missense_Mutation SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 4 86844830 86844830 C T SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known missense c.298 p.H100Y 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 64 0 0.00 34 14 29.17 - - - ARHGEF35 0 genome.wustl.edu 37 7 143884086 143884086 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 143884086 143884086 G T SNP ARHGEF35 ENST00000378115 human ensembl 69_37n -1 known missense c.1391 p.S464Y 0.010 NULL NULL - no_errors ARHGEF35 HGNC ENSG00000213214 48 0 0.00 18 9 33.33 - - - AXDND1 0 genome.wustl.edu 37 1 179335674 179335674 + Silent SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 179335674 179335674 G T SNP AXDND1 ENST00000367618 human ensembl 69_37n +1 known silent c.30 p.P10 0.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 83 0 0.00 76 13 14.61 - - - BCL11B 0 genome.wustl.edu 37 14 99640525 99640525 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 14 99640525 99640525 G T SNP BCL11B ENST00000357195 human ensembl 69_37n -1 known missense c.2648 p.T883N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 72 0 0.00 43 7 14.00 - - - BIRC6 0 genome.wustl.edu 37 2 32743984 32743984 + Missense_Mutation SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 32743984 32743984 C T SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.11594 p.T3865I 0.998 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 135 0 0.00 83 15 15.31 - - - C11orf88 0 genome.wustl.edu 37 11 111385611 111385611 + Silent SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 11 111385611 111385611 C G SNP C11orf88 ENST00000529167 human ensembl 69_37n +1 known silent c.102 p.A34 0.000 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 39 0 0.00 40 6 13.04 - - - C1orf173 0 genome.wustl.edu 37 1 75037347 75037347 + Silent SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 75037347 75037347 C A SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known silent c.4047 p.T1349 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 148 0 0.00 108 52 32.50 - - - CCDC50 0 genome.wustl.edu 37 3 191093233 191093233 + Silent SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 3 191093233 191093233 C T SNP CCDC50 ENST00000392456 human ensembl 69_37n +1 known silent c.831 p.P277 0.890 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 111 0 0.00 87 12 12.12 - - - CCRL2 0 genome.wustl.edu 37 3 46450435 46450435 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 3 46450435 46450435 G A SNP CCRL2 ENST00000357392 human ensembl 69_37n +1 known missense c.901 p.A301T 0.912 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCRL2 HGNC ENSG00000121797 98 0 0.00 85 49 36.03 - - - CDC20 0 genome.wustl.edu 37 1 43828729 43828729 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 43828729 43828729 C G SNP CDC20 ENST00000310955 human ensembl 69_37n +1 known missense c.1429 p.P477A 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 51 0 0.00 31 6 16.22 - - - CDH7 0 genome.wustl.edu 37 18 63476962 63476962 + Missense_Mutation SNP G G C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 18 63476962 63476962 G C SNP CDH7 ENST00000323011 human ensembl 69_37n +1 known missense c.233 p.G78A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 90 0 0.00 64 16 20.00 - - - CDHR1 0 genome.wustl.edu 37 10 85970822 85970822 + Silent SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 10 85970822 85970822 C G SNP CDHR1 ENST00000372117 human ensembl 69_37n +1 known silent c.1386 p.L462 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 55 0 0.00 30 14 31.82 - - - CDS1 0 genome.wustl.edu 37 4 85538784 85538784 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 4 85538784 85538784 A T SNP CDS1 ENST00000295887 human ensembl 69_37n +1 known missense c.410 p.Y137F 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 157 0 0.00 95 34 26.36 - - - CENPE 0 genome.wustl.edu 37 4 104061038 104061038 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 4 104061038 104061038 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.6112 p.A2038P 0.555 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 215 0 0.00 146 43 22.75 - - - CFH 0 genome.wustl.edu 37 1 196643014 196643014 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 196643014 196643014 C A SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.272 p.T91N 0.123 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 271 0 0.00 156 39 20.00 - - - CHD2 0 genome.wustl.edu 37 15 93540500 93540500 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 15 93540500 93540500 G A SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative missense c.3752 p.R1251H 0.999 superfamily_Homeodomain-like pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,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 198 0 0.00 92 15 14.02 - - - CPED1 0 genome.wustl.edu 37 7 120740066 120740066 + Missense_Mutation SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 120740066 120740066 C T SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.836 p.T279M 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 163 0 0.00 165 34 17.09 - - - CPED1 0 genome.wustl.edu 37 7 120935519 120935519 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 120935519 120935519 A T SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.2894 p.E965V 0.620 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 87 0 0.00 71 16 18.39 - - - CPVL 0 genome.wustl.edu 37 7 29135737 29135737 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 29135737 29135737 C A SNP CPVL ENST00000265394 human ensembl 69_37n -1 known missense c.385 p.V129F 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 53 0 0.00 41 11 21.15 - - - CR1 0 genome.wustl.edu 37 1 207697077 207697077 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 207697077 207697077 G A SNP CR1 ENST00000529814 human ensembl 69_37n +1 novel missense c.536 p.R179K 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CR1 HGNC ENSG00000203710 105 0 0.00 94 23 19.66 - - - CSMD1 0 genome.wustl.edu 37 8 3224613 3224613 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 8 3224613 3224613 T C SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.3059 p.Q1020R 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 109 0 0.00 76 20 20.83 - - - DNAH3 0 genome.wustl.edu 37 16 20970646 20970646 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 16 20970646 20970646 T C SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.10681 p.I3561V 0.994 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 121 0 0.00 84 28 25.00 - - - DNAH5 0 genome.wustl.edu 37 5 13735385 13735385 + Silent SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 5 13735385 13735385 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.11616 p.I3872 0.001 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 74 0 0.00 77 11 12.50 - - - DNAH7 0 genome.wustl.edu 37 2 196723282 196723282 + Silent SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 196723282 196723282 G A SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known silent c.7983 p.I2661 0.998 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 136 0 0.00 102 59 36.65 - - - DYRK4 0 genome.wustl.edu 37 12 4721739 4721739 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 12 4721739 4721739 C A SNP DYRK4 ENST00000010132 human ensembl 69_37n +1 known missense c.1176 p.D392E 0.812 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors DYRK4 HGNC ENSG00000010219 60 0 0.00 47 15 24.19 - - - EIF2AK4 0 genome.wustl.edu 37 15 40308734 40308734 + Missense_Mutation SNP A A C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 15 40308734 40308734 A C SNP EIF2AK4 ENST00000263791 human ensembl 69_37n +1 known missense c.3791 p.K1264T 1.000 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK4 HGNC ENSG00000128829 106 0 0.00 76 14 15.56 - - - ENSG00000207844 0 genome.wustl.edu 37 17 26603520 26603520 + RNA SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 26603520 26603520 G A SNP ENSG00000207844 ENST00000385109 human ensembl 69_37n -1 known rna NULL NULL 0.425 - - - no_errors AC061975.8 Clone_based_ensembl_gene ENSG00000207844 15 0 0.00 11 4 26.67 - - - ENSG00000266830 0 genome.wustl.edu 37 17 26574486 26574486 + RNA SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 26574486 26574486 G A SNP ENSG00000266830 ENST00000579045 human ensembl 69_37n -1 known rna NULL NULL 0.226 - - - no_errors CTD-2008P7.8 Clone_based_vega_gene ENSG00000266830 32 0 0.00 27 8 22.86 - - - FAM25A 0 genome.wustl.edu 37 10 88784395 88784395 + Silent SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 10 88784395 88784395 C T SNP FAM25A ENST00000343959 human ensembl 69_37n +1 known silent c.234 p.T78 0.846 prints_FAM25 prints_FAM25 - no_errors FAM25A HGNC ENSG00000188100 582 0 0.00 412 294 41.64 - - - FBXO10 0 genome.wustl.edu 37 9 37521593 37521593 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 9 37521593 37521593 C G SNP FBXO10 ENST00000432825 human ensembl 69_37n -1 known missense c.2173 p.E725Q 1.000 smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom_cyclin-like,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 56 0 0.00 7 10 58.82 - - - FHAD1 0 genome.wustl.edu 37 1 15687065 15687065 + Missense_Mutation SNP A A C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 15687065 15687065 A C SNP FHAD1 ENST00000375999 human ensembl 69_37n +1 known missense c.2762 p.E921A 0.081 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 97 0 0.00 63 18 22.22 - - - FLG 0 genome.wustl.edu 37 1 152279767 152279767 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 152279767 152279767 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.7595 p.S2532L 0.001 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 258 0 0.00 258 306 54.26 - - - FRG1B 0 genome.wustl.edu 37 20 29612353 29612353 + RNA SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 20 29612353 29612353 C T SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors FRG1B HGNC ENSG00000149531 23 0 0.00 13 4 23.53 - - - FUT4 0 genome.wustl.edu 37 11 94278568 94278568 + Silent SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 11 94278568 94278568 C A SNP FUT4 ENST00000358752 human ensembl 69_37n +1 known silent c.1269 p.T423 0.004 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 28 0 0.00 13 11 45.83 - - - GPR174 0 genome.wustl.edu 37 X 78427212 78427212 + Silent SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 X 78427212 78427212 A G SNP GPR174 ENST00000276077 human ensembl 69_37n +1 known silent c.708 p.A236 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC ENSG00000147138 104 0 0.00 63 15 19.23 - - - GRM8 0 genome.wustl.edu 37 7 126079180 126079180 + Nonsense_Mutation SNP G G C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 126079180 126079180 G C SNP GRM8 ENST00000339582 human ensembl 69_37n -1 known nonsense c.2720 p.S907* 1.000 prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 327 0 0.00 267 49 15.51 - - - HECW2 0 genome.wustl.edu 37 2 197081766 197081766 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 197081766 197081766 C A SNP HECW2 ENST00000260983 human ensembl 69_37n -1 known missense c.4460 p.R1487I 1.000 pfam_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 144 0 0.00 99 67 40.36 - - - HLA-C 0 genome.wustl.edu 37 6 31239446 31239446 + Nonsense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 6 31239446 31239446 G A SNP HLA-C ENST00000415537 human ensembl 69_37n -1 novel nonsense c.271 p.Q91* 0.025 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HLA-C HGNC ENSG00000204525 96 0 0.00 69 18 20.69 - - - HOXA13 0 genome.wustl.edu 37 7 27238809 27238809 + Silent SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 27238809 27238809 C G SNP HOXA13 ENST00000222753 human ensembl 69_37n -1 known silent c.888 p.A296 1.000 superfamily_Homeodomain-like pfam_HoxA13_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1 - no_errors HOXA13 HGNC ENSG00000106031 70 0 0.00 16 4 20.00 - - - HYOU1 0 genome.wustl.edu 37 11 118926221 118926221 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 11 118926221 118926221 T C SNP HYOU1 ENST00000404233 human ensembl 69_37n -1 known missense c.248 p.D83G 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 72 0 0.00 61 25 29.07 - - - IDS 0 genome.wustl.edu 37 X 148568556 148568556 + Silent SNP T T G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 X 148568556 148568556 T G SNP IDS ENST00000340855 human ensembl 69_37n -1 known silent c.1080 p.I360 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 61 0 0.00 35 14 28.57 - - - IL6ST 0 genome.wustl.edu 37 5 55237584 55237584 + Nonsense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 5 55237584 55237584 C A SNP IL6ST ENST00000336909 human ensembl 69_37n -1 known nonsense c.2083 p.E695* 1.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 49 0 0.00 34 11 24.44 - - - INHA 0 genome.wustl.edu 37 2 220437265 220437265 + Frame_Shift_Del DEL C C - TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 220437265 220437265 C - DEL INHA ENST00000243786 human ensembl 69_37n +1 known frame_shift_del c.169 p.R57fs 0.993 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 11 0 0.00 6 5 45.45 - - - KAT6B 0 genome.wustl.edu 37 10 76735881 76735881 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 10 76735881 76735881 C G SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known missense c.1786 p.R596G 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 64 0 0.00 53 6 10.17 - - - KCND2 0 genome.wustl.edu 37 7 119915360 119915360 + Missense_Mutation SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 119915360 119915360 A G SNP KCND2 ENST00000331113 human ensembl 69_37n +1 known missense c.674 p.Y225C 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 112 0 0.00 103 38 26.95 - - - KDM3A 0 genome.wustl.edu 37 2 86718115 86718115 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 86718115 86718115 C G SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known missense c.3685 p.Q1229E 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 114 0 0.00 103 12 10.43 - - - KIF27 0 genome.wustl.edu 37 9 86514613 86514613 + Missense_Mutation SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 9 86514613 86514613 A G SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known missense c.1565 p.V522A 0.101 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 168 0 0.00 165 23 12.23 - - - KNTC1 0 genome.wustl.edu 37 12 123107016 123107016 + Missense_Mutation SNP G G C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 12 123107016 123107016 G C SNP KNTC1 ENST00000333479 human ensembl 69_37n +1 known missense c.6377 p.S2126T 0.908 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 63 0 0.00 61 10 14.08 - - - KRT20 0 genome.wustl.edu 37 17 39034526 39034526 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 39034526 39034526 G T SNP KRT20 ENST00000167588 human ensembl 69_37n -1 known missense c.1010 p.A337D 0.029 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 200 0 0.00 116 34 22.67 - - - LMOD1 0 genome.wustl.edu 37 1 201868906 201868906 + Missense_Mutation SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 201868906 201868906 A G SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known missense c.1235 p.L412P 0.980 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 194 0 0.00 147 58 28.29 - - - LPP 0 genome.wustl.edu 37 3 188584023 188584023 + Silent SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 3 188584023 188584023 C G SNP LPP ENST00000312675 human ensembl 69_37n +1 known silent c.1446 p.P482 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 119 0 0.00 139 22 13.66 - - - LRRC7 0 genome.wustl.edu 37 1 70225882 70225882 + Silent SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 70225882 70225882 C T SNP LRRC7 ENST00000310961 human ensembl 69_37n +1 known silent c.10 p.L4 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 25 0 0.00 26 6 18.75 - - - MAP2 0 genome.wustl.edu 37 2 210565003 210565003 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 210565003 210565003 G A SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.4525 p.A1509T 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 138 0 0.00 92 27 22.69 - - - MBD3L1 0 genome.wustl.edu 37 19 8953820 8953820 + Missense_Mutation SNP A A C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 19 8953820 8953820 A C SNP MBD3L1 ENST00000305625 human ensembl 69_37n +1 known missense c.466 p.K156Q 0.034 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 29 0 0.00 21 10 32.26 - - - MCF2L 0 genome.wustl.edu 37 13 113742701 113742701 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 13 113742701 113742701 C G SNP MCF2L ENST00000375604 human ensembl 69_37n +1 known missense c.2920 p.Q974E 1.000 smart_Pleckstrin_homology pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 67 0 0.00 124 27 17.88 - - - MOV10 0 genome.wustl.edu 37 1 113232573 113232573 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 113232573 113232573 G A SNP MOV10 ENST00000357443 human ensembl 69_37n +1 known missense c.689 p.G230D 0.989 NULL NULL - no_errors MOV10 HGNC ENSG00000155363 43 0 0.00 23 7 23.33 - - - MYH8 0 genome.wustl.edu 37 17 10300124 10300124 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 10300124 10300124 T C SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.4358 p.D1453G 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 148 0 0.00 116 25 17.73 - - - MYT1 0 genome.wustl.edu 37 20 62871224 62871224 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 20 62871224 62871224 C A SNP MYT1 ENST00000536311 human ensembl 69_37n +1 known missense c.3286 p.Q1096K 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 39 0 0.00 10 19 65.52 - - - NBEA 0 genome.wustl.edu 37 13 35770032 35770032 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 13 35770032 35770032 A T SNP NBEA ENST00000310336 human ensembl 69_37n +1 known missense c.4959 p.K1653N 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 11 0 0.00 5 4 44.44 - - - OR10G9 0 genome.wustl.edu 37 11 123894114 123894114 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 11 123894114 123894114 C A SNP OR10G9 ENST00000375024 human ensembl 69_37n +1 known missense c.395 p.T132N 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 106 0 0.00 66 79 54.48 - - - OR6T1 0 genome.wustl.edu 37 11 123813968 123813968 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 11 123813968 123813968 T C SNP OR6T1 ENST00000321252 human ensembl 69_37n -1 known missense c.578 p.H193R 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 33 0 0.00 29 6 17.14 - - - PABPN1L 0 genome.wustl.edu 37 16 88932941 88932941 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 16 88932941 88932941 G T SNP PABPN1L ENST00000427766 human ensembl 69_37n -1 known missense c.74 p.P25H 0.733 NULL NULL - no_errors PABPN1L HGNC ENSG00000205022 56 0 0.00 18 13 41.94 - - - PARP1 0 genome.wustl.edu 37 1 226579990 226579990 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 226579990 226579990 G T SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known missense c.312 p.S104R 1.000 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 179 1 0.56 99 52 34.44 - - - PAXIP1 0 genome.wustl.edu 37 7 154753359 154753359 + Splice_Site SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 154753359 154753359 C G SNP PAXIP1 ENST00000397192 human ensembl 69_37n -1 known splice_site c.2128-1 e11-1 1.000 - - - no_errors PAXIP1 HGNC ENSG00000157212 90 0 0.00 69 26 27.37 - - - PCDHB1 0 genome.wustl.edu 37 5 140431880 140431880 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 5 140431880 140431880 A T SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known missense c.825 p.K275N 0.219 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 PCDHB1 HGNC ENSG00000171815 53 0 0.00 34 15 30.61 - - - PLCL1 0 genome.wustl.edu 37 2 198949886 198949886 + Missense_Mutation SNP G G C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 198949886 198949886 G C SNP PLCL1 ENST00000428675 human ensembl 69_37n +1 known missense c.1645 p.D549H 0.004 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCL1 HGNC ENSG00000115896 59 0 0.00 36 6 14.29 - - - POLR3D 0 genome.wustl.edu 37 8 22106154 22106154 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 8 22106154 22106154 C G SNP POLR3D ENST00000397802 human ensembl 69_37n +1 known missense c.647 p.A216G 0.001 NULL pfam_RNA_pol_III_Rpc4 - no_errors POLR3D HGNC ENSG00000168495 61 0 0.00 36 8 18.18 - - - RAB19 0 genome.wustl.edu 37 7 140110775 140110775 + Missense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 140110775 140110775 C A SNP RAB19 ENST00000275874 human ensembl 69_37n +1 known missense c.204 p.N68K 0.017 pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAB19 HGNC ENSG00000146955 100 0 0.00 89 12 11.88 - - - RAB37 0 genome.wustl.edu 37 17 72725505 72725505 + Silent SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 72725505 72725505 G A SNP RAB37 ENST00000402449 human ensembl 69_37n +1 known silent c.183 p.T61 0.972 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,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,smart_Small_GTPase_ARF,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 RAB37 HGNC ENSG00000172794 81 0 0.00 76 14 15.56 - - - RAD51AP2 0 genome.wustl.edu 37 2 17696790 17696790 + Missense_Mutation SNP T T C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 17696790 17696790 T C SNP RAD51AP2 ENST00000399080 human ensembl 69_37n -1 known missense c.2893 p.K965E 1.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 66 0 0.00 44 14 24.14 - - - RBP4 0 genome.wustl.edu 37 10 95353681 95353681 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 10 95353681 95353681 G A SNP RBP4 ENST00000371464 human ensembl 69_37n -1 known missense c.467 p.S156F 0.993 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd,prints_Lipocalin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd,prints_Lipocalin - no_errors RBP4 HGNC ENSG00000138207 45 0 0.00 31 7 18.42 - - - RFFL 0 genome.wustl.edu 37 17 33348610 33348610 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 33348610 33348610 C G SNP RFFL ENST00000315249 human ensembl 69_37n -1 known missense c.371 p.R124P 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 64 0 0.00 64 12 15.79 - - - RHOBTB2 0 genome.wustl.edu 37 8 22862905 22862905 + Silent SNP C C T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 8 22862905 22862905 C T SNP RHOBTB2 ENST00000251822 human ensembl 69_37n +1 known silent c.213 p.D71 0.989 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 72 0 0.00 53 14 20.90 - - - RIMBP2 0 genome.wustl.edu 37 12 130941040 130941040 + Splice_Site SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 12 130941040 130941040 C G SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known splice_site c.307+1 e2+1 1.000 - - - no_errors RIMBP2 HGNC ENSG00000060709 23 0 0.00 4 7 63.64 - - - RNASE7 0 genome.wustl.edu 37 14 21511331 21511331 + Silent SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 14 21511331 21511331 G A SNP RNASE7 ENST00000298690 human ensembl 69_37n +1 known silent c.180 p.K60 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE7 HGNC ENSG00000165799 99 0 0.00 56 51 47.22 - - - RPL8 0 genome.wustl.edu 37 8 146016828 146016829 + Frame_Shift_Ins INS - - GG TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 8 146016828 146016829 - GG INS RPL8 ENST00000262584 human ensembl 69_37n -1 known frame_shift_ins c.333_332 p.I112fs 0.997:1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 31 0 0.00 23 6 20.69 - - - SCN2A 0 genome.wustl.edu 37 2 166245597 166245597 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 166245597 166245597 A T SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.5281 p.I1761F 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 227 0 0.00 117 99 45.83 - - - SHB 0 genome.wustl.edu 37 9 37948743 37948743 + Missense_Mutation SNP T T G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 9 37948743 37948743 T G SNP SHB ENST00000377707 human ensembl 69_37n -1 known missense c.1235 p.H412P 1.000 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors SHB HGNC ENSG00000107338 44 0 0.00 27 11 28.95 - - - SHISA6 0 genome.wustl.edu 37 17 11166794 11166794 + Silent SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 11166794 11166794 G T SNP SHISA6 ENST00000441885 human ensembl 69_37n +1 known silent c.750 p.S250 0.163 NULL NULL - no_errors SHISA6 HGNC ENSG00000188803 107 0 0.00 80 41 33.88 - - - SLC13A2 0 genome.wustl.edu 37 17 26818766 26818766 + Silent SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 26818766 26818766 C A SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known silent c.921 p.G307 0.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 118 0 0.00 73 24 24.74 - - - SLC17A8 0 genome.wustl.edu 37 12 100796149 100796149 + Nonsense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 12 100796149 100796149 G A SNP SLC17A8 ENST00000323346 human ensembl 69_37n +1 known nonsense c.795 p.W265* 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 217 0 0.00 133 35 20.71 - - - SLC2A12 0 genome.wustl.edu 37 6 134350198 134350198 + Silent SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 6 134350198 134350198 G A SNP SLC2A12 ENST00000275230 human ensembl 69_37n -1 known silent c.765 p.S255 0.983 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 88 0 0.00 55 10 15.38 - - - SMOC2 0 genome.wustl.edu 37 6 169053662 169053662 + Missense_Mutation SNP C C G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 6 169053662 169053662 C G SNP SMOC2 ENST00000354536 human ensembl 69_37n +1 known missense c.1072 p.L358V 1.000 pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_HAND_2 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 56 0 0.00 26 7 21.21 - - - SNX32 0 genome.wustl.edu 37 11 65620233 65620233 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 11 65620233 65620233 G A SNP SNX32 ENST00000308342 human ensembl 69_37n +1 known missense c.1045 p.E349K 0.999 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 26 0 0.00 15 5 25.00 - - - SPTBN1 0 genome.wustl.edu 37 2 54870174 54870174 + Nonsense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 54870174 54870174 G T SNP SPTBN1 ENST00000356805 human ensembl 69_37n +1 known nonsense c.3913 p.E1305* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 51 0 0.00 57 9 13.64 - - - STT3B 0 genome.wustl.edu 37 3 31665175 31665175 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 3 31665175 31665175 G A SNP STT3B ENST00000295770 human ensembl 69_37n +1 known missense c.1549 p.V517M 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 147 0 0.00 126 32 20.25 - - - SVOPL 0 genome.wustl.edu 37 7 138363783 138363783 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 138363783 138363783 G T SNP SVOPL ENST00000419765 human ensembl 69_37n -1 known missense c.8 p.T3N 0.053 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 129 0 0.00 97 14 12.61 - - - TAOK3 0 genome.wustl.edu 37 12 118615098 118615098 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 12 118615098 118615098 G T SNP TAOK3 ENST00000392533 human ensembl 69_37n -1 known missense c.1603 p.Q535K 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors TAOK3 HGNC ENSG00000135090 228 1 0.44 162 41 20.20 - - - TGFB3 0 genome.wustl.edu 37 14 76446997 76446997 + Silent SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 14 76446997 76446997 C A SNP TGFB3 ENST00000238682 human ensembl 69_37n -1 known silent c.240 p.L80 1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3 pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 124 0 0.00 110 29 20.86 - - - TMEM245 0 genome.wustl.edu 37 9 111812873 111812873 + Missense_Mutation SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 9 111812873 111812873 G T SNP TMEM245 ENST00000374586 human ensembl 69_37n -1 known missense c.1954 p.L652I 1.000 pfam_UPF0118 pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 112 0 0.00 73 15 17.05 - - - TMPRSS15 0 genome.wustl.edu 37 21 19666941 19666941 + Silent SNP G G T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 21 19666941 19666941 G T SNP TMPRSS15 ENST00000284885 human ensembl 69_37n -1 known silent c.2290 p.R764 0.701 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS15 HGNC ENSG00000154646 120 0 0.00 50 27 35.06 - - - TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 17 7578271 7578271 T A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.578 p.H193L 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 111 0 0.00 63 48 43.24 - - - TWF1 0 genome.wustl.edu 37 12 44191587 44191587 + Missense_Mutation SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 12 44191587 44191587 A G SNP TWF1 ENST00000325127 human ensembl 69_37n -1 known missense c.635 p.V212A 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 115 0 0.00 68 19 21.84 - - - UBR3 0 genome.wustl.edu 37 2 170751798 170751798 + Missense_Mutation SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 2 170751798 170751798 A G SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.1213 p.M405V 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 36 0 0.00 14 18 56.25 - - - UBR4 0 genome.wustl.edu 37 1 19494604 19494604 + Silent SNP A A C TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 19494604 19494604 A C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.3816 p.T1272 0.849 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 41 0 0.00 16 12 42.86 - - - UNC79 0 genome.wustl.edu 37 14 94088952 94088952 + Silent SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 14 94088952 94088952 C A SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known silent c.5439 p.P1813 0.102 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 50 0 0.00 25 6 19.35 - - - URB2 0 genome.wustl.edu 37 1 229771028 229771028 + Missense_Mutation SNP G G A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 229771028 229771028 G A SNP URB2 ENST00000258243 human ensembl 69_37n +1 known missense c.668 p.G223D 0.115 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 46 0 0.00 21 24 52.17 - - - VCAM1 0 genome.wustl.edu 37 1 101190442 101190442 + Silent SNP T T A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 101190442 101190442 T A SNP VCAM1 ENST00000294728 human ensembl 69_37n +1 known silent c.924 p.V308 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 161 0 0.00 80 44 35.48 - - - WNT2 0 genome.wustl.edu 37 7 116955248 116955248 + Silent SNP A A G TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 7 116955248 116955248 A G SNP WNT2 ENST00000265441 human ensembl 69_37n -1 known silent c.465 p.G155 0.995 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 166 0 0.00 148 58 28.16 - - - ZNF644 0 genome.wustl.edu 37 1 91383613 91383613 + Missense_Mutation SNP A A T TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 1 91383613 91383613 A T SNP ZNF644 ENST00000337393 human ensembl 69_37n -1 known missense c.3787 p.C1263S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 284 0 0.00 253 62 19.68 - - - ZNF682 0 genome.wustl.edu 37 19 20117638 20117638 + Nonsense_Mutation SNP C C A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 19 20117638 20117638 C A SNP ZNF682 ENST00000397165 human ensembl 69_37n -1 known nonsense c.673 p.G225* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 92 0 0.00 121 27 18.12 - - - ZNF705G 0 genome.wustl.edu 37 8 7217781 7217781 + Silent SNP T T A TCGA-D8-A1JL-01A-11D-A13L-09 TCGA-D8-A1JL-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 425dbc9f-6bee-412a-b77a-22a2724ea4c6 7929b553-0e4b-4bd4-ad98-5256d9aca6b8 8 7217781 7217781 T A SNP ZNF705G ENST00000400078 human ensembl 69_37n -1 known silent c.213 p.V71 0.270 pfscan_Krueppel-associated_box 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 ZNF705G HGNC ENSG00000215372 248 0 0.00 274 32 10.46 - - -