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 AARS 0 genome.wustl.edu 37 16 70295012 70295012 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 16 70295012 70295012 G A SNP AARS ENST00000565361 human ensembl 69_37n -1 novel missense c.65 p.A22V 1.000 pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AARS HGNC ENSG00000090861 248 0 0.00 144 60 29.41 - - - ACTN2 0 genome.wustl.edu 37 1 236902735 236902735 + Frame_Shift_Del DEL A A - TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 236902735 236902735 A - DEL ACTN2 ENST00000366578 human ensembl 69_37n +1 known frame_shift_del c.1010 p.E337fs 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 108 0 0.00 89 18 16.36 - - - ADAMTS19 0 genome.wustl.edu 37 5 129040021 129040021 + Missense_Mutation SNP G G T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 5 129040021 129040021 G T SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known missense c.3231 p.R1077S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 140 0 0.00 100 19 15.97 - - - ADAMTSL2 0 genome.wustl.edu 37 9 136412259 136412259 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 9 136412259 136412259 G A SNP ADAMTSL2 ENST00000393061 human ensembl 69_37n +1 known missense c.1190 p.R397Q 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 70 0 0.00 39 20 33.90 - - - AKAP6 0 genome.wustl.edu 37 14 33291628 33291628 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 14 33291628 33291628 G A SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.4609 p.D1537N 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 81 0 0.00 62 8 11.43 - - - AMDHD1 0 genome.wustl.edu 37 12 96360231 96360231 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 12 96360231 96360231 C A SNP AMDHD1 ENST00000266736 human ensembl 69_37n +1 known missense c.1138 p.H380N 1.000 pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 95 0 0.00 67 25 26.88 - - - BAHCC1 0 genome.wustl.edu 37 17 79429821 79429821 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 17 79429821 79429821 G A SNP BAHCC1 ENST00000307745 human ensembl 69_37n +1 known missense c.7439 p.G2480D 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHCC1 HGNC ENSG00000171282 51 0 0.00 28 17 37.78 - - - CACNA1G 0 genome.wustl.edu 37 17 48646591 48646591 + Silent SNP C C G TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 17 48646591 48646591 C G SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known silent c.420 p.G140 0.925 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 400 0 0.00 250 123 32.98 - - - CENPE 0 genome.wustl.edu 37 4 104115811 104115811 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 4 104115811 104115811 C T SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.508 p.E170K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 293 0 0.00 179 50 21.83 - - - CEP170 0 genome.wustl.edu 37 1 243329334 243329334 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 243329334 243329334 C T SNP CEP170 ENST00000366542 human ensembl 69_37n -1 known missense c.1928 p.R643Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 168 0 0.00 86 40 31.75 - - - DCAF4L2 0 genome.wustl.edu 37 8 88885659 88885659 + Missense_Mutation SNP G G T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 8 88885659 88885659 G T SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known missense c.541 p.Q181K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 158 1 0.63 167 53 24.09 - - - DOCK11 0 genome.wustl.edu 37 X 117699984 117699984 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 X 117699984 117699984 G A SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.710 p.R237H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 180 1 0.55 100 13 11.50 - - - DOCK9 0 genome.wustl.edu 37 13 99575591 99575591 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 13 99575591 99575591 C T SNP DOCK9 ENST00000339416 human ensembl 69_37n -1 known missense c.454 p.V152I 1.000 pfam_DUF3398 pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 146 0 0.00 139 40 22.35 - - - DPYSL5 0 genome.wustl.edu 37 2 27169788 27169788 + Silent SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 2 27169788 27169788 C T SNP DPYSL5 ENST00000288699 human ensembl 69_37n +1 known silent c.1620 p.I540 0.987 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 84 0 0.00 45 9 16.67 - - - F5 0 genome.wustl.edu 37 1 169541460 169541460 + Missense_Mutation SNP T T G TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 169541460 169541460 T G SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.372 p.E124D 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 154 0 0.00 151 24 13.71 - - - FAM131A 0 genome.wustl.edu 37 3 184055444 184055444 + Missense_Mutation SNP A A G TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 3 184055444 184055444 A G SNP FAM131A ENST00000383847 human ensembl 69_37n +1 known missense c.26 p.K9R 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 156 0 0.00 133 21 13.64 - - - FAM98C 0 genome.wustl.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 19 38899502 38899504 AAG - DEL FAM98C ENST00000252530 human ensembl 69_37n +1 known in_frame_del c.1030_1032 p.K347in_frame_del 0.830:0.873:0.987 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 50 0 0.00 27 3 10.00 - - - GPSM1 0 genome.wustl.edu 37 9 139231983 139231983 + Silent SNP T T C TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 9 139231983 139231983 T C SNP GPSM1 ENST00000440944 human ensembl 69_37n +1 known silent c.664 p.L222 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 37 0 0.00 23 9 25.71 - - - GRPEL2 0 genome.wustl.edu 37 5 148730599 148730599 + Frame_Shift_Del DEL C C - TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 5 148730599 148730599 C - DEL GRPEL2 ENST00000329271 human ensembl 69_37n +1 known frame_shift_del c.432 p.R145fs 0.999 pfam_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL2 HGNC ENSG00000164284 70 0 0.00 61 14 18.67 - - - HAAO 0 genome.wustl.edu 37 2 42997323 42997323 + Silent SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 2 42997323 42997323 G A SNP HAAO ENST00000294973 human ensembl 69_37n -1 known silent c.444 p.F148 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 63 0 0.00 48 28 36.84 - - - HAUS7 0 genome.wustl.edu 37 X 152722094 152722094 + Silent SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 X 152722094 152722094 G A SNP HAUS7 ENST00000370212 human ensembl 69_37n -1 known silent c.492 p.F164 0.000 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 40 0 0.00 23 6 20.00 - - - IRX4 0 genome.wustl.edu 37 5 1878883 1878884 + In_Frame_Ins INS - - TTT TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 5 1878883 1878884 - TTT INS IRX4 ENST00000231357 human ensembl 69_37n -1 known in_frame_ins c.760_759 p.253in_frame_insK 1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ENSG00000113430 25 0 0.00 16 5 23.81 - - - KDM4E 0 genome.wustl.edu 37 11 94759830 94759830 + Missense_Mutation SNP G G T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 11 94759830 94759830 G T SNP KDM4E ENST00000450979 human ensembl 69_37n +1 known missense c.1109 p.G370V 0.032 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 56 0 0.00 49 17 25.37 - - - KIAA1211L 0 genome.wustl.edu 37 2 99443462 99443462 + Silent SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 2 99443462 99443462 C T SNP KIAA1211L ENST00000397899 human ensembl 69_37n -1 known silent c.711 p.S237 0.506 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 60 0 0.00 52 9 14.75 - - - KLHL23 0 genome.wustl.edu 37 2 170592266 170592266 + Missense_Mutation SNP A A C TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 2 170592266 170592266 A C SNP KLHL23 ENST00000272797 human ensembl 69_37n +1 known missense c.742 p.T248P 0.595 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 74 0 0.00 76 10 11.63 - - - KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 69_37n -1 known missense c.35 p.G12V 1.000 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 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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 KRAS HGNC ENSG00000133703 229 0 0.00 159 96 37.65 - - - MRPL45 0 genome.wustl.edu 37 17 36453165 36453165 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 17 36453165 36453165 C T SNP MRPL45 ENST00000312513 human ensembl 69_37n +1 known missense c.16 p.P6S 0.010 NULL pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45 - no_errors MRPL45 HGNC ENSG00000174100 309 0 0.00 209 25 10.68 - - - MYH7 0 genome.wustl.edu 37 14 23894523 23894523 + Frame_Shift_Del DEL G G - TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 14 23894523 23894523 G - DEL MYH7 ENST00000355349 human ensembl 69_37n -1 known frame_shift_del c.2391 p.R798fs 0.693 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,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 MYH7 HGNC ENSG00000092054 131 0 0.00 65 31 32.29 - - - MYO3A 0 genome.wustl.edu 37 10 26243835 26243835 + Silent SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 10 26243835 26243835 C T SNP MYO3A ENST00000265944 human ensembl 69_37n +1 known silent c.201 p.N67 1.000 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 pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 147 0 0.00 153 22 12.50 - - - NOP2 0 genome.wustl.edu 37 12 6670928 6670928 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 12 6670928 6670928 C T SNP NOP2 ENST00000322166 human ensembl 69_37n -1 known missense c.1109 p.G370E 1.000 pfam_Fmu/NOL1/Nop2p,prints_RCMT,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 80 0 0.00 50 11 18.03 - - - NR4A1 0 genome.wustl.edu 37 12 52451283 52451283 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 12 52451283 52451283 C T SNP NR4A1 ENST00000550582 human ensembl 69_37n +1 putative missense c.314 p.S105L 0.991 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region NR4A1 HGNC ENSG00000123358 137 0 0.00 66 31 31.63 - - - NTHL1 0 genome.wustl.edu 37 16 2090176 2090176 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 16 2090176 2090176 G A SNP NTHL1 ENST00000219066 human ensembl 69_37n -1 known missense c.773 p.S258F 0.869 pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 87 0 0.00 48 15 23.81 - - - OSMR 0 genome.wustl.edu 37 5 38904586 38904586 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 5 38904586 38904586 C A SNP OSMR ENST00000274276 human ensembl 69_37n +1 known missense c.1266 p.N422K 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 100 0 0.00 157 25 13.74 - - - PARP15 0 genome.wustl.edu 37 3 122345796 122345796 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 3 122345796 122345796 C A SNP PARP15 ENST00000464300 human ensembl 69_37n +1 known missense c.1354 p.L452M 0.008 pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 226 0 0.00 124 65 34.39 - - - PCDHB12 0 genome.wustl.edu 37 5 140589610 140589610 + Missense_Mutation SNP C C G TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 5 140589610 140589610 C G SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known missense c.1131 p.D377E 0.049 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 PCDHB12 HGNC ENSG00000120328 112 0 0.00 68 21 23.60 - - - PCSK7 0 genome.wustl.edu 37 11 117089867 117089867 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 11 117089867 117089867 C A SNP PCSK7 ENST00000320934 human ensembl 69_37n -1 known missense c.1337 p.R446L 0.006 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 46 0 0.00 36 11 23.40 - - - PDCD11 0 genome.wustl.edu 37 10 105179384 105179384 + Silent SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 10 105179384 105179384 C T SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known silent c.2196 p.L732 0.971 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 144 0 0.00 160 33 17.10 - - - PGBD5 0 genome.wustl.edu 37 1 230503869 230503869 + Missense_Mutation SNP G G T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 230503869 230503869 G T SNP PGBD5 ENST00000321327 human ensembl 69_37n -1 known missense c.146 p.S49Y 0.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 261 0 0.00 224 124 35.63 - - - PIK3CA 0 genome.wustl.edu 37 3 178916936 178916936 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 3 178916936 178916936 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.323 p.R108H 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 79 0 0.00 84 23 21.50 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 142 0 0.00 90 45 33.33 - - - PNPLA6 0 genome.wustl.edu 37 19 7601348 7601348 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 19 7601348 7601348 C T SNP PNPLA6 ENST00000414982 human ensembl 69_37n +1 known missense c.356 p.T119I 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 163 0 0.00 95 56 37.09 - - - QSOX1 0 genome.wustl.edu 37 1 180151338 180151338 + Silent SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 180151338 180151338 C T SNP QSOX1 ENST00000367602 human ensembl 69_37n +1 known silent c.636 p.G212 0.019 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 98 0 0.00 71 21 22.34 - - - RCBTB1 0 genome.wustl.edu 37 13 50134175 50134175 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 13 50134175 50134175 C A SNP RCBTB1 ENST00000258646 human ensembl 69_37n -1 known missense c.323 p.G108V 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,prints_Reg_chr_condens,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_Reg_chr_condens,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 133 0 0.00 117 21 15.22 - - - RYR1 0 genome.wustl.edu 37 19 38951038 38951038 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 19 38951038 38951038 G A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.2384 p.R795H 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 96 0 0.00 61 14 18.67 - - - SSX2IP 0 genome.wustl.edu 37 1 85135415 85135415 + Missense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 85135415 85135415 C A SNP SSX2IP ENST00000342203 human ensembl 69_37n -1 known missense c.375 p.L125F 1.000 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 219 0 0.00 284 38 11.80 - - - STXBP1 0 genome.wustl.edu 37 9 130430385 130430385 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 9 130430385 130430385 C T SNP STXBP1 ENST00000373299 human ensembl 69_37n +1 known missense c.821 p.A274V 0.797 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 47 0 0.00 26 10 27.78 - - - SUPT6H 0 genome.wustl.edu 37 17 27001584 27001584 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 17 27001584 27001584 G A SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.298 p.D100N 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 258 0 0.00 159 91 36.25 - - - TAS2R31 0 genome.wustl.edu 37 12 11183883 11183883 + Missense_Mutation SNP C C G TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 12 11183883 11183883 C G SNP TAS2R31 ENST00000390675 human ensembl 69_37n -1 known missense c.52 p.V18L 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 76 0 0.00 48 15 23.81 - - - TBX3 0 genome.wustl.edu 37 12 115118711 115118711 + Frame_Shift_Del DEL G G - TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 12 115118711 115118711 G - DEL TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_del c.630 p.N211fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 197 0 0.00 133 15 10.07 - - - TEP1 0 genome.wustl.edu 37 14 20873630 20873630 + Nonsense_Mutation SNP C C A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 14 20873630 20873630 C A SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known nonsense c.850 p.E284* 0.999 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 296 0 0.00 218 99 31.23 - - - THRAP3 0 genome.wustl.edu 37 1 36759501 36759501 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 36759501 36759501 G A SNP THRAP3 ENST00000354618 human ensembl 69_37n +1 known missense c.2080 p.D694N 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 197 0 0.00 140 29 17.16 - - - THRAP3 0 genome.wustl.edu 37 1 36759502 36759502 + Missense_Mutation SNP A A T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 1 36759502 36759502 A T SNP THRAP3 ENST00000354618 human ensembl 69_37n +1 known missense c.2081 p.D694V 0.998 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 198 0 0.00 139 28 16.77 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 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 77 0 0.00 39 18 31.58 - - - UNC5CL 0 genome.wustl.edu 37 6 41000851 41000851 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 6 41000851 41000851 G A SNP UNC5CL ENST00000244565 human ensembl 69_37n -1 known missense c.721 p.R241C 0.028 NULL pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 37 0 0.00 17 7 28.00 - - - WDR54 0 genome.wustl.edu 37 2 74651009 74651009 + Missense_Mutation SNP T T C TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 2 74651009 74651009 T C SNP WDR54 ENST00000348227 human ensembl 69_37n +1 known missense c.434 p.F145S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 119 0 0.00 53 29 35.37 - - - ZNF211 0 genome.wustl.edu 37 19 58153270 58153270 + Missense_Mutation SNP G G A TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 19 58153270 58153270 G A SNP ZNF211 ENST00000407202 human ensembl 69_37n +1 putative missense c.1426 p.E476K 0.013 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF211 HGNC ENSG00000121417 201 0 0.00 152 17 10.06 - - - ZNF812 0 genome.wustl.edu 37 19 9800857 9800857 + Missense_Mutation SNP C C T TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx df8c72f3-ca4f-4a15-8d58-976d9c796570 cb269dc6-19ce-4327-9c01-cb7484aa8387 19 9800857 9800857 C T SNP ZNF812 ENST00000457674 human ensembl 69_37n -1 known missense c.1322 p.G441E 0.974 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 ZNF812 HGNC ENSG00000224689 83 0 0.00 49 26 34.67 - - -