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 ABHD2 0 genome.wustl.edu 37 15 89736512 89736513 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 15 89736512 89736513 - G INS ABHD2 ENST00000352732 human ensembl 69_37n +1 known frame_shift_ins c.1043_1044 p.H349fs 1.000:1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 56 0 0.00 54 35 39.33 - - - ABHD2 0 genome.wustl.edu 37 15 89736512 89736513 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 15 89736512 89736513 - G INS ABHD2 ENST00000352732 human ensembl 69_37n +1 known frame_shift_ins c.1043_1044 p.H349fs 1.000:1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 221 0 0.00 54 35 39.33 - - - ACAA1 0 genome.wustl.edu 37 3 38175453 38175453 + Nonsense_Mutation SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 3 38175453 38175453 G A SNP ACAA1 ENST00000333167 human ensembl 69_37n -1 known nonsense c.313 p.Q105* 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_ACP_syn_III_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA1 HGNC ENSG00000060971 42 0 0.00 21 5 19.23 - - - ADNP2 0 genome.wustl.edu 37 18 77895086 77895086 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 18 77895086 77895086 C G SNP ADNP2 ENST00000262198 human ensembl 69_37n +1 known missense c.1790 p.S597C 0.899 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 72 0 0.00 61 74 54.81 - - - ADNP2 0 genome.wustl.edu 37 18 77895086 77895086 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 18 77895086 77895086 C G SNP ADNP2 ENST00000262198 human ensembl 69_37n +1 known missense c.1790 p.S597C 0.899 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 78 0 0.00 61 74 54.81 - - - ALDH1L1 0 genome.wustl.edu 37 3 125877314 125877315 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 3 125877314 125877315 - G INS ALDH1L1 ENST00000393434 human ensembl 69_37n -1 known frame_shift_ins c.296_295 p.R99fs 0.003:0.088 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 49 0 0.00 25 3 10.71 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69416170 69416170 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 9 69416170 69416170 C G SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known missense c.1117 p.Q373E 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 100 1 0.99 111 19 14.62 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69421946 69421946 + Silent SNP T T C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 9 69421946 69421946 T C SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known silent c.1410 p.Y470 0.129 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 21 0 0.00 23 9 28.12 - - - ATG9B 0 genome.wustl.edu 37 7 150718359 150718359 + RNA SNP C C A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 7 150718359 150718359 C A SNP ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ATG9B HGNC ENSG00000181652 13 0 0.00 12 4 25.00 - - - ATG9B 0 genome.wustl.edu 37 7 150718359 150718359 + RNA SNP C C A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 7 150718359 150718359 C A SNP ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ATG9B HGNC ENSG00000181652 27 0 0.00 12 4 25.00 - - - BAZ2B 0 genome.wustl.edu 37 2 160317645 160317645 + RNA DEL T T - TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 2 160317645 160317645 T - DEL BAZ2B ENST00000483316 human ensembl 69_37n -1 known rna NULL NULL 0.155 - - - no_errors BAZ2B HGNC ENSG00000123636 15 0 0.00 15 3 16.67 - - - BDP1 0 genome.wustl.edu 37 5 70782424 70782424 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 5 70782424 70782424 A G SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.1183 p.K395E 0.991 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 34 0 0.00 45 7 13.46 - - - BDP1 0 genome.wustl.edu 37 5 70782424 70782424 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 5 70782424 70782424 A G SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.1183 p.K395E 0.991 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 165 0 0.00 141 16 10.19 - - - BDP1 0 genome.wustl.edu 37 5 70782424 70782424 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 5 70782424 70782424 A G SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.1183 p.K395E 0.991 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 106 0 0.00 141 16 10.19 - - - C10orf99 0 genome.wustl.edu 37 10 85944486 85944486 + Silent SNP C C A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 10 85944486 85944486 C A SNP C10orf99 ENST00000372126 human ensembl 69_37n +1 known silent c.210 p.R70 0.000 NULL NULL - no_errors C10orf99 HGNC ENSG00000188373 38 0 0.00 36 4 10.00 - - - C7orf53 0 genome.wustl.edu 37 7 112124979 112124979 + Silent SNP C C G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 7 112124979 112124979 C G SNP C7orf53 ENST00000312849 human ensembl 69_37n +1 known silent c.108 p.A36 0.000 NULL NULL - no_errors C7orf53 HGNC ENSG00000181016 19 0 0.00 41 10 19.61 - - - C7orf53 0 genome.wustl.edu 37 7 112124979 112124979 + Silent SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 7 112124979 112124979 C G SNP C7orf53 ENST00000312849 human ensembl 69_37n +1 known silent c.108 p.A36 0.000 NULL NULL - no_errors C7orf53 HGNC ENSG00000181016 158 0 0.00 176 53 23.14 - - - C7orf53 0 genome.wustl.edu 37 7 112124979 112124979 + Silent SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 7 112124979 112124979 C G SNP C7orf53 ENST00000312849 human ensembl 69_37n +1 known silent c.108 p.A36 0.000 NULL NULL - no_errors C7orf53 HGNC ENSG00000181016 188 0 0.00 176 53 23.14 - - - CCKBR 0 genome.wustl.edu 37 11 6291530 6291530 + Missense_Mutation SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 11 6291530 6291530 G A SNP CCKBR ENST00000525462 human ensembl 69_37n +1 known missense c.616 p.V206M 0.421 pfam_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors CCKBR HGNC ENSG00000110148 28 0 0.00 20 11 35.48 - - - CCKBR 0 genome.wustl.edu 37 11 6291530 6291530 + Missense_Mutation SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 11 6291530 6291530 G A SNP CCKBR ENST00000525462 human ensembl 69_37n +1 known missense c.616 p.V206M 0.421 pfam_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors CCKBR HGNC ENSG00000110148 99 0 0.00 62 35 35.71 - - - CCKBR 0 genome.wustl.edu 37 11 6291530 6291530 + Missense_Mutation SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 11 6291530 6291530 G A SNP CCKBR ENST00000525462 human ensembl 69_37n +1 known missense c.616 p.V206M 0.421 pfam_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors CCKBR HGNC ENSG00000110148 136 0 0.00 62 35 35.71 - - - CD163L1 0 genome.wustl.edu 37 12 7527952 7527952 + Missense_Mutation SNP G G T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 12 7527952 7527952 G T SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.2926 p.L976M 0.015 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 59 0 0.00 49 25 33.78 - - - CD163L1 0 genome.wustl.edu 37 12 7527952 7527952 + Missense_Mutation SNP G G T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 12 7527952 7527952 G T SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.2926 p.L976M 0.015 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 197 0 0.00 113 44 27.67 - - - CD163L1 0 genome.wustl.edu 37 12 7527952 7527952 + Missense_Mutation SNP G G T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 12 7527952 7527952 G T SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.2926 p.L976M 0.015 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 197 0 0.00 113 44 27.67 - - - CEACAM20 0 genome.wustl.edu 37 19 45010264 45010264 + RNA SNP C C G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 19 45010264 45010264 C G SNP CEACAM20 ENST00000412211 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 81 0 0.00 69 20 22.47 - - - CEACAM20 0 genome.wustl.edu 37 19 45010264 45010264 + RNA SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 19 45010264 45010264 C G SNP CEACAM20 ENST00000412211 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 34 0 0.00 55 13 19.12 - - - EHD1 0 genome.wustl.edu 37 11 64627723 64627723 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 11 64627723 64627723 G A SNP EHD1 ENST00000320631 human ensembl 69_37n -1 known silent c.588 p.I196 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 27 0 0.00 24 39 61.90 - - - EHD1 0 genome.wustl.edu 37 11 64627723 64627723 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 11 64627723 64627723 G A SNP EHD1 ENST00000320631 human ensembl 69_37n -1 known silent c.588 p.I196 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 36 0 0.00 24 39 61.90 - - - EMD 0 genome.wustl.edu 37 X 153609522 153609523 + Frame_Shift_Ins INS - - T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 X 153609522 153609523 - T INS EMD ENST00000369842 human ensembl 69_37n +1 known frame_shift_ins c.730_731 p.H244fs 0.519:0.441 NULL pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors EMD HGNC ENSG00000102119 12 0 0.00 9 4 30.77 - - - EMD 0 genome.wustl.edu 37 X 153609522 153609523 + Frame_Shift_Ins INS - - T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e X 153609522 153609523 - T INS EMD ENST00000369842 human ensembl 69_37n +1 known frame_shift_ins c.730_731 p.H244fs 0.519:0.441 NULL pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors EMD HGNC ENSG00000102119 20 0 0.00 9 4 30.77 - - - ESPNP 0 genome.wustl.edu 37 1 17023376 17023376 + RNA SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 1 17023376 17023376 C T SNP ESPNP ENST00000492551 human ensembl 69_37n -1 known rna NULL NULL 0.527 - - - no_errors ESPNP HGNC ENSG00000116219 95 0 0.00 1 4 80.00 - - - FAM123C 0 genome.wustl.edu 37 2 131519952 131519953 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 2 131519952 131519953 - G INS FAM123C ENST00000321420 human ensembl 69_37n +1 known frame_shift_ins c.307_308 p.A104fs 0.014:0.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC ENSG00000178171 15 0 0.00 2 3 60.00 - - - FAM123C 0 genome.wustl.edu 37 2 131519952 131519953 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 2 131519952 131519953 - G INS FAM123C ENST00000321420 human ensembl 69_37n +1 known frame_shift_ins c.307_308 p.A104fs 0.014:0.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC ENSG00000178171 9 0 0.00 2 3 60.00 - - - FAM22D 0 genome.wustl.edu 37 10 89124859 89124859 + Missense_Mutation SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 10 89124859 89124859 G A SNP FAM22D ENST00000381697 human ensembl 69_37n +1 known missense c.1417 p.G473S 0.001 NULL NULL - no_errors FAM22D HGNC ENSG00000214562 9 0 0.00 5 5 50.00 - - - FBN3 0 genome.wustl.edu 37 19 8130997 8130997 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 19 8130997 8130997 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.8236 p.E2746K 0.001 pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 29 0 0.00 19 30 61.22 - - - FBN3 0 genome.wustl.edu 37 19 8130997 8130997 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 19 8130997 8130997 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.8236 p.E2746K 0.001 pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 10 0 0.00 10 8 44.44 - - - FBN3 0 genome.wustl.edu 37 19 8130997 8130997 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 19 8130997 8130997 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.8236 p.E2746K 0.001 pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 37 0 0.00 10 8 44.44 - - - FLNA 0 genome.wustl.edu 37 X 153592940 153592941 + Frame_Shift_Del DEL AA AA - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 X 153592940 153592941 AA - DEL FLNA ENST00000369850 human ensembl 69_37n -1 known frame_shift_del c.1976_1975 p.F659fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 20 0 0.00 16 27 61.36 - - - FLNA 0 genome.wustl.edu 37 X 153592940 153592941 + Frame_Shift_Del DEL AA AA - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e X 153592940 153592941 AA - DEL FLNA ENST00000369850 human ensembl 69_37n -1 known frame_shift_del c.1976_1975 p.F659fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 25 0 0.00 16 27 61.36 - - - FLNA 0 genome.wustl.edu 37 X 153592945 153592946 + Frame_Shift_Del DEL GC GC - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 X 153592945 153592946 GC - DEL FLNA ENST00000369850 human ensembl 69_37n -1 known frame_shift_del c.1971_1970 p.S657fs 0.996:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 20 0 0.00 15 27 64.29 - - - FLNA 0 genome.wustl.edu 37 X 153592945 153592946 + Frame_Shift_Del DEL GC GC - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e X 153592945 153592946 GC - DEL FLNA ENST00000369850 human ensembl 69_37n -1 known frame_shift_del c.1971_1970 p.S657fs 0.996:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 24 0 0.00 15 27 64.29 - - - FOXD4L5 0 genome.wustl.edu 37 9 70177573 70177573 + Silent SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 9 70177573 70177573 G A SNP FOXD4L5 ENST00000377420 human ensembl 69_37n -1 known silent c.411 p.F137 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 56 0 0.00 43 13 23.21 - - - HEATR1 0 genome.wustl.edu 37 1 236715300 236715300 + Missense_Mutation SNP T T G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 1 236715300 236715300 T G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.6345 p.E2115D 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 39 0 0.00 66 10 13.16 - - - HEATR1 0 genome.wustl.edu 37 1 236715300 236715300 + Missense_Mutation SNP T T G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 1 236715300 236715300 T G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.6345 p.E2115D 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 287 0 0.00 336 65 16.17 - - - HEATR1 0 genome.wustl.edu 37 1 236715300 236715300 + Missense_Mutation SNP T T G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 1 236715300 236715300 T G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.6345 p.E2115D 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 238 0 0.00 336 65 16.17 - - - HFM1 0 genome.wustl.edu 37 1 91731572 91731572 + Splice_Site SNP G G T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 1 91731572 91731572 G T SNP HFM1 ENST00000370425 human ensembl 69_37n -1 known splice_site c.3974+2 e35+2 1.000 - - - no_errors HFM1 HGNC ENSG00000162669 57 0 0 34 5 12.82 - - - HIST1H2AH 0 genome.wustl.edu 37 6 27115267 27115267 + Silent SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 6 27115267 27115267 G A SNP HIST1H2AH ENST00000377459 human ensembl 69_37n +1 known silent c.360 p.K120 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 110 0 0.00 69 24 25.81 - - - HIST1H2AH 0 genome.wustl.edu 37 6 27115267 27115267 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 6 27115267 27115267 G A SNP HIST1H2AH ENST00000377459 human ensembl 69_37n +1 known silent c.360 p.K120 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 74 0 0.00 55 31 36.05 - - - HIST1H2AH 0 genome.wustl.edu 37 6 27115267 27115267 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 6 27115267 27115267 G A SNP HIST1H2AH ENST00000377459 human ensembl 69_37n +1 known silent c.360 p.K120 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 172 0 0.00 55 31 36.05 - - - HRNR 0 genome.wustl.edu 37 1 152188847 152188847 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 1 152188847 152188847 A G SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.5258 p.V1753A 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 25 0 0.00 50 11 18.03 - - - KDM2B 0 genome.wustl.edu 37 12 121880537 121880538 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 12 121880537 121880538 - G INS KDM2B ENST00000377071 human ensembl 69_37n -1 known frame_shift_ins c.2707_2706 p.K902fs 0.662:0.045 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 9 0 0.00 4 2 33.33 - - - KDM2B 0 genome.wustl.edu 37 12 121880537 121880538 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 12 121880537 121880538 - G INS KDM2B ENST00000377071 human ensembl 69_37n -1 known frame_shift_ins c.2707_2706 p.K902fs 0.662:0.045 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 9 0 0.00 4 2 33.33 - - - KIF24 0 genome.wustl.edu 37 9 34257474 34257475 + Frame_Shift_Ins INS - - C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 9 34257474 34257475 - C INS KIF24 ENST00000379166 human ensembl 69_37n -1 known frame_shift_ins c.2131_2130 p.P710fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 259 0 0.00 271 398 59.49 - - - KIF24 0 genome.wustl.edu 37 9 34257474 34257475 + Frame_Shift_Ins INS - - C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 9 34257474 34257475 - C INS KIF24 ENST00000379166 human ensembl 69_37n -1 known frame_shift_ins c.2131_2130 p.P710fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 271 0 0.00 271 398 59.49 - - - KLHL8 0 genome.wustl.edu 37 4 88106756 88106756 + Missense_Mutation SNP G G T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 4 88106756 88106756 G T SNP KLHL8 ENST00000273963 human ensembl 69_37n -1 known missense c.412 p.Q138K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 31 0 0.00 30 4 11.76 - - - KRT25 0 genome.wustl.edu 37 17 38907252 38907252 + Missense_Mutation SNP C C A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 17 38907252 38907252 C A SNP KRT25 ENST00000312150 human ensembl 69_37n -1 known missense c.911 p.R304L 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 163 0 0.00 225 25 10.00 - - - KRT25 0 genome.wustl.edu 37 17 38907252 38907252 + Missense_Mutation SNP C C A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 17 38907252 38907252 C A SNP KRT25 ENST00000312150 human ensembl 69_37n -1 known missense c.911 p.R304L 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 167 0 0.00 225 25 10.00 - - - LCE3D 0 genome.wustl.edu 37 1 152552176 152552176 + Silent SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 1 152552176 152552176 G A SNP LCE3D ENST00000368787 human ensembl 69_37n -1 known silent c.237 p.G79 0.026 NULL NULL - no_errors LCE3D HGNC ENSG00000163202 80 0 0.00 109 23 17.42 - - - LPIN3 0 genome.wustl.edu 37 20 39987407 39987407 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 20 39987407 39987407 G A SNP LPIN3 ENST00000373257 human ensembl 69_37n +1 known silent c.2457 p.V819 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 68 0 0.00 23 35 60.34 - - - LPIN3 0 genome.wustl.edu 37 20 39987407 39987407 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 20 39987407 39987407 G A SNP LPIN3 ENST00000373257 human ensembl 69_37n +1 known silent c.2457 p.V819 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 40 0 0.00 23 35 60.34 - - - LRRC14 0 genome.wustl.edu 37 8 145745252 145745252 + Missense_Mutation SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 8 145745252 145745252 G A SNP LRRC14 ENST00000292524 human ensembl 69_37n +1 known missense c.143 p.R48H 0.138 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 102 0 0.00 50 19 27.54 - - - MAP3K1 0 genome.wustl.edu 37 5 56167801 56167802 + Frame_Shift_Ins INS - - T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 5 56167801 56167802 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.1366_1367 p.T457fs 0.999:0.992 pfscan_Znf_RING pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 17 0 0.00 20 10 33.33 - - - MAP3K1 0 genome.wustl.edu 37 5 56167801 56167802 + Frame_Shift_Ins INS - - T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 5 56167801 56167802 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.1366_1367 p.T457fs 0.999:0.992 pfscan_Znf_RING pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 149 0 0.00 124 80 39.22 - - - MAP3K1 0 genome.wustl.edu 37 5 56167801 56167802 + Frame_Shift_Ins INS - - T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 5 56167801 56167802 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.1366_1367 p.T457fs 0.999:0.992 pfscan_Znf_RING pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 118 0 0.00 124 80 39.22 - - - MAP3K1 0 genome.wustl.edu 37 5 56174851 56174852 + Frame_Shift_Ins INS - - GC TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 5 56174851 56174852 - GC INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.2010_2011 p.E671fs 0.964:1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 21 0 0.00 29 11 27.50 - - - MAP3K1 0 genome.wustl.edu 37 5 56174851 56174852 + Frame_Shift_Ins INS - - GC TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 5 56174851 56174852 - GC INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.2010_2011 p.E671fs 0.964:1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 187 0 0.00 296 63 17.55 - - - MAP3K1 0 genome.wustl.edu 37 5 56174851 56174852 + Frame_Shift_Ins INS - - GC TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 5 56174851 56174852 - GC INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.2010_2011 p.E671fs 0.964:1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 430 0 0.00 296 63 17.55 - - - MC1R 0 genome.wustl.edu 37 16 89981358 89981358 + RNA SNP T T C TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 16 89981358 89981358 T C SNP MC1R ENST00000539976 human ensembl 69_37n +1 known rna NULL NULL 0.998 - - - no_errors MC1R HGNC ENSG00000258839 69 0 0.00 35 4 10.26 - - - MUC19 0 genome.wustl.edu 37 12 40791680 40791680 + Splice_Site SNP G G T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 12 40791680 40791680 G T SNP MUC19 ENST00000454784 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.910 - - - no_errors MUC19 HGNC ENSG00000205592 22 0 0.00 14 4 22.22 - - - MUC20 0 genome.wustl.edu 37 3 195346312 195346312 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 3 195346312 195346312 C T SNP MUC20 ENST00000381954 human ensembl 69_37n +1 known missense c.614 p.P205L 0.132 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 82 0 0.00 75 10 11.76 - - - NGEF 0 genome.wustl.edu 37 2 233839577 233839577 + Silent SNP A A G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 2 233839577 233839577 A G SNP NGEF ENST00000264051 human ensembl 69_37n -1 known silent c.24 p.D8 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 41 0 0.00 32 9 21.95 - - - NGEF 0 genome.wustl.edu 37 2 233839577 233839577 + Silent SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 2 233839577 233839577 A G SNP NGEF ENST00000264051 human ensembl 69_37n -1 known silent c.24 p.D8 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 67 0 0.00 70 26 27.08 - - - NGEF 0 genome.wustl.edu 37 2 233839577 233839577 + Silent SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 2 233839577 233839577 A G SNP NGEF ENST00000264051 human ensembl 69_37n -1 known silent c.24 p.D8 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 171 0 0.00 70 26 27.08 - - - NOL6 0 genome.wustl.edu 37 9 33469529 33469530 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 9 33469529 33469530 - G INS NOL6 ENST00000297990 human ensembl 69_37n -1 known frame_shift_ins c.695_694 p.H232fs 1.000:1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 75 0 0.00 60 103 63.19 - - - NOL6 0 genome.wustl.edu 37 9 33469529 33469530 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 9 33469529 33469530 - G INS NOL6 ENST00000297990 human ensembl 69_37n -1 known frame_shift_ins c.695_694 p.H232fs 1.000:1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 55 0 0.00 60 103 63.19 - - - NUDT11 0 genome.wustl.edu 37 X 51238952 51238952 + Silent SNP C C T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 X 51238952 51238952 C T SNP NUDT11 ENST00000375992 human ensembl 69_37n -1 known silent c.345 p.R115 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT11 HGNC ENSG00000196368 67 0 0.00 57 34 37.36 - - - NUDT11 0 genome.wustl.edu 37 X 51238952 51238952 + Silent SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 X 51238952 51238952 C T SNP NUDT11 ENST00000375992 human ensembl 69_37n -1 known silent c.345 p.R115 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT11 HGNC ENSG00000196368 77 0 0.00 52 16 23.53 - - - NUDT11 0 genome.wustl.edu 37 X 51238952 51238952 + Silent SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e X 51238952 51238952 C T SNP NUDT11 ENST00000375992 human ensembl 69_37n -1 known silent c.345 p.R115 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT11 HGNC ENSG00000196368 66 0 0.00 52 16 23.53 - - - NUDT6 0 genome.wustl.edu 37 4 123814028 123814028 + Silent SNP A A G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 4 123814028 123814028 A G SNP NUDT6 ENST00000304430 human ensembl 69_37n -1 known silent c.906 p.H302 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 22 0 0.00 32 15 31.91 - - - NUDT6 0 genome.wustl.edu 37 4 123814028 123814028 + Silent SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 4 123814028 123814028 A G SNP NUDT6 ENST00000304430 human ensembl 69_37n -1 known silent c.906 p.H302 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 138 0 0.00 93 33 26.19 - - - NUDT6 0 genome.wustl.edu 37 4 123814028 123814028 + Silent SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 4 123814028 123814028 A G SNP NUDT6 ENST00000304430 human ensembl 69_37n -1 known silent c.906 p.H302 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 126 1 0.79 93 33 26.19 - - - PAM 0 genome.wustl.edu 37 5 102201820 102201820 + RNA SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 5 102201820 102201820 G A SNP PAM ENST00000509523 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors PAM HGNC ENSG00000145730 13 0 0.00 6 4 40.00 - - - PDHA1 0 genome.wustl.edu 37 X 19362212 19362212 + Silent SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 X 19362212 19362212 G A SNP PDHA1 ENST00000379806 human ensembl 69_37n +1 known silent c.57 p.P19 1.000 NULL pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA1 HGNC ENSG00000131828 22 0 0.00 10 9 47.37 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 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 19 0 0.00 20 10 33.33 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 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 141 0 0.00 178 142 44.38 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 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 337 1 0.30 178 142 44.38 - - - PPP2R5B 0 genome.wustl.edu 37 11 64695596 64695596 + Frame_Shift_Del DEL C C - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 11 64695596 64695596 C - DEL PPP2R5B ENST00000164133 human ensembl 69_37n +1 known frame_shift_del c.557 p.K187fs 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 53 0 0.00 27 34 53.12 - - - PPP2R5B 0 genome.wustl.edu 37 11 64695596 64695596 + Frame_Shift_Del DEL C C - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 11 64695596 64695596 C - DEL PPP2R5B ENST00000164133 human ensembl 69_37n +1 known frame_shift_del c.557 p.K187fs 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 66 0 0.00 27 34 53.12 - - - RAD54L2 0 genome.wustl.edu 37 3 51697422 51697423 + Frame_Shift_Del DEL GT GT - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 3 51697422 51697423 GT - DEL RAD54L2 ENST00000409535 human ensembl 69_37n +1 known frame_shift_del c.4390_4391 p.V1464fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 28 0 0.00 56 112 64.37 - - - RAD54L2 0 genome.wustl.edu 37 3 51697422 51697423 + Frame_Shift_Del DEL GT GT - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 3 51697422 51697423 GT - DEL RAD54L2 ENST00000409535 human ensembl 69_37n +1 known frame_shift_del c.4390_4391 p.V1464fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 126 0 0.00 56 112 64.37 - - - RGL2 0 genome.wustl.edu 37 6 33263964 33263965 + Frame_Shift_Ins INS - - C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 6 33263964 33263965 - C INS RGL2 ENST00000497454 human ensembl 69_37n -1 known frame_shift_ins c.609_608 p.S204fs 1.000:1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 47 0 0.00 40 5 11.11 - - - SCN11A 0 genome.wustl.edu 37 3 38991614 38991615 + Frame_Shift_Ins INS - - C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 3 38991614 38991615 - C INS SCN11A ENST00000302328 human ensembl 69_37n -1 known frame_shift_ins c.240_239 p.D80fs 0.985:1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 34 0 0.00 32 4 11.11 - - - SCN11A 0 genome.wustl.edu 37 3 38991614 38991615 + Frame_Shift_Ins INS - - C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 3 38991614 38991615 - C INS SCN11A ENST00000302328 human ensembl 69_37n -1 known frame_shift_ins c.240_239 p.D80fs 0.985:1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 37 0 0.00 32 4 11.11 - - - SCN2A 0 genome.wustl.edu 37 2 166245948 166245948 + Missense_Mutation SNP C C A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 2 166245948 166245948 C A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.5632 p.Q1878K 1.000 NULL 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 23 0 0.00 30 6 16.67 - - - SCN2A 0 genome.wustl.edu 37 2 166245948 166245948 + Missense_Mutation SNP C C A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 2 166245948 166245948 C A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.5632 p.Q1878K 1.000 NULL 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 286 0 0.00 216 68 23.94 - - - SCN2A 0 genome.wustl.edu 37 2 166245948 166245948 + Missense_Mutation SNP C C A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 2 166245948 166245948 C A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.5632 p.Q1878K 1.000 NULL 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 265 0 0.00 216 68 23.94 - - - SLC9A2 0 genome.wustl.edu 37 2 103300760 103300760 + Missense_Mutation SNP G G T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 2 103300760 103300760 G T SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known missense c.1390 p.A464S 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 114 0 0.00 95 21 18.10 - - - SNX18 0 genome.wustl.edu 37 5 53815319 53815320 + Frame_Shift_Del DEL CA CA - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 5 53815319 53815320 CA - DEL SNX18 ENST00000326277 human ensembl 69_37n +1 known frame_shift_del c.1537_1538 p.Q513fs 1.000:1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 69 0 0.00 30 26 45.61 - - - SNX18 0 genome.wustl.edu 37 5 53815319 53815320 + Frame_Shift_Del DEL CA CA - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 5 53815319 53815320 CA - DEL SNX18 ENST00000326277 human ensembl 69_37n +1 known frame_shift_del c.1537_1538 p.Q513fs 1.000:1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 27 0 0.00 30 26 45.61 - - - SOGA2 0 genome.wustl.edu 37 18 8824722 8824722 + Missense_Mutation SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 18 8824722 8824722 G A SNP SOGA2 ENST00000359865 human ensembl 69_37n +1 known missense c.3214 p.E1072K 1.000 NULL pfam_DUF3166 - no_errors SOGA2 HGNC ENSG00000168502 77 0 0.00 56 11 16.18 - - - SPTA1 0 genome.wustl.edu 37 1 158608014 158608014 + Silent SNP C C T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 1 158608014 158608014 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known silent c.4998 p.L1666 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 37 0 0.00 31 4 11.43 - - - SRSF5 0 genome.wustl.edu 37 14 70238145 70238145 + Silent SNP A A T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 14 70238145 70238145 A T SNP SRSF5 ENST00000394366 human ensembl 69_37n +1 novel silent c.786 p.R262 0.989 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 146 0 0.00 241 36 13.00 - - - SRSF5 0 genome.wustl.edu 37 14 70238145 70238145 + Silent SNP A A T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 14 70238145 70238145 A T SNP SRSF5 ENST00000394366 human ensembl 69_37n +1 novel silent c.786 p.R262 0.989 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 273 1 0.36 241 36 13.00 - - - SYNE2 0 genome.wustl.edu 37 14 64447873 64447873 + Missense_Mutation SNP G G C TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 14 64447873 64447873 G C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.1818 p.K606N 0.871 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 24 0 0.00 32 4 11.11 - - - SYNE2 0 genome.wustl.edu 37 14 64580096 64580096 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 14 64580096 64580096 C G SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.12647 p.S4216C 0.856 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 52 0 0.00 32 18 36.00 - - - SYNE2 0 genome.wustl.edu 37 14 64580096 64580096 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 14 64580096 64580096 C G SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.12647 p.S4216C 0.856 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 43 0 0.00 54 13 19.40 - - - SYNE2 0 genome.wustl.edu 37 14 64580096 64580096 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 14 64580096 64580096 C G SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.12647 p.S4216C 0.856 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 81 0 0.00 54 13 19.40 - - - TANC2 0 genome.wustl.edu 37 17 61315386 61315386 + Missense_Mutation SNP A A G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 17 61315386 61315386 A G SNP TANC2 ENST00000583356 human ensembl 69_37n +1 putative missense c.545 p.N182S 0.387 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TANC2 HGNC ENSG00000170921 73 0 0.00 76 12 13.64 - - - THEM5 0 genome.wustl.edu 37 1 151819728 151819728 + Frame_Shift_Del DEL A A - TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 1 151819728 151819728 A - DEL THEM5 ENST00000453881 human ensembl 69_37n -1 known frame_shift_del c.651 p.P218fs 0.690 NULL pfam_Thioestr_supf - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region THEM5 HGNC ENSG00000196407 33 0 0.00 33 4 10.81 - - - TMEM189-UBE2V1 0 genome.wustl.edu 37 20 48700722 48700722 + Missense_Mutation SNP A A C TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 20 48700722 48700722 A C SNP TMEM189-UBE2V1 ENST00000341698 human ensembl 69_37n -1 known missense c.910 p.F304V 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors TMEM189-UBE2V1 HGNC ENSG00000124208 35 0 0.00 23 22 48.89 - - - TMEM189-UBE2V1 0 genome.wustl.edu 37 20 48700722 48700722 + Missense_Mutation SNP A A C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 20 48700722 48700722 A C SNP TMEM189-UBE2V1 ENST00000341698 human ensembl 69_37n -1 known missense c.910 p.F304V 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors TMEM189-UBE2V1 HGNC ENSG00000124208 333 1 0.30 425 264 37.66 - - - TMEM189-UBE2V1 0 genome.wustl.edu 37 20 48700722 48700722 + Missense_Mutation SNP A A C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 20 48700722 48700722 A C SNP TMEM189-UBE2V1 ENST00000341698 human ensembl 69_37n -1 known missense c.910 p.F304V 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors TMEM189-UBE2V1 HGNC ENSG00000124208 883 2 0.22 425 264 37.66 - - - TTYH2 0 genome.wustl.edu 37 17 72218622 72218622 + Splice_Site DEL A A - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 17 72218622 72218622 A 0 DEL TTYH2 ENST00000269346 human ensembl 69_37n +1 known splice_site_del c.130-2 e2-2 1.000 - - - no_errors TTYH2 HGNC ENSG00000141540 78 0 0 18 2 10 - - - UNC93B1 0 genome.wustl.edu 37 11 67759196 67759196 + Missense_Mutation SNP A A C TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 11 67759196 67759196 A C SNP UNC93B1 ENST00000227471 human ensembl 69_37n -1 known missense c.1612 p.Y538D 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 19 0 0.00 4 5 55.56 - - - USHBP1 0 genome.wustl.edu 37 19 17362429 17362429 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 19 17362429 17362429 C G SNP USHBP1 ENST00000252597 human ensembl 69_37n -1 known missense c.1884 p.Q628H 0.925 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 45 0 0.00 35 6 14.63 - - - WNK1 0 genome.wustl.edu 37 12 996462 996462 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 12 996462 996462 C G SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known missense c.6850 p.L2284V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 126 0 0.00 76 17 18.28 - - - WNT5B 0 genome.wustl.edu 37 12 1740546 1740546 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 12 1740546 1740546 C T SNP WNT5B ENST00000310594 human ensembl 69_37n +1 known missense c.26 p.T9M 0.092 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 58 0 0.00 42 20 32.26 - - - WNT5B 0 genome.wustl.edu 37 12 1740546 1740546 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 12 1740546 1740546 C T SNP WNT5B ENST00000310594 human ensembl 69_37n +1 known missense c.26 p.T9M 0.092 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 73 0 0.00 61 13 17.57 - - - WNT5B 0 genome.wustl.edu 37 12 1740546 1740546 + Missense_Mutation SNP C C T TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 12 1740546 1740546 C T SNP WNT5B ENST00000310594 human ensembl 69_37n +1 known missense c.26 p.T9M 0.092 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 107 0 0.00 61 13 17.57 - - - YLPM1 0 genome.wustl.edu 37 14 75230470 75230471 + Frame_Shift_Ins INS - - G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 14 75230470 75230471 - G INS YLPM1 ENST00000325680 human ensembl 69_37n +1 known frame_shift_ins c.278_279 p.G96fs 1.000:0.840 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 36 0 0.00 20 3 13.04 - - - YLPM1 0 genome.wustl.edu 37 14 75283664 75283664 + Missense_Mutation SNP G G C TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 14 75283664 75283664 G C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.5716 p.E1906Q 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 48 0 0.00 53 8 13.11 - - - ZDHHC11B 0 genome.wustl.edu 37 5 745306 745306 + Missense_Mutation SNP A A C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 5 745306 745306 A C SNP ZDHHC11B ENST00000382776 human ensembl 69_37n -1 known missense c.892 p.F298V 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 188 1 0.53 65 9 12.16 - - - ZKSCAN1 0 genome.wustl.edu 37 7 99621381 99621381 + Nonsense_Mutation SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 7 99621381 99621381 G A SNP ZKSCAN1 ENST00000324306 human ensembl 69_37n +1 known nonsense c.252 p.W84* 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 134 0 0.00 116 106 47.75 - - - ZKSCAN1 0 genome.wustl.edu 37 7 99621381 99621381 + Nonsense_Mutation SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 7 99621381 99621381 G A SNP ZKSCAN1 ENST00000324306 human ensembl 69_37n +1 known nonsense c.252 p.W84* 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 191 0 0.00 116 106 47.75 - - - ZNF432 0 genome.wustl.edu 37 19 52537525 52537525 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 19 52537525 52537525 C G SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known missense c.1407 p.K469N 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 77 0 0.00 74 9 10.84 - - - ZNF432 0 genome.wustl.edu 37 19 52537525 52537525 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 19 52537525 52537525 C G SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known missense c.1407 p.K469N 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 255 0 0.00 252 41 13.95 - - - ZNF432 0 genome.wustl.edu 37 19 52537525 52537525 + Missense_Mutation SNP C C G TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 19 52537525 52537525 C G SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known missense c.1407 p.K469N 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 368 0 0.00 252 41 13.95 - - - ZNF506 0 genome.wustl.edu 37 19 19906463 19906463 + Missense_Mutation SNP T T C TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 19 19906463 19906463 T C SNP ZNF506 ENST00000443905 human ensembl 69_37n -1 known missense c.233 p.Y78C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 76 0 0.00 86 25 22.52 - - - ZNF506 0 genome.wustl.edu 37 19 19906463 19906463 + Missense_Mutation SNP T T C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 19 19906463 19906463 T C SNP ZNF506 ENST00000443905 human ensembl 69_37n -1 known missense c.233 p.Y78C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 115 0 0.00 187 65 25.79 - - - ZNF506 0 genome.wustl.edu 37 19 19906463 19906463 + Missense_Mutation SNP T T C TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 19 19906463 19906463 T C SNP ZNF506 ENST00000443905 human ensembl 69_37n -1 known missense c.233 p.Y78C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 245 1 0.41 187 65 25.79 - - - ZNF558 0 genome.wustl.edu 37 19 8923882 8923882 + Frame_Shift_Del DEL T T - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 19 8923882 8923882 T - DEL ZNF558 ENST00000301475 human ensembl 69_37n -1 known frame_shift_del c.264 p.K88fs 0.956 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ENSG00000167785 13 0 0.00 18 9 33.33 - - - ZNF558 0 genome.wustl.edu 37 19 8923882 8923882 + Frame_Shift_Del DEL T T - TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 19 8923882 8923882 T - DEL ZNF558 ENST00000301475 human ensembl 69_37n -1 known frame_shift_del c.264 p.K88fs 0.956 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ENSG00000167785 21 0 0.00 18 9 33.33 - - - ZNF749 0 genome.wustl.edu 37 19 57956493 57956493 + Silent SNP G G A TCGA-A7-A0DB-01A-11D-A272-09 TCGA-A7-A0DB-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a0fd4e0e-e23b-46f0-a8d9-17d3c0235cf1 b9e04a17-821c-4e9f-a161-459e74727817 19 57956493 57956493 G A SNP ZNF749 ENST00000334181 human ensembl 69_37n +1 known silent c.1977 p.Q659 0.020 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 16 0 0.00 27 10 27.03 - - - ZNF749 0 genome.wustl.edu 37 19 57956493 57956493 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 3e6c153e-7921-4d16-8d7e-157736e3aa65 19 57956493 57956493 G A SNP ZNF749 ENST00000334181 human ensembl 69_37n +1 known silent c.1977 p.Q659 0.020 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 559 0 0.00 369 94 20.22 - - - ZNF749 0 genome.wustl.edu 37 19 57956493 57956493 + Silent SNP G G A TCGA-A7-A0DB-01A-11W-A019-09 TCGA-A7-A0DB-11A-33W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eb61fb8b-1b5b-4cfd-a979-cf9e25481ae2 edde29ab-1a7a-4be0-870c-e4256460754e 19 57956493 57956493 G A SNP ZNF749 ENST00000334181 human ensembl 69_37n +1 known silent c.1977 p.Q659 0.020 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 323 0 0.00 369 94 20.22 - - -