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 AASDHPPT 0 genome.wustl.edu 37 11 105948531 105948531 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 105948531 105948531 G A SNP AASDHPPT ENST00000278618 human ensembl 69_37n +1 known missense c.94 p.E32K 1.000 superfamily_4-PPantetheinyl_Trfase pfam_4-PPantetheinyl_Trfase,superfamily_4-PPantetheinyl_Trfase - no_errors AASDHPPT HGNC ENSG00000149313 72 0 0.00 111 37 25.00 - - - ADM2 0 genome.wustl.edu 37 22 50921701 50921701 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 22 50921701 50921701 G A SNP ADM2 ENST00000362068 human ensembl 69_37n +1 known missense c.566 p.R189K 0.000 NULL NULL - no_errors ADM2 HGNC ENSG00000128165 11 0 0.00 30 14 31.82 - - - ADPRHL1 0 genome.wustl.edu 37 13 114079385 114079385 + Missense_Mutation SNP A A T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 13 114079385 114079385 A T SNP ADPRHL1 ENST00000375418 human ensembl 69_37n -1 known missense c.756 p.D252E 0.941 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 57 0 0.00 81 20 19.80 - - - AHNAK 0 genome.wustl.edu 37 11 62295895 62295895 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 62295895 62295895 C T SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.5994 p.L1998 0.557 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 100 0 0.00 133 31 18.90 - - - ANGPT4 0 genome.wustl.edu 37 20 858903 858903 + Missense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 20 858903 858903 G T SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.1121 p.A374E 0.002 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 13 0 0.00 32 10 23.81 - - - ANXA3 0 genome.wustl.edu 37 4 79516556 79516556 + Missense_Mutation SNP A A G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 79516556 79516556 A G SNP ANXA3 ENST00000264908 human ensembl 69_37n +1 known missense c.505 p.K169E 0.998 superfamily_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC ENSG00000138772 84 0 0.00 101 21 17.21 - - - ARHGAP10 0 genome.wustl.edu 37 4 148787878 148787878 + Nonsense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 148787878 148787878 C T SNP ARHGAP10 ENST00000336498 human ensembl 69_37n +1 known nonsense c.613 p.Q205* 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 76 0 0.00 97 25 20.49 - - - ARHGAP25 0 genome.wustl.edu 37 2 69034573 69034573 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 69034573 69034573 G C SNP ARHGAP25 ENST00000409202 human ensembl 69_37n +1 known missense c.635 p.R212T 0.979 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 33 0 0.00 48 9 15.79 - - - ARMC5 0 genome.wustl.edu 37 16 31473745 31473745 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 31473745 31473745 C G SNP ARMC5 ENST00000408912 human ensembl 69_37n +1 known missense c.1162 p.P388A 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 13 0 0.00 56 12 17.65 - - - ASB13 0 genome.wustl.edu 37 10 5683789 5683789 + Missense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 10 5683789 5683789 G T SNP ASB13 ENST00000357700 human ensembl 69_37n -1 known missense c.653 p.P218Q 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB13 HGNC ENSG00000196372 27 0 0.00 39 11 22.00 - - - BAP1 0 genome.wustl.edu 37 3 52437465 52437465 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 52437465 52437465 C T SNP BAP1 ENST00000460680 human ensembl 69_37n -1 known missense c.1696 p.E566K 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 16 0 0.00 38 9 19.15 - - - BTN3A3 0 genome.wustl.edu 37 6 26452095 26452095 + Missense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 26452095 26452095 G T SNP BTN3A3 ENST00000244519 human ensembl 69_37n +1 known missense c.1211 p.R404I 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 63 0 0.00 71 13 15.48 - - - C15orf23 0 genome.wustl.edu 37 15 40683726 40683726 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 40683726 40683726 G A SNP C15orf23 ENST00000249776 human ensembl 69_37n +1 known missense c.718 p.E240K 0.044 NULL NULL - no_errors C15orf23 HGNC ENSG00000128944 49 0 0.00 57 15 20.83 - - - C15orf29 0 genome.wustl.edu 37 15 34455763 34455763 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 34455763 34455763 C T SNP C15orf29 ENST00000256544 human ensembl 69_37n -1 known missense c.115 p.E39K 1.000 NULL NULL - no_errors C15orf29 HGNC ENSG00000134152 72 0 0.00 56 16 22.22 - - - C3orf15 0 genome.wustl.edu 37 3 119462918 119462918 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 119462918 119462918 G A SNP C3orf15 ENST00000273390 human ensembl 69_37n +1 known missense c.1777 p.E593K 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors C3orf15 HGNC ENSG00000183833 30 0 0.00 48 10 17.24 - - - CA14 0 genome.wustl.edu 37 1 150233919 150233919 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 150233919 150233919 G A SNP CA14 ENST00000369111 human ensembl 69_37n +1 known silent c.138 p.S46 0.794 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 27 0 0.00 38 28 41.79 - - - CAPN12 0 genome.wustl.edu 37 19 39221790 39221790 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 39221790 39221790 G A SNP CAPN12 ENST00000328867 human ensembl 69_37n -1 known silent c.2031 p.F677 0.509 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 34 0 0.00 48 17 26.15 - - - CASKIN1 0 genome.wustl.edu 37 16 2229628 2229628 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 2229628 2229628 G A SNP CASKIN1 ENST00000343516 human ensembl 69_37n -1 known silent c.3741 p.S1247 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 9 0 0.00 5 7 58.33 - - - CCT6P3 0 genome.wustl.edu 37 7 64531401 64531401 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 64531401 64531401 C T SNP CCT6P3 ENST00000426828 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 49 0 0.00 57 14 19.72 - - - CDH1 0 genome.wustl.edu 37 16 68846048 68846049 + Frame_Shift_Ins INS - - G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 68846048 68846049 - G INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.1019_1020 p.Y341fs 0.000:0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 81 0 0.00 76 24 24.00 - - - CDH17 0 genome.wustl.edu 37 8 95172318 95172318 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 8 95172318 95172318 C T SNP CDH17 ENST00000027335 human ensembl 69_37n -1 known missense c.1432 p.D478N 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH17 HGNC ENSG00000079112 44 0 0.00 83 20 19.42 - - - CDK11A 0 genome.wustl.edu 37 1 1635286 1635286 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 1635286 1635286 C T SNP CDK11A ENST00000404249 human ensembl 69_37n -1 known missense c.1888 p.D630N 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_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11A HGNC ENSG00000008128 103 1 0.96 146 31 17.51 - - - CELSR3 0 genome.wustl.edu 37 3 48696551 48696551 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 48696551 48696551 G C SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known missense c.3517 p.Q1173E 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 21 0 0.00 30 11 26.83 - - - COPB2 0 genome.wustl.edu 37 3 139092649 139092649 + Silent SNP T T C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 139092649 139092649 T C SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known silent c.753 p.G251 0.938 pirsf_Coatomer_b'su,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 22 0 0.00 25 6 19.35 - - - CORO2B 0 genome.wustl.edu 37 15 69004035 69004035 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 69004035 69004035 G A SNP CORO2B ENST00000566799 human ensembl 69_37n +1 known missense c.638 p.R213H 0.939 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 16 0 0.00 43 9 17.31 - - - CPN2 0 genome.wustl.edu 37 3 194062061 194062061 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 194062061 194062061 C T SNP CPN2 ENST00000323830 human ensembl 69_37n -1 known silent c.1371 p.T457 0.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 27 0 0.00 51 11 17.74 - - - CSF3 0 genome.wustl.edu 37 17 38172018 38172018 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 38172018 38172018 C G SNP CSF3 ENST00000225474 human ensembl 69_37n +1 known missense c.115 p.L39V 0.491 superfamily_4_helix_cytokine-like_core,pirsf_IL6_MGF_GCSF pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_IL6_MGF_GCSF - no_errors CSF3 HGNC ENSG00000108342 26 0 0.00 21 6 22.22 - - - CYFIP1 0 genome.wustl.edu 37 15 22933648 22933648 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 22933648 22933648 G A SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known silent c.657 p.K219 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 43 0 0.00 39 8 17.02 - - - DLG2 0 genome.wustl.edu 37 11 83984229 83984229 + Nonsense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 83984229 83984229 G A SNP DLG2 ENST00000418306 human ensembl 69_37n -1 known nonsense c.70 p.Q24* 1.000 superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_Guanylate_kin,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC ENSG00000150672 36 0 0.00 44 7 13.73 - - - DUSP27 0 genome.wustl.edu 37 1 167096565 167096565 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 167096565 167096565 G A SNP DUSP27 ENST00000271385 human ensembl 69_37n +1 known missense c.2197 p.E733K 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 25 0 0.00 49 14 22.22 - - - EEF2 0 genome.wustl.edu 37 19 3982831 3982831 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 3982831 3982831 C T SNP EEF2 ENST00000309311 human ensembl 69_37n -1 known missense c.586 p.E196K 1.000 pfam_ProtSyn_GTP-bd pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 34 0 0.00 44 13 22.41 - - - EFCAB3 0 genome.wustl.edu 37 17 60451215 60451215 + Silent SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 60451215 60451215 G T SNP EFCAB3 ENST00000450662 human ensembl 69_37n +1 known silent c.75 p.L25 1.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB3 HGNC ENSG00000172421 62 0 0.00 43 6 12.24 - - - EIF3A 0 genome.wustl.edu 37 10 120801560 120801560 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 10 120801560 120801560 G C SNP EIF3A ENST00000369144 human ensembl 69_37n -1 known missense c.3472 p.P1158A 0.969 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 30 0 0.00 50 17 25.37 - - - ERBB2 0 genome.wustl.edu 37 17 37868193 37868193 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 37868193 37868193 C G SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.914 p.S305C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 43 0 0.00 60 30 33.33 - - - ERBB2 0 genome.wustl.edu 37 17 37868682 37868682 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 37868682 37868682 C T SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known silent c.1129 p.L377 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 23 0 0.00 27 5 15.62 - - - FAM123B 0 genome.wustl.edu 37 X 63410388 63410388 + Missense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 63410388 63410388 C A SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.2779 p.D927Y 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 59 0 0.00 74 11 12.94 - - - FAM127A 0 genome.wustl.edu 37 X 134167088 134167088 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 134167088 134167088 C T SNP FAM127A ENST00000495563 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM127A HGNC ENSG00000134590 37 0 0.00 76 9 10.59 - - - FAM59A 0 genome.wustl.edu 37 18 29890260 29890260 + Nonsense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 18 29890260 29890260 G A SNP FAM59A ENST00000269209 human ensembl 69_37n -1 known nonsense c.289 p.R97* 1.000 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 46 0 0.00 53 19 26.39 - - - FAM65C 0 genome.wustl.edu 37 20 49225878 49225878 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 20 49225878 49225878 C T SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.592 p.E198K 1.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 29 0 0.00 46 9 16.36 - - - FANCD2 0 genome.wustl.edu 37 3 10089628 10089628 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 10089628 10089628 C T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known silent c.1306 p.L436 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 101 0 0.00 126 15 10.64 - - - FBN1 0 genome.wustl.edu 37 15 48829850 48829850 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 48829850 48829850 G A SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.694 p.R232C 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 16 0 0.00 17 8 32.00 - - - FBXO5 0 genome.wustl.edu 37 6 153292185 153292185 + RNA SNP T T C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 153292185 153292185 T C SNP FBXO5 ENST00000477822 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors FBXO5 HGNC ENSG00000112029 14 0 0.00 9 6 40.00 - - - FBXO7 0 genome.wustl.edu 37 22 32891506 32891506 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 22 32891506 32891506 G C SNP FBXO7 ENST00000266087 human ensembl 69_37n +1 known missense c.1171 p.D391H 1.000 superfamily_F-box_dom_cyclin-like pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO7 HGNC ENSG00000100225 19 0 0.00 26 8 23.53 - - - FGG 0 genome.wustl.edu 37 4 155531295 155531295 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 155531295 155531295 C T SNP FGG ENST00000336098 human ensembl 69_37n -1 known silent c.456 p.E152 0.996 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGG HGNC ENSG00000171557 56 0 0.00 71 13 15.48 - - - FH 0 genome.wustl.edu 37 1 241675380 241675380 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 241675380 241675380 G C SNP FH ENST00000366560 human ensembl 69_37n -1 known missense c.442 p.Q148E 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII - no_errors FH HGNC ENSG00000091483 61 0 0.00 52 8 13.33 - - - FLJ33534 0 genome.wustl.edu 37 2 11264529 11264529 + RNA SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 11264529 11264529 C G SNP FLJ33534 ENST00000447433 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors AC062028.1 Clone_based_vega_gene ENSG00000145063 9 0 0.00 6 4 40.00 - - - FMO3 0 genome.wustl.edu 37 1 171083178 171083178 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 171083178 171083178 G A SNP FMO3 ENST00000367755 human ensembl 69_37n +1 known missense c.859 p.E287K 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 51 0 0.00 77 20 20.62 - - - FREM2 0 genome.wustl.edu 37 13 39264059 39264059 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 13 39264059 39264059 G A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.2578 p.D860N 0.834 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 33 0 0.00 59 15 20.27 - - - GOLGA1 0 genome.wustl.edu 37 9 127684133 127684133 + Missense_Mutation SNP T T A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 127684133 127684133 T A SNP GOLGA1 ENST00000373555 human ensembl 69_37n -1 known missense c.600 p.Q200H 0.998 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 42 0 0.00 49 19 27.94 - - - GPATCH4 0 genome.wustl.edu 37 1 156565376 156565376 + Nonsense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 156565376 156565376 G A SNP GPATCH4 ENST00000438976 human ensembl 69_37n -1 known nonsense c.757 p.Q253* 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 84 0 0.00 125 30 19.23 - - - GPR162 0 genome.wustl.edu 37 12 6935488 6935488 + Missense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 6935488 6935488 C A SNP GPR162 ENST00000311268 human ensembl 69_37n +1 known missense c.1185 p.F395L 0.983 prints_GPCR_162 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_162,prints_GPCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 39 0 0.00 58 8 12.12 - - - GRIK1 0 genome.wustl.edu 37 21 30934055 30934055 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 21 30934055 30934055 G A SNP GRIK1 ENST00000535441 human ensembl 69_37n -1 known missense c.2252 p.A751V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 45 0 0.00 81 19 19.00 - - - GSPT2 0 genome.wustl.edu 37 X 51487020 51487020 + Nonsense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 51487020 51487020 C T SNP GSPT2 ENST00000340438 human ensembl 69_37n +1 known nonsense c.298 p.Q100* 0.046 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT2 HGNC ENSG00000189369 29 0 0.00 23 6 20.69 - - - HDAC7 0 genome.wustl.edu 37 12 48183079 48183079 + Missense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 48183079 48183079 G T SNP HDAC7 ENST00000380610 human ensembl 69_37n -1 known missense c.2251 p.Q751K 0.990 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 35 0 0.00 24 4 14.29 - - - HIGD1A 0 genome.wustl.edu 37 3 42835709 42835709 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 42835709 42835709 C G SNP HIGD1A ENST00000452906 human ensembl 69_37n -1 known missense c.79 p.E27Q 1.000 NULL pfam_Hypoxia_induced_domain - no_errors HIGD1A HGNC ENSG00000181061 46 0 0.00 59 12 16.90 - - - HMBS 0 genome.wustl.edu 37 11 118958972 118958972 + Missense_Mutation SNP A A G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 118958972 118958972 A G SNP HMBS ENST00000278715 human ensembl 69_37n +1 known missense c.41 p.N14S 0.906 NULL pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 37 0 0.00 52 19 26.76 - - - HOXB13 0 genome.wustl.edu 37 17 46804342 46804342 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 46804342 46804342 G A SNP HOXB13 ENST00000290295 human ensembl 69_37n -1 known missense c.665 p.P222L 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_HoxA13_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXB13 HGNC ENSG00000159184 21 0 0.00 31 6 16.22 - - - HSP90AA4P 0 genome.wustl.edu 37 4 190395817 190395817 + RNA SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 190395817 190395817 G A SNP HSP90AA4P ENST00000378770 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 38 0 0.00 46 15 24.59 - - - HTATSF1 0 genome.wustl.edu 37 X 135594142 135594142 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 135594142 135594142 C T SNP HTATSF1 ENST00000218364 human ensembl 69_37n +1 known silent c.2238 p.L746 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 52 0 0.00 76 23 23.23 - - - IL27RA 0 genome.wustl.edu 37 19 14142743 14142743 + Missense_Mutation SNP T T C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 14142743 14142743 T C SNP IL27RA ENST00000263379 human ensembl 69_37n +1 known missense c.59 p.L20P 0.003 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 15 0 0.00 24 6 20.00 - - - ITIH5 0 genome.wustl.edu 37 10 7621822 7621822 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 10 7621822 7621822 G A SNP ITIH5 ENST00000256861 human ensembl 69_37n -1 known silent c.1314 p.I438 0.350 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 59 0 0.00 103 23 18.25 - - - IWS1 0 genome.wustl.edu 37 2 128260970 128260970 + Nonsense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 128260970 128260970 C A SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known nonsense c.1402 p.E468* 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 36 0 0.00 62 16 20.51 - - - KIAA1210 0 genome.wustl.edu 37 X 118227690 118227690 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 118227690 118227690 C T SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.1423 p.E475K 0.178 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 68 0 0.00 55 14 20.29 - - - KIFC1 0 genome.wustl.edu 37 6 33374170 33374170 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 33374170 33374170 C T SNP KIFC1 ENST00000428849 human ensembl 69_37n +1 known silent c.1734 p.L578 0.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 40 0 0.00 38 9 19.15 - - - KLC4 0 genome.wustl.edu 37 6 43028032 43028033 + Frame_Shift_Del DEL TC TC - TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 43028032 43028033 TC - DEL KLC4 ENST00000481499 human ensembl 69_37n +1 known frame_shift_del c.85_86 p.L32fs 0.000:0.000 NULL NULL - no_errors KLC4 HGNC ENSG00000137171 54 0 0.00 67 15 18.29 - - - KRTAP10-6 0 genome.wustl.edu 37 21 46011676 46011676 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 21 46011676 46011676 C T SNP KRTAP10-6 ENST00000400368 human ensembl 69_37n -1 known silent c.690 p.V230 0.000 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 66 0 0.00 136 24 15.00 - - - LAMB4 0 genome.wustl.edu 37 7 107706818 107706818 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 107706818 107706818 C T SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.2674 p.E892K 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 20 0 0.00 28 5 15.15 - - - LINC00273 0 genome.wustl.edu 37 16 33961786 33961786 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 33961786 33961786 C T SNP LINC00273 ENST00000539813 human ensembl 69_37n -1 putative missense c.655 p.A219T 0.014 NULL NULL - no_errors LINC00273 HGNC ENSG00000256642 28 0 0.00 39 6 13.33 - - - LINC00588 0 genome.wustl.edu 37 8 58192367 58192367 + RNA SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 8 58192367 58192367 G A SNP LINC00588 ENST00000521663 human ensembl 69_37n +1 known rna NULL NULL 0.212 - - - no_errors LINC00588 HGNC ENSG00000215117 58 0 0.00 97 19 16.38 - - - LRIG1 0 genome.wustl.edu 37 3 66456365 66456365 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 66456365 66456365 C T SNP LRIG1 ENST00000496559 human ensembl 69_37n -1 known rna NULL NULL 0.018 - - - no_errors LRIG1 HGNC ENSG00000144749 18 0 0.00 18 4 18.18 - - - LRRK2 0 genome.wustl.edu 37 12 40742252 40742252 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 40742252 40742252 G A SNP LRRK2 ENST00000298910 human ensembl 69_37n +1 known missense c.6322 p.E2108K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 65 0 0.00 58 22 27.50 - - - MAZ 0 genome.wustl.edu 37 16 29819170 29819170 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 29819170 29819170 G A SNP MAZ ENST00000563012 human ensembl 69_37n +1 novel missense c.32 p.R11H 0.975 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon MAZ HGNC ENSG00000103495 16 0 0.00 18 6 25.00 - - - MBNL3 0 genome.wustl.edu 37 X 131540295 131540295 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 131540295 131540295 C T SNP MBNL3 ENST00000370853 human ensembl 69_37n -1 known silent c.303 p.Q101 0.994 NULL smart_Znf_CCCH - no_errors MBNL3 HGNC ENSG00000076770 42 0 0.00 51 9 15.00 - - - MCM3AP 0 genome.wustl.edu 37 21 47690281 47690281 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 21 47690281 47690281 C T SNP MCM3AP ENST00000479557 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MCM3AP HGNC ENSG00000160294 20 0 0.00 20 4 16.67 - - - MED1 0 genome.wustl.edu 37 17 37564556 37564556 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 37564556 37564556 G A SNP MED1 ENST00000300651 human ensembl 69_37n -1 known silent c.3918 p.V1306 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 20 0 0.00 18 4 18.18 - - - MED12 0 genome.wustl.edu 37 X 70349589 70349589 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 70349589 70349589 G A SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.3751 p.E1251K 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 23 0 0.00 38 6 13.64 - - - MFSD4 0 genome.wustl.edu 37 1 205567990 205567990 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 205567990 205567990 C T SNP MFSD4 ENST00000478555 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors MFSD4 HGNC ENSG00000174514 8 0 0.00 6 12 66.67 - - - MIR1302-8 0 genome.wustl.edu 37 9 100125857 100125857 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 100125857 100125857 C T SNP MIR1302-8 ENST00000408342 human ensembl 69_37n -1 known rna NULL NULL 0.077 - - - no_errors MIR1302-8 HGNC ENSG00000221269 24 0 0.00 21 21 50.00 - - - MIR617 0 genome.wustl.edu 37 12 81226349 81226349 + RNA SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 81226349 81226349 C A SNP MIR617 ENST00000385030 human ensembl 69_37n -1 known rna NULL NULL 0.045 - - - no_errors MIR617 HGNC ENSG00000207763 15 0 0.00 19 6 24.00 - - - MLL3 0 genome.wustl.edu 37 7 151868351 151868351 + Nonsense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 151868351 151868351 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.9451 p.Q3151* 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 28 0 0.00 71 17 19.32 - - - MRPL50 0 genome.wustl.edu 37 9 104153128 104153128 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 104153128 104153128 C G SNP MRPL50 ENST00000374865 human ensembl 69_37n -1 known missense c.97 p.E33Q 0.421 NULL pfam_Ribosomal_L50_mt - no_errors MRPL50 HGNC ENSG00000136897 21 0 0.00 16 7 30.43 - - - MSH5 0 genome.wustl.edu 37 6 31721124 31721124 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 31721124 31721124 C T SNP MSH5 ENST00000375742 human ensembl 69_37n +1 known missense c.910 p.R304C 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 23 0 0.00 19 5 20.83 - - - MYH1 0 genome.wustl.edu 37 17 10399279 10399279 + Silent SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 10399279 10399279 G T SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known silent c.5157 p.L1719 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 70 0 0.00 57 20 25.97 - - - MYH13 0 genome.wustl.edu 37 17 10210333 10210333 + Nonsense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 10210333 10210333 G A SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known nonsense c.5218 p.Q1740* 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 67 0 0.00 43 15 25.86 - - - MYH16 0 genome.wustl.edu 37 7 98903620 98903620 + RNA SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 98903620 98903620 G A SNP MYH16 ENST00000453378 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MYH16 HGNC ENSG00000002079 29 0 0.00 26 12 31.58 - - - NCKAP5L 0 genome.wustl.edu 37 12 50190646 50190646 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 50190646 50190646 C T SNP NCKAP5L ENST00000335999 human ensembl 69_37n -1 known missense c.997 p.E333K 0.991 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 28 0 0.00 35 7 16.67 - - - NDST3 0 genome.wustl.edu 37 4 119036068 119036068 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 119036068 119036068 G A SNP NDST3 ENST00000296499 human ensembl 69_37n +1 known missense c.1177 p.E393K 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 121 0 0.00 146 36 19.78 - - - NDUFS7 0 genome.wustl.edu 37 19 1390884 1390884 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 1390884 1390884 C T SNP NDUFS7 ENST00000233627 human ensembl 69_37n +1 known silent c.243 p.P81 0.994 tigrfam_NADH_UQ_OxRdtase_20Kd_su pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 31 0 0.00 44 13 22.41 - - - NEK11 0 genome.wustl.edu 37 3 130947413 130947413 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 130947413 130947413 G A SNP NEK11 ENST00000383366 human ensembl 69_37n +1 known missense c.1441 p.D481N 0.389 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 46 0 0.00 28 9 24.32 - - - NEU1 0 genome.wustl.edu 37 6 31827913 31827913 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 31827913 31827913 G A SNP NEU1 ENST00000375631 human ensembl 69_37n -1 known silent c.927 p.F309 0.036 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU1 HGNC ENSG00000204386 18 0 0.00 33 8 19.51 - - - NF1 0 genome.wustl.edu 37 17 29585447 29585447 + Nonsense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 29585447 29585447 C G SNP NF1 ENST00000358273 human ensembl 69_37n +1 known nonsense c.4259 p.S1420* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 56 0 0.00 59 20 25.32 - - - NF1 0 genome.wustl.edu 37 17 29585516 29585516 + Nonsense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 29585516 29585516 C G SNP NF1 ENST00000358273 human ensembl 69_37n +1 known nonsense c.4328 p.S1443* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 55 0 0.00 47 15 23.44 - - - NPHP1 0 genome.wustl.edu 37 2 110889333 110889333 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 110889333 110889333 G A SNP NPHP1 ENST00000316534 human ensembl 69_37n -1 known missense c.1733 p.S578F 0.120 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 30 0 0.00 21 4 16.00 - - - NUF2 0 genome.wustl.edu 37 1 163298074 163298074 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 163298074 163298074 C T SNP NUF2 ENST00000271452 human ensembl 69_37n +1 known silent c.255 p.F85 0.986 pfam_Kinetochore_Nuf2 pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 40 0 0.00 61 15 19.74 - - - NUP210L 0 genome.wustl.edu 37 1 154108376 154108376 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 154108376 154108376 G A SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known missense c.923 p.S308F 0.001 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 63 0 0.00 75 12 13.79 - - - OLFM3 0 genome.wustl.edu 37 1 102462320 102462320 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 102462320 102462320 C G SNP OLFM3 ENST00000370103 human ensembl 69_37n -1 known missense c.53 p.G18A 0.999 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 75 0 0.00 91 26 22.22 - - - OR52E6 0 genome.wustl.edu 37 11 5862420 5862420 + Silent SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 5862420 5862420 G C SNP OR52E6 ENST00000379946 human ensembl 69_37n -1 known silent c.720 p.L240 0.020 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 28 0 0.00 29 5 14.71 - - - ORM2 0 genome.wustl.edu 37 9 117092582 117092582 + Missense_Mutation SNP A A C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 117092582 117092582 A C SNP ORM2 ENST00000412657 human ensembl 69_37n +1 known missense c.398 p.H133P 0.000 NULL NULL - no_errors ORM2 HGNC ENSG00000228278 9 0 0.00 6 5 45.45 - - - PAK3 0 genome.wustl.edu 37 X 110388139 110388139 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 110388139 110388139 G A SNP PAK3 ENST00000360648 human ensembl 69_37n +1 known missense c.328 p.E110K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK3 HGNC ENSG00000077264 35 0 0.00 57 16 21.92 - - - PAN2 0 genome.wustl.edu 37 12 56713158 56713158 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 56713158 56713158 G A SNP PAN2 ENST00000425394 human ensembl 69_37n -1 known silent c.3216 p.L1072 0.999 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC ENSG00000135473 47 0 0.00 70 12 14.63 - - - PCDH10 0 genome.wustl.edu 37 4 134072895 134072895 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 134072895 134072895 G C SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known missense c.1600 p.E534Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 18 0 0.00 39 14 26.42 - - - PCF11 0 genome.wustl.edu 37 11 82877653 82877653 + Nonsense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 82877653 82877653 C T SNP PCF11 ENST00000298281 human ensembl 69_37n +1 known nonsense c.1714 p.Q572* 0.997 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 25 0 0.00 18 10 35.71 - - - PCSK6 0 genome.wustl.edu 37 15 101887939 101887939 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 101887939 101887939 C T SNP PCSK6 ENST00000344273 human ensembl 69_37n -1 known missense c.1945 p.E649K 0.000 NULL 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 PCSK6 HGNC ENSG00000140479 42 0 0.00 44 11 20.00 - - - PGAP2 0 genome.wustl.edu 37 11 3846131 3846131 + RNA SNP A A G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 3846131 3846131 A G SNP PGAP2 ENST00000532017 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PGAP2 HGNC ENSG00000148985 16 0 0.00 25 6 19.35 - - - PGM1 0 genome.wustl.edu 37 1 64100532 64100532 + Nonsense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 64100532 64100532 G T SNP PGM1 ENST00000371083 human ensembl 69_37n +1 known nonsense c.769 p.E257* 1.000 pfam_A-D-PHexomutase_a/b/a-II pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 33 0 0.00 34 5 12.82 - - - PHLDB3 0 genome.wustl.edu 37 19 43999763 43999763 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 43999763 43999763 G A SNP PHLDB3 ENST00000292140 human ensembl 69_37n -1 known silent c.835 p.L279 0.410 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 32 0 0.00 36 14 28.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 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 18 0 0.00 24 9 27.27 - - - PKD1L1 0 genome.wustl.edu 37 7 47969108 47969108 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 47969108 47969108 C T SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known silent c.753 p.P251 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 9 0 0.00 11 6 35.29 - - - PMS2P4 0 genome.wustl.edu 37 7 66762213 66762213 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 66762213 66762213 C T SNP PMS2P4 ENST00000414507 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PMS2P4 HGNC ENSG00000067601 84 0 0.00 89 10 10.10 - - - POGZ 0 genome.wustl.edu 37 1 151381003 151381003 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 151381003 151381003 C T SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.2116 p.D706N 0.927 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 17 0 0.00 20 6 23.08 - - - POMGNT1 0 genome.wustl.edu 37 1 46654475 46654475 + Silent SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 46654475 46654475 C G SNP POMGNT1 ENST00000371986 human ensembl 69_37n -1 known silent c.2163 p.L721 1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 27 0 0.00 29 10 25.64 - - - POMGNT1 0 genome.wustl.edu 37 1 46656456 46656456 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 46656456 46656456 C G SNP POMGNT1 ENST00000371986 human ensembl 69_37n -1 known missense c.1540 p.E514Q 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 36 0 0.00 43 15 25.86 - - - POSTN 0 genome.wustl.edu 37 13 38164577 38164577 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 13 38164577 38164577 C T SNP POSTN ENST00000379747 human ensembl 69_37n -1 known missense c.373 p.E125K 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 26 0 0.00 34 12 26.09 - - - PRR23B 0 genome.wustl.edu 37 3 138738918 138738918 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 138738918 138738918 C T SNP PRR23B ENST00000329447 human ensembl 69_37n -1 known missense c.586 p.E196K 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 36 0 0.00 30 8 21.05 - - - PTPDC1 0 genome.wustl.edu 37 9 96860128 96860128 + Nonsense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 96860128 96860128 G A SNP PTPDC1 ENST00000375360 human ensembl 69_37n +1 known nonsense c.1118 p.W373* 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC ENSG00000158079 34 0 0.00 49 11 18.33 - - - RAB13 0 genome.wustl.edu 37 1 153955601 153955602 + RNA INS - - A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 153955601 153955602 - A INS RAB13 ENST00000462680 human ensembl 69_37n -1 known rna NULL NULL 0.027:0.029 - - - no_errors RAB13 HGNC ENSG00000143545 11 0 0.00 12 3 20.00 - - - RASIP1 0 genome.wustl.edu 37 19 49228118 49228118 + Nonsense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 49228118 49228118 C A SNP RASIP1 ENST00000222145 human ensembl 69_37n -1 known nonsense c.2227 p.G743* 0.873 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 34 0 0.00 60 7 10.45 - - - RBBP6 0 genome.wustl.edu 37 16 24581109 24581109 + Missense_Mutation SNP A A G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 24581109 24581109 A G SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known missense c.3098 p.N1033S 0.240 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 14 0 0.00 9 10 52.63 - - - RBP3 0 genome.wustl.edu 37 10 48385957 48385957 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 10 48385957 48385957 C G SNP RBP3 ENST00000224600 human ensembl 69_37n -1 known missense c.3135 p.L1045F 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 22 0 0.00 32 6 15.79 - - - RDH16 0 genome.wustl.edu 37 12 57345768 57345768 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 57345768 57345768 C T SNP RDH16 ENST00000360752 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors RDH16 HGNC ENSG00000139547 23 0 0.00 43 17 28.33 - - - RFPL2 0 genome.wustl.edu 37 22 32588949 32588949 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 22 32588949 32588949 C G SNP RFPL2 ENST00000400237 human ensembl 69_37n -1 known missense c.496 p.E166Q 0.464 pfam_RDM_domain_RFPL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors RFPL2 HGNC ENSG00000128253 59 0 0.00 73 21 22.34 - - - RIMBP2 0 genome.wustl.edu 37 12 130926638 130926638 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 130926638 130926638 G A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known missense c.1208 p.T403M 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 68 0 0.00 73 14 16.09 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037856 10037856 + RNA SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc Y 10037856 10037856 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 39 0 0.00 39 8 17.02 - - - RNF150 0 genome.wustl.edu 37 4 142053860 142053860 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 142053860 142053860 C T SNP RNF150 ENST00000515673 human ensembl 69_37n -1 known missense c.103 p.E35K 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 15 0 0.00 16 4 20.00 - - - RNF181 0 genome.wustl.edu 37 2 85824654 85824654 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 85824654 85824654 C T SNP RNF181 ENST00000456023 human ensembl 69_37n +1 putative silent c.477 p.L159 0.016 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF181 HGNC ENSG00000168894 54 0 0.00 53 15 22.06 - - - RNF186 0 genome.wustl.edu 37 1 20141288 20141288 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 20141288 20141288 C T SNP RNF186 ENST00000375121 human ensembl 69_37n -1 known missense c.307 p.E103K 0.576 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF186 HGNC ENSG00000178828 27 0 0.00 47 6 11.32 - - - RNF213 0 genome.wustl.edu 37 17 78261666 78261666 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 78261666 78261666 C T SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.314 p.S105L 0.001 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 23 0 0.00 20 5 20.00 - - - RYR3 0 genome.wustl.edu 37 15 34123205 34123205 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 34123205 34123205 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.11376 p.D3792 1.000 pfam_RIH_assoc-dom,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 38 0 0.00 46 7 13.21 - - - SHROOM4 0 genome.wustl.edu 37 X 50350778 50350778 + Missense_Mutation SNP T T G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 50350778 50350778 T G SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known missense c.3364 p.K1122Q 0.014 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 18 0 0.00 16 5 23.81 - - - SHROOM4 0 genome.wustl.edu 37 X 50350782 50350782 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc X 50350782 50350782 C T SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known silent c.3360 p.Q1120 0.943 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 18 0 0.00 16 5 23.81 - - - SIDT2 0 genome.wustl.edu 37 11 117063053 117063053 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 117063053 117063053 C T SNP SIDT2 ENST00000278951 human ensembl 69_37n +1 known silent c.2019 p.L673 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 32 0 0.00 44 14 24.14 - - - SIRPG 0 genome.wustl.edu 37 20 1629905 1629905 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 20 1629905 1629905 C G SNP SIRPG ENST00000303415 human ensembl 69_37n -1 known missense c.223 p.E75Q 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPG HGNC ENSG00000089012 68 0 0.00 85 25 22.73 - - - SLCO5A1 0 genome.wustl.edu 37 8 70667681 70667681 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 8 70667681 70667681 C T SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known missense c.1236 p.M412I 0.984 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 34 0 0.00 38 25 39.68 - - - STAB1 0 genome.wustl.edu 37 3 52556576 52556576 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 52556576 52556576 C T SNP STAB1 ENST00000321725 human ensembl 69_37n +1 known missense c.6616 p.R2206W 0.759 smart_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 29 0 0.00 40 8 16.67 - - - STAG3 0 genome.wustl.edu 37 7 99802301 99802301 + Missense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 99802301 99802301 C A SNP STAG3 ENST00000317296 human ensembl 69_37n +1 known missense c.2854 p.P952T 0.998 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 21 0 0.00 45 17 27.42 - - - STK32A 0 genome.wustl.edu 37 5 146754671 146754671 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 5 146754671 146754671 G C SNP STK32A ENST00000397936 human ensembl 69_37n +1 known missense c.922 p.D308H 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32A HGNC ENSG00000169302 34 0 0.00 53 10 15.87 - - - STMN3 0 genome.wustl.edu 37 20 62275115 62275115 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 20 62275115 62275115 C T SNP STMN3 ENST00000370053 human ensembl 69_37n -1 known silent c.285 p.R95 1.000 pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin - no_errors STMN3 HGNC ENSG00000197457 17 0 0.00 26 6 18.75 - - - STX4 0 genome.wustl.edu 37 16 31044468 31044468 + RNA SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 31044468 31044468 C G SNP STX4 ENST00000493902 human ensembl 69_37n +1 known rna NULL NULL 0.021 - - - no_errors STX4 HGNC ENSG00000103496 10 0 0.00 24 6 20.00 - - - SYNE2 0 genome.wustl.edu 37 14 64547350 64547350 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 14 64547350 64547350 G A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known silent c.11340 p.L3780 0.677 smart_Spectrin/alpha-actinin 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 82 0 0.00 120 31 20.53 - - - SYNE3 0 genome.wustl.edu 37 14 95934203 95934203 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 14 95934203 95934203 C T SNP SYNE3 ENST00000334258 human ensembl 69_37n -1 known silent c.246 p.G82 0.263 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 33 0 0.00 53 12 18.46 - - - SYT6 0 genome.wustl.edu 37 1 114682373 114682373 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 114682373 114682373 C T SNP SYT6 ENST00000369545 human ensembl 69_37n -1 known missense c.376 p.G126S 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC ENSG00000134207 20 0 0.00 23 4 14.81 - - - TACR2 0 genome.wustl.edu 37 10 71164782 71164782 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 10 71164782 71164782 C G SNP TACR2 ENST00000373306 human ensembl 69_37n -1 known missense c.997 p.E333Q 0.954 prints_NK2_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 27 0 0.00 71 11 13.41 - - - TAF1L 0 genome.wustl.edu 37 9 32631814 32631814 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 32631814 32631814 C T SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.3764 p.R1255Q 0.997 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 47 0 0.00 54 13 19.40 - - - TARBP1 0 genome.wustl.edu 37 1 234536980 234536980 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 234536980 234536980 G C SNP TARBP1 ENST00000040877 human ensembl 69_37n -1 known missense c.4018 p.Q1340E 1.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 26 0 0.00 49 16 24.62 - - - TBC1D29 0 genome.wustl.edu 37 17 28887667 28887667 + Silent SNP T T C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 17 28887667 28887667 T C SNP TBC1D29 ENST00000579181 human ensembl 69_37n +1 known silent c.111 p.D37 1.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 46 0 0.00 53 11 17.19 - - - TFAP4 0 genome.wustl.edu 37 16 4322744 4322744 + Nonsense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 4322744 4322744 C A SNP TFAP4 ENST00000204517 human ensembl 69_37n -1 known nonsense c.4 p.E2* 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFAP4 HGNC ENSG00000090447 57 0 0.00 96 16 14.29 - - - TIGD3 0 genome.wustl.edu 37 11 65123363 65123363 + Missense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 65123363 65123363 G T SNP TIGD3 ENST00000309880 human ensembl 69_37n +1 known missense c.84 p.K28N 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 29 0 0.00 37 24 39.34 - - - TIGD3 0 genome.wustl.edu 37 11 65124541 65124541 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 65124541 65124541 G A SNP TIGD3 ENST00000309880 human ensembl 69_37n +1 known missense c.1262 p.R421K 0.005 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 21 0 0.00 15 8 34.78 - - - TIGD3 0 genome.wustl.edu 37 11 65124663 65124663 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 11 65124663 65124663 G C SNP TIGD3 ENST00000309880 human ensembl 69_37n +1 known missense c.1384 p.E462Q 0.999 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 18 0 0.00 30 8 21.05 - - - TIPIN 0 genome.wustl.edu 37 15 66671800 66671800 + RNA SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 66671800 66671800 C G SNP TIPIN ENST00000561773 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 85 0 0.00 99 16 13.79 - - - TLE6 0 genome.wustl.edu 37 19 2989231 2989231 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 2989231 2989231 G A SNP TLE6 ENST00000246112 human ensembl 69_37n +1 known missense c.913 p.G305S 0.958 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 8 0 0.00 16 6 27.27 - - - TMEM131 0 genome.wustl.edu 37 2 98375464 98375464 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 98375464 98375464 C T SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known silent c.5259 p.R1753 0.995 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 36 0 0.00 51 17 25.00 - - - TMEM74 0 genome.wustl.edu 37 8 109796528 109796528 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 8 109796528 109796528 G A SNP TMEM74 ENST00000297459 human ensembl 69_37n -1 known missense c.800 p.S267F 1.000 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 48 0 0.00 43 12 21.82 - - - TNIK 0 genome.wustl.edu 37 3 170819401 170819401 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 3 170819401 170819401 C G SNP TNIK ENST00000436636 human ensembl 69_37n -1 known missense c.2428 p.E810Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 80 0 0.00 64 24 27.27 - - - TNXB 0 genome.wustl.edu 37 6 32065108 32065108 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 32065108 32065108 C T SNP TNXB ENST00000375247 human ensembl 69_37n -1 known silent c.522 p.E174 0.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 37 0 0.00 35 8 18.60 - - - TPR 0 genome.wustl.edu 37 1 186321198 186321198 + Missense_Mutation SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 186321198 186321198 C A SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.2379 p.L793F 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 42 0 0.00 55 7 11.29 - - - TRPC4AP 0 genome.wustl.edu 37 20 33591329 33591329 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 20 33591329 33591329 G A SNP TRPC4AP ENST00000252015 human ensembl 69_37n -1 known missense c.2140 p.R714W 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 93 0 0.00 175 22 11.17 - - - TSHZ2 0 genome.wustl.edu 37 20 51872433 51872433 + Silent SNP C C A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 20 51872433 51872433 C A SNP TSHZ2 ENST00000371497 human ensembl 69_37n +1 known silent c.2436 p.S812 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 19 0 0.00 33 16 32.65 - - - TSPAN11 0 genome.wustl.edu 37 12 31135536 31135536 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 12 31135536 31135536 G A SNP TSPAN11 ENST00000261177 human ensembl 69_37n +1 known missense c.526 p.E176K 0.980 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 38 0 0.00 73 19 20.65 - - - UBE2Q2P1 0 genome.wustl.edu 37 15 85070737 85070738 + RNA INS - - A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 15 85070737 85070738 - A INS UBE2Q2P1 ENST00000339094 human ensembl 69_37n -1 known rna NULL NULL 0.007:0.009 - - - no_errors UBE2Q2P1 HGNC ENSG00000189136 10 0 0.00 6 3 33.33 - - - UBN2 0 genome.wustl.edu 37 7 138946214 138946214 + Nonstop_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 138946214 138946214 G C SNP UBN2 ENST00000483726 human ensembl 69_37n +1 putative nonstop c.428 p.*143S 0.757 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBN2 HGNC ENSG00000157741 24 0 0.00 33 4 10.81 - - - UCK1 0 genome.wustl.edu 37 9 134404460 134404460 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 134404460 134404460 C T SNP UCK1 ENST00000459858 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UCK1 HGNC ENSG00000130717 47 0 0.00 64 16 20.00 - - - UGT1A9 0 genome.wustl.edu 37 2 234581019 234581019 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 234581019 234581019 C T SNP UGT1A9 ENST00000354728 human ensembl 69_37n +1 known missense c.439 p.L147F 0.762 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 46 0 0.00 42 10 19.23 - - - UNC5B 0 genome.wustl.edu 37 10 73046505 73046505 + Silent SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 10 73046505 73046505 C T SNP UNC5B ENST00000335350 human ensembl 69_37n +1 known silent c.612 p.L204 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5B HGNC ENSG00000107731 46 0 0.00 70 17 19.54 - - - UQCR11 0 genome.wustl.edu 37 19 1599413 1599413 + RNA SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 19 1599413 1599413 G A SNP UQCR11 ENST00000593029 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UQCR11 HGNC ENSG00000127540 58 0 0.00 127 28 18.06 - - - WDR38 0 genome.wustl.edu 37 9 127619046 127619046 + Missense_Mutation SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 9 127619046 127619046 G T SNP WDR38 ENST00000373574 human ensembl 69_37n +1 known missense c.654 p.W218C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR38 HGNC ENSG00000136918 37 0 0.00 53 15 22.06 - - - XIRP2 0 genome.wustl.edu 37 2 168105391 168105391 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 2 168105391 168105391 G A SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.7489 p.A2497T 0.008 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 20 0 0.00 16 4 20.00 - - - ZBTB37 0 genome.wustl.edu 37 1 173840037 173840037 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 1 173840037 173840037 G A SNP ZBTB37 ENST00000367701 human ensembl 69_37n +1 known missense c.674 p.G225E 0.990 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 16 0 0.00 26 6 18.75 - - - ZC2HC1C 0 genome.wustl.edu 37 14 75544334 75544334 + RNA SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 14 75544334 75544334 G A SNP ZC2HC1C ENST00000526748 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors ZC2HC1C HGNC ENSG00000119703 32 0 0.00 38 9 19.15 - - - ZC3H7B 0 genome.wustl.edu 37 22 41753373 41753373 + Missense_Mutation SNP C C G TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 22 41753373 41753373 C G SNP ZC3H7B ENST00000351589 human ensembl 69_37n +1 known missense c.2874 p.D958E 0.002 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 44 0 0.00 57 21 26.92 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138738312 138738312 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 138738312 138738312 C T SNP ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known missense c.2334 p.M778I 0.991 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 40 0 0.00 44 9 16.98 - - - ZNF292 0 genome.wustl.edu 37 6 87964456 87964456 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 6 87964456 87964456 C T SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known missense c.1109 p.S370F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 22 0 0.00 34 8 19.05 - - - ZNF467 0 genome.wustl.edu 37 7 149461947 149461947 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 149461947 149461947 G A SNP ZNF467 ENST00000302017 human ensembl 69_37n -1 known silent c.1644 p.C548 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 50 0 0.00 63 47 42.73 - - - ZNF479 0 genome.wustl.edu 37 7 57188761 57188761 + Missense_Mutation SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 57188761 57188761 C T SNP ZNF479 ENST00000331162 human ensembl 69_37n -1 known missense c.361 p.E121K 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 ZNF479 HGNC ENSG00000185177 60 0 0.00 79 11 12.22 - - - ZNF518B 0 genome.wustl.edu 37 4 10445844 10445844 + Silent SNP G G T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 10445844 10445844 G T SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known silent c.2109 p.T703 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 23 0 0.00 26 4 13.33 - - - ZNF595 0 genome.wustl.edu 37 4 87197 87197 + RNA SNP C C T TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 4 87197 87197 C T SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 0.859 - - - no_errors ZNF595 HGNC ENSG00000197701 50 0 0.00 40 17 29.82 - - - ZNF598 0 genome.wustl.edu 37 16 2052577 2052577 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 2052577 2052577 G A SNP ZNF598 ENST00000431526 human ensembl 69_37n -1 known missense c.622 p.R208C 0.811 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 35 0 0.00 68 17 20.00 - - - ZNF689 0 genome.wustl.edu 37 16 30615847 30615847 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 16 30615847 30615847 G A SNP ZNF689 ENST00000287461 human ensembl 69_37n -1 known missense c.1241 p.S414L 0.879 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 ZNF689 HGNC ENSG00000156853 30 0 0.00 52 8 13.33 - - - ZNF716 0 genome.wustl.edu 37 7 57529366 57529366 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 57529366 57529366 G A SNP ZNF716 ENST00000420713 human ensembl 69_37n +1 known missense c.1199 p.R400K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 14 0 0.00 23 5 17.86 - - - ZNF800 0 genome.wustl.edu 37 7 127014569 127014569 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbe3a4c-23ef-45a3-a01c-59ba13f053e4 d04ce8a0-807d-478f-adae-56fdef6c1ecc 7 127014569 127014569 G A SNP ZNF800 ENST00000265827 human ensembl 69_37n -1 known missense c.821 p.S274F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 38 0 0.00 71 10 12.35 - - -