Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source AASDH 132949 genome.wustl.edu 37 4 57237717 57237717 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 57237717 57237717 G A SNP AASDH ENST00000205214 human ensembl 70_37 -1 known missense c.761 p.S254L 0.986 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ABI3 51225 genome.wustl.edu 37 17 47295176 47295176 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 47295176 47295176 G A SNP ABI3 ENST00000225941 human ensembl 70_37 +1 known missense c.361 p.G121S 0.018 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ABL2 27 genome.wustl.edu 37 1 179095626 179095626 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 179095626 179095626 G A SNP ABL2 ENST00000502732 human ensembl 70_37 -1 known silent c.573 p.I191 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33891856 33891856 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 5 33891856 33891856 G A SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.106 p.R36C 0.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC AGAP11 119385 genome.wustl.edu 37 10 88760457 88760457 + RNA DEL T T - TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 10 88760457 88760457 T - DEL AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AGAP11 HGNC ANKRD13B 124930 genome.wustl.edu 37 17 27936291 27936291 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 27936291 27936291 G C SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known missense c.753 p.E251D 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ANKRD20A11P 391267 genome.wustl.edu 37 21 15297553 15297553 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 21 15297553 15297553 C T SNP ANKRD20A11P ENST00000442192 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A11P HGNC ANKS1B 56899 genome.wustl.edu 37 12 99478734 99478734 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 99478734 99478734 C G SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known missense c.2594 p.R865T 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ASUN 55726 genome.wustl.edu 37 12 27089604 27089604 + Missense_Mutation SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 27089604 27089604 C A SNP ASUN ENST00000261191 human ensembl 70_37 -1 known missense c.133 p.A45S 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ATP10A 57194 genome.wustl.edu 37 15 25940070 25940070 + Missense_Mutation SNP G G T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 25940070 25940070 G T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.2984 p.A995D 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC BRD2 6046 genome.wustl.edu 37 6 32943932 32943932 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 32943932 32943932 G A SNP BRD2 ENST00000395289 human ensembl 70_37 +1 known missense c.596 p.G199E 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC C11orf21 29125 genome.wustl.edu 37 11 2320718 2320718 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 2320718 2320718 G A SNP C11orf21 ENST00000456145 human ensembl 70_37 -1 known missense c.505 p.R169W 0.026 NULL NULL - no_errors C11orf21 HGNC CACNA1H 8912 genome.wustl.edu 37 16 1268999 1268999 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 1268999 1268999 G A SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.5917 p.A1973T 0.002 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CEP250 11190 genome.wustl.edu 37 20 34079140 34079140 + Nonsense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 20 34079140 34079140 C T SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known nonsense c.2857 p.Q953* 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC CEP350 9857 genome.wustl.edu 37 1 179961214 179961214 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 179961214 179961214 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.253 p.D85N 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC CLK1 1195 genome.wustl.edu 37 2 201724850 201724850 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 201724850 201724850 C G SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.479 p.R160T 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 CLK1 HGNC DALRD3 55152 genome.wustl.edu 37 3 49054257 49054257 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 49054257 49054257 C T SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known silent c.951 p.V317 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC DEPDC5 9681 genome.wustl.edu 37 22 32242914 32242914 + Nonsense_Mutation SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 32242914 32242914 C A SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known nonsense c.3116 p.S1039* 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC DET1 55070 genome.wustl.edu 37 15 89070930 89070930 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 89070930 89070930 C T SNP DET1 ENST00000444300 human ensembl 70_37 -1 known missense c.1204 p.E402K 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC DNAAF1 123872 genome.wustl.edu 37 16 84203864 84203864 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 84203864 84203864 C T SNP DNAAF1 ENST00000378553 human ensembl 70_37 +1 known missense c.1430 p.P477L 0.007 NULL NULL - no_errors DNAAF1 HGNC EFCAB7 84455 genome.wustl.edu 37 1 63998424 63998424 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 63998424 63998424 C T SNP EFCAB7 ENST00000371088 human ensembl 70_37 +1 known silent c.483 p.I161 0.743 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC ELP2 55250 genome.wustl.edu 37 18 33750155 33750155 + Nonsense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 18 33750155 33750155 C T SNP ELP2 ENST00000358232 human ensembl 70_37 +1 known nonsense c.2206 p.Q736* 0.255 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000231512 0 genome.wustl.edu 37 1 243211121 243211121 + RNA SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 243211121 243211121 G C SNP ENSG00000231512 ENST00000420830 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143378154 143378154 + RNA SNP A A G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 143378154 143378154 A G SNP ENSG00000238261 ENST00000428624 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000254967 0 genome.wustl.edu 37 11 125825510 125825510 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 125825510 125825510 G A SNP ENSG00000254967 ENST00000524962 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors RP11-680F20.6 Clone_based_vega_gene ENSG00000260803 0 genome.wustl.edu 37 16 84858 84858 + RNA SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 84858 84858 C G SNP ENSG00000260803 ENST00000568710 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors Z84812.4 Clone_based_vega_gene ENSG00000262920 0 genome.wustl.edu 37 17 171366 171366 + RNA SNP A A G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 171366 171366 A G SNP ENSG00000262920 ENST00000570501 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors RP11-1260E13.1 Clone_based_vega_gene FAM86B3P 286042 genome.wustl.edu 37 8 8092043 8092043 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 8092043 8092043 C T SNP FAM86B3P ENST00000522601 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors FAM86B3P HGNC FLNC 2318 genome.wustl.edu 37 7 128477264 128477264 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 128477264 128477264 G A SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.652 p.A218T 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FREM1 158326 genome.wustl.edu 37 9 14784445 14784445 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 9 14784445 14784445 G A SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known silent c.4368 p.F1456 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC GGT7 2686 genome.wustl.edu 37 20 33437774 33437774 + Silent SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 20 33437774 33437774 C A SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel silent c.1815 p.L605 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC GOLGA3 2802 genome.wustl.edu 37 12 133353621 133353621 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 133353621 133353621 C T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known missense c.3778 p.E1260K 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC GUSBP5 441046 genome.wustl.edu 37 4 144481154 144481154 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 144481154 144481154 C T SNP GUSBP5 ENST00000509369 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors GUSBP5 HGNC HIST1H1A 3024 genome.wustl.edu 37 6 26017563 26017563 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 26017563 26017563 G A SNP HIST1H1A ENST00000244573 human ensembl 70_37 -1 known missense c.398 p.T133M 0.030 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1A HGNC KIAA0430 9665 genome.wustl.edu 37 16 15703466 15703466 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 15703466 15703466 G A SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3868 p.H1290Y 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA0430 9665 genome.wustl.edu 37 16 15703574 15703574 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 15703574 15703574 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3760 p.Q1254E 0.999 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA0430 9665 genome.wustl.edu 37 16 15706497 15706497 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 15706497 15706497 G C SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.3391 p.H1131D 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA0513 9764 genome.wustl.edu 37 16 85111196 85111196 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 85111196 85111196 G A SNP KIAA0513 ENST00000258180 human ensembl 70_37 +1 known missense c.740 p.G247E 1.000 NULL pfam_SBF2 - no_errors KIAA0513 HGNC KIF13B 23303 genome.wustl.edu 37 8 28997699 28997699 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 28997699 28997699 G A SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known missense c.2494 p.R832W 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC LACTB 114294 genome.wustl.edu 37 15 63433478 63433478 + Splice_Site SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 63433478 63433478 G C SNP LACTB ENST00000261893 human ensembl 70_37 +1 known splice_site c.1119-1 e6-1 1.000 - - - no_errors LACTB HGNC MAD1L1 8379 genome.wustl.edu 37 7 1855517 1855517 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 1855517 1855517 C T SNP MAD1L1 ENST00000468372 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAD1L1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65271372 65271372 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 65271372 65271372 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65271994 65271994 + RNA SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 65271994 65271994 G C SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65272527 65272527 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 65272527 65272527 G A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors MALAT1 HGNC MBD3 53615 genome.wustl.edu 37 19 1581162 1581162 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 1581162 1581162 C T SNP MBD3 ENST00000156825 human ensembl 70_37 -1 known silent c.606 p.K202 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC MGP 4256 genome.wustl.edu 37 12 15037770 15037770 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 15037770 15037770 G A SNP MGP ENST00000228938 human ensembl 70_37 -1 novel missense c.113 p.S38F 0.509 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_bone - no_errors MGP HGNC MMP11 4320 genome.wustl.edu 37 22 24121514 24121514 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 24121514 24121514 C T SNP MMP11 ENST00000215743 human ensembl 70_37 +1 known silent c.249 p.P83 0.961 pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP11 HGNC MYO9B 4650 genome.wustl.edu 37 19 17312782 17312782 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 17312782 17312782 C G SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.4611 p.I1537M 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC MZF1 7593 genome.wustl.edu 37 19 59081860 59081860 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 59081860 59081860 G A SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.431 p.S144L 0.949 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC NFIC 4782 genome.wustl.edu 37 19 3453781 3453781 + Silent SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 3453781 3453781 C G SNP NFIC ENST00000443272 human ensembl 70_37 +1 known silent c.1290 p.L430 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC NPAS1 4861 genome.wustl.edu 37 19 47548507 47548507 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 47548507 47548507 G A SNP NPAS1 ENST00000449844 human ensembl 70_37 +1 known silent c.1371 p.Q457 0.511 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS1 HGNC OR1B1 347169 genome.wustl.edu 37 9 125391128 125391128 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 9 125391128 125391128 G A SNP OR1B1 ENST00000304833 human ensembl 70_37 -1 novel silent c.687 p.A229 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC OR8H2 390151 genome.wustl.edu 37 11 55872653 55872653 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 55872653 55872653 G A SNP OR8H2 ENST00000313503 human ensembl 70_37 +1 known silent c.135 p.G45 0.434 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC PNPLA8 50640 genome.wustl.edu 37 7 108142958 108142958 + Silent SNP G G T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 108142958 108142958 G T SNP PNPLA8 ENST00000257694 human ensembl 70_37 -1 known silent c.1335 p.L445 0.807 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC URAD 646625 genome.wustl.edu 37 13 28562708 28562708 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 13 28562708 28562708 C G SNP PRHOXNB ENST00000332715 human ensembl 70_37 -1 known missense c.67 p.E23Q 0.380 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1 - no_errors PRHOXNB HGNC PRKDC 5591 genome.wustl.edu 37 8 48855777 48855777 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 48855777 48855777 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.958 p.L320V 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRRX2 51450 genome.wustl.edu 37 9 132482886 132482886 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 9 132482886 132482886 G C SNP PRRX2 ENST00000372469 human ensembl 70_37 +1 known missense c.459 p.Q153H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX2 HGNC PTPRF 5792 genome.wustl.edu 37 1 44086197 44086197 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 44086197 44086197 G C SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.5311 p.E1771Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC RAPGEF4 11069 genome.wustl.edu 37 2 173832141 173832141 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 173832141 173832141 G A SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.973 p.D325N 1.000 NULL pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC RBMS1 5937 genome.wustl.edu 37 2 161143497 161143497 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 161143497 161143497 C G SNP RBMS1 ENST00000392753 human ensembl 70_37 -1 known missense c.739 p.E247Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC RPL3 6122 genome.wustl.edu 37 22 39709277 39709277 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 39709277 39709277 C G SNP RPL3 ENST00000216146 human ensembl 70_37 -1 known missense c.1086 p.K362N 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel - no_errors RPL3 HGNC RUNX3 864 genome.wustl.edu 37 1 25228968 25228968 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 25228968 25228968 G A SNP RUNX3 ENST00000338888 human ensembl 70_37 -1 known missense c.935 p.P312L 1.000 pirsf_TF_Runt-rel_RUNX pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC SCG5 6447 genome.wustl.edu 37 15 32972022 32972022 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 32972022 32972022 C T SNP SCG5 ENST00000300175 human ensembl 70_37 +1 known silent c.282 p.I94 0.120 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC SEC24B 10427 genome.wustl.edu 37 4 110427532 110427532 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 110427532 110427532 C T SNP SEC24B ENST00000265175 human ensembl 70_37 +1 known missense c.1537 p.L513F 0.994 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC SHISA6 388336 genome.wustl.edu 37 17 11166735 11166735 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 11166735 11166735 G A SNP SHISA6 ENST00000441885 human ensembl 70_37 +1 known missense c.691 p.E231K 1.000 NULL NULL - no_errors SHISA6 HGNC SI 6476 genome.wustl.edu 37 3 164709259 164709259 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 164709259 164709259 C G SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.4990 p.D1664H 0.827 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SLITRK5 26050 genome.wustl.edu 37 13 88329623 88329623 + Silent SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 13 88329623 88329623 G A SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known silent c.1980 p.S660 0.200 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC SNAP91 9892 genome.wustl.edu 37 6 84304150 84304150 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 84304150 84304150 C T SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.1375 p.A459T 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC SPA17 53340 genome.wustl.edu 37 11 124564303 124564306 + Frame_Shift_Del DEL AAAT AAAT - TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 AAAT AAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 124564303 124564306 AAAT - DEL SPA17 ENST00000227135 human ensembl 70_37 +1 putative frame_shift_del c.417_420 p.N140fs 0.000:0.000:0.000:0.000 pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC SPAG16 79582 genome.wustl.edu 37 2 214354699 214354699 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 2 214354699 214354699 C T SNP SPAG16 ENST00000331683 human ensembl 70_37 +1 known missense c.955 p.P319S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42147508 42147508 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 42147508 42147508 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.9337 p.E3113K 0.866 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SQLE 6713 genome.wustl.edu 37 8 126011819 126011819 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 126011819 126011819 G C SNP SQLE ENST00000265896 human ensembl 70_37 +1 known missense c.174 p.Q58H 0.875 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC STARD9 57519 genome.wustl.edu 37 15 42982596 42982596 + Silent SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 42982596 42982596 C G SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known silent c.8820 p.L2940 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC TAS2R42 353164 genome.wustl.edu 37 12 11339326 11339326 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 11339326 11339326 G A SNP TAS2R42 ENST00000334266 human ensembl 70_37 -1 known missense c.218 p.S73L 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC TBC1D10A 83874 genome.wustl.edu 37 22 30688730 30688730 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 22 30688730 30688730 C T SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known silent c.1161 p.L387 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC TMEM134 80194 genome.wustl.edu 37 11 67232007 67232007 + RNA SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 67232007 67232007 C T SNP TMEM134 ENST00000535813 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM134 HGNC TP53INP1 94241 genome.wustl.edu 37 8 95952425 95952425 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 8 95952425 95952425 C T SNP TP53INP1 ENST00000342697 human ensembl 70_37 -1 known missense c.136 p.E46K 1.000 NULL NULL - no_errors TP53INP1 HGNC TPM3 7170 genome.wustl.edu 37 1 154143796 154143796 + RNA SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 1 154143796 154143796 G C SNP TPM3 ENST00000469717 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC TUBA1B 10376 genome.wustl.edu 37 12 49521749 49521749 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 49521749 49521749 C G SNP TUBA1B ENST00000336023 human ensembl 70_37 -1 known missense c.1348 p.E450Q 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC TYR 7299 genome.wustl.edu 37 11 88911211 88911211 + Silent SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 11 88911211 88911211 G C SNP TYR ENST00000263321 human ensembl 70_37 +1 known silent c.90 p.L30 0.955 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ULK2 9706 genome.wustl.edu 37 17 19685287 19685287 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 17 19685287 19685287 C G SNP ULK2 ENST00000361658 human ensembl 70_37 -1 known missense c.2554 p.E852Q 0.998 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC VAC14 55697 genome.wustl.edu 37 16 70765414 70765414 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 70765414 70765414 C T SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.1645 p.G549S 1.000 pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC VCAN 1462 genome.wustl.edu 37 5 82789643 82789643 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 5 82789643 82789643 G C SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.641 p.R214T 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VPS29 51699 genome.wustl.edu 37 12 110930923 110930923 + Missense_Mutation SNP C C G TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 12 110930923 110930923 C G SNP VPS29 ENST00000397678 human ensembl 70_37 -1 known missense c.321 p.Q107H 1.000 tigrfam_Phosphodiesterase_MJ0936 tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC VPS33B 26276 genome.wustl.edu 37 15 91545319 91545319 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 15 91545319 91545319 C T SNP VPS33B ENST00000333371 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC VSTM2B 342865 genome.wustl.edu 37 19 30018176 30018176 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 19 30018176 30018176 G A SNP VSTM2B ENST00000335523 human ensembl 70_37 +1 known missense c.141 p.M47I 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2B HGNC VWDE 221806 genome.wustl.edu 37 7 12419153 12419153 + Missense_Mutation SNP G G C TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 7 12419153 12419153 G C SNP VWDE ENST00000452576 human ensembl 70_37 -1 known missense c.829 p.H277D 0.361 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors VWDE HGNC WDR96 80217 genome.wustl.edu 37 10 105906095 105906095 + Missense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 10 105906095 105906095 C T SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.3781 p.E1261K 0.090 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC WNT5A 7474 genome.wustl.edu 37 3 55504018 55504018 + RNA SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 55504018 55504018 G A SNP WNT5A ENST00000493406 human ensembl 70_37 -1 known rna NULL NULL 0.538 - - - no_errors WNT5A HGNC WWC1 23286 genome.wustl.edu 37 5 167849048 167849048 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 5 167849048 167849048 G A SNP WWC1 ENST00000265293 human ensembl 70_37 +1 known missense c.1220 p.R407K 0.999 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC XPO6 23214 genome.wustl.edu 37 16 28187269 28187269 + Missense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 16 28187269 28187269 G A SNP XPO6 ENST00000304658 human ensembl 70_37 -1 known missense c.355 p.R119C 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ZBTB11 27107 genome.wustl.edu 37 3 101383876 101383876 + Nonsense_Mutation SNP G G A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 3 101383876 101383876 G A SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known nonsense c.1555 p.R519* 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ZBTB22 9278 genome.wustl.edu 37 6 33283917 33283917 + Silent SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 6 33283917 33283917 C T SNP ZBTB22 ENST00000418724 human ensembl 70_37 -1 known silent c.777 p.L259 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ZFYVE28 57732 genome.wustl.edu 37 4 2307163 2307163 + Nonsense_Mutation SNP C C A TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9825f84f-7b62-480c-9b58-3f461ea578d1 2e0e8f78-0cad-4515-861a-d81c76f98637 4 2307163 2307163 C A SNP ZFYVE28 ENST00000290974 human ensembl 70_37 -1 known nonsense c.904 p.G302* 0.004 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC