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 ABCC10 89845 genome.wustl.edu 37 6 43395875 43395875 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 43395875 43395875 G C SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known silent c.159 p.P53 0.738 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ABCC12 94160 genome.wustl.edu 37 16 48162555 48162555 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 48162555 48162555 C T SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known missense c.1330 p.E444K 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ACADSB 36 genome.wustl.edu 37 10 124800817 124800817 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 124800817 124800817 C T SNP ACADSB ENST00000358776 human ensembl 70_37 +1 known silent c.603 p.L201 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ADAM12 8038 genome.wustl.edu 37 10 127724832 127724832 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 127724832 127724832 C T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known silent c.2421 p.L807 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC AFF4 27125 genome.wustl.edu 37 5 132272780 132272780 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 132272780 132272780 G C SNP AFF4 ENST00000265343 human ensembl 70_37 -1 known silent c.102 p.L34 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC AMDHD2 51005 genome.wustl.edu 37 16 2581197 2581197 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 2581197 2581197 C T SNP AMDHD2 ENST00000565570 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AMDHD2 HGNC ANGPTL3 27329 genome.wustl.edu 37 1 63066839 63066839 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 63066839 63066839 G C SNP ANGPTL3 ENST00000371129 human ensembl 70_37 +1 known missense c.693 p.L231F 0.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL3 HGNC ANKRD30BL 554226 genome.wustl.edu 37 2 132919260 132919260 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 132919260 132919260 C T SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known missense c.19 p.A7T 0.407 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC APOBEC3H 164668 genome.wustl.edu 37 22 39497356 39497356 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 39497356 39497356 G T SNP APOBEC3H ENST00000442487 human ensembl 70_37 +1 known missense c.265 p.A89S 0.200 pfam_APOBEC_N,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ARAF 369 genome.wustl.edu 37 X 47426651 47426651 + Nonsense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 47426651 47426651 C G SNP ARAF ENST00000377045 human ensembl 70_37 +1 known nonsense c.896 p.S299* 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ARAP3 64411 genome.wustl.edu 37 5 141052872 141052872 + RNA SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 141052872 141052872 C A SNP ARAP3 ENST00000524066 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ARGFX 503582 genome.wustl.edu 37 3 121303884 121303884 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 121303884 121303884 G A SNP ARGFX ENST00000334384 human ensembl 70_37 +1 known missense c.341 p.R114K 0.037 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ARHGAP6 395 genome.wustl.edu 37 X 11162183 11162183 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 11162183 11162183 C G SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.2093 p.R698T 0.953 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARRDC2 27106 genome.wustl.edu 37 19 18121164 18121164 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 18121164 18121164 G C SNP ARRDC2 ENST00000222250 human ensembl 70_37 +1 known missense c.1009 p.E337Q 1.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ARRDC2 27106 genome.wustl.edu 37 19 18121476 18121476 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 18121476 18121476 G A SNP ARRDC2 ENST00000222250 human ensembl 70_37 +1 known missense c.1108 p.E370K 0.995 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ASB18 401036 genome.wustl.edu 37 2 237172927 237172927 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 237172927 237172927 T C SNP ASB18 ENST00000409749 human ensembl 70_37 -1 known missense c.62 p.K21R 0.882 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ASPM 259266 genome.wustl.edu 37 1 197071695 197071695 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 197071695 197071695 C G SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.6686 p.R2229T 0.798 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ATRX 546 genome.wustl.edu 37 X 76856127 76856127 + RNA SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 76856127 76856127 C A SNP ATRX ENST00000479487 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ATRX HGNC BACH1 571 genome.wustl.edu 37 21 30699443 30699443 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 21 30699443 30699443 C G SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1298 p.S433C 0.810 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC BCORL1 63035 genome.wustl.edu 37 X 129148261 129148261 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 129148261 129148261 G A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.1513 p.A505T 0.976 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BCORL1 63035 genome.wustl.edu 37 X 129148724 129148724 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 129148724 129148724 C A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.1976 p.S659Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BEST2 54831 genome.wustl.edu 37 19 12868679 12868679 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 12868679 12868679 G A SNP BEST2 ENST00000042931 human ensembl 70_37 +1 known missense c.1318 p.E440K 0.890 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC BRF1 2972 genome.wustl.edu 37 14 105685528 105685528 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 105685528 105685528 C T SNP BRF1 ENST00000546474 human ensembl 70_37 -1 known silent c.1419 p.L473 1.000 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC BTBD11 121551 genome.wustl.edu 37 12 107914403 107914403 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 107914403 107914403 C T SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known silent c.1275 p.I425 0.979 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC C12orf10 60314 genome.wustl.edu 37 12 53694044 53694044 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 53694044 53694044 G C SNP C12orf10 ENST00000267103 human ensembl 70_37 +1 novel missense c.327 p.Q109H 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC C12orf57 113246 genome.wustl.edu 37 12 7052786 7052786 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 7052786 7052786 G A SNP C12orf57 ENST00000542222 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors C12orf57 HGNC C14orf183 196913 genome.wustl.edu 37 14 50550713 50550713 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 50550713 50550713 C T SNP C14orf183 ENST00000305273 human ensembl 70_37 -1 novel missense c.631 p.E211K 0.000 NULL NULL - no_errors C14orf183 HGNC C19orf73 55150 genome.wustl.edu 37 19 49621985 49621985 + Nonsense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 49621985 49621985 G A SNP C19orf73 ENST00000408991 human ensembl 70_37 -1 known nonsense c.295 p.Q99* 0.002 NULL NULL - no_errors C19orf73 HGNC C22orf23 84645 genome.wustl.edu 37 22 38343409 38343409 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 38343409 38343409 C A SNP C22orf23 ENST00000249079 human ensembl 70_37 -1 known missense c.228 p.K76N 0.076 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC C6orf89 221477 genome.wustl.edu 37 6 36870110 36870110 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 36870110 36870110 C T SNP C6orf89 ENST00000355190 human ensembl 70_37 +1 known silent c.324 p.I108 0.992 NULL NULL - no_errors C6orf89 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100071801 100071801 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 100071801 100071801 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.307 p.E103K 0.090 NULL NULL - no_errors C9orf174 HGNC CACNA1B 774 genome.wustl.edu 37 9 140852116 140852116 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 140852116 140852116 G T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.1313 p.R438L 0.580 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1D 776 genome.wustl.edu 37 3 53707786 53707786 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 53707786 53707786 G C SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.1163 p.S388T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC CACNA1D 776 genome.wustl.edu 37 3 53844063 53844063 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 53844063 53844063 C T SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.5990 p.S1997L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC CAD 790 genome.wustl.edu 37 2 27466321 27466321 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 27466321 27466321 C T SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.6613 p.R2205C 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CCDC114 93233 genome.wustl.edu 37 19 48801323 48801323 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 48801323 48801323 A G SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.1325 p.L442P 0.290 NULL NULL - no_errors CCDC114 HGNC CCDC115 84317 genome.wustl.edu 37 2 131099622 131099622 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 131099622 131099622 C T SNP CCDC115 ENST00000442217 human ensembl 70_37 -1 known missense c.77 p.G26E 0.727 NULL NULL - no_errors CCDC115 HGNC CCP110 9738 genome.wustl.edu 37 16 19548708 19548708 + Missense_Mutation SNP A A T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 19548708 19548708 A T SNP CCP110 ENST00000381396 human ensembl 70_37 +1 known missense c.1717 p.N573Y 0.566 NULL NULL - no_errors CCP110 HGNC CELF5 60680 genome.wustl.edu 37 19 3282169 3282169 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 3282169 3282169 C G SNP CELF5 ENST00000292672 human ensembl 70_37 +1 known missense c.796 p.L266V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC CELSR1 9620 genome.wustl.edu 37 22 46780440 46780440 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 46780440 46780440 C G SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.6883 p.E2295Q 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,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 CELSR1 HGNC CELSR1 9620 genome.wustl.edu 37 22 46787540 46787540 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 46787540 46787540 G A SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known silent c.6138 p.L2046 0.000 smart_EGF_laminin,pfscan_EGF_laminin,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,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 CELSR1 HGNC CEPT1 10390 genome.wustl.edu 37 1 111703575 111703576 + RNA INS - - A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 111703575 111703576 - A INS CEPT1 ENST00000480324 human ensembl 70_37 +1 known rna NULL NULL 0.073:0.207 - - - no_errors CEPT1 HGNC CHRDL2 25884 genome.wustl.edu 37 11 74413902 74413902 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 74413902 74413902 G A SNP CHRDL2 ENST00000263671 human ensembl 70_37 -1 known missense c.1057 p.R353C 0.978 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC CLK3 1198 genome.wustl.edu 37 15 74912445 74912445 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 74912445 74912445 A G SNP CLK3 ENST00000395066 human ensembl 70_37 +1 known missense c.692 p.Y231C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK3 HGNC CSMD1 64478 genome.wustl.edu 37 8 4277554 4277554 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 4277554 4277554 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known silent c.336 p.V112 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSNK1G3 1456 genome.wustl.edu 37 5 122927040 122927040 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 122927040 122927040 G A SNP CSNK1G3 ENST00000360683 human ensembl 70_37 +1 known missense c.1018 p.D340N 1.000 pfam_Casein_kinase-1_gamma_C pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,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 CSNK1G3 HGNC CST1 1469 genome.wustl.edu 37 20 23729716 23729716 + Silent SNP T T A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 23729716 23729716 T A SNP CST1 ENST00000304749 human ensembl 70_37 -1 known silent c.279 p.I93 0.844 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC CST9L 128821 genome.wustl.edu 37 20 23545643 23545643 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 23545643 23545643 C G SNP CST9L ENST00000376979 human ensembl 70_37 -1 known missense c.386 p.R129T 0.001 pfam_Prot_inh_cystat pfam_Prot_inh_cystat - no_errors CST9L HGNC CTCF 10664 genome.wustl.edu 37 16 67660614 67660614 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 67660614 67660614 G C SNP CTCF ENST00000264010 human ensembl 70_37 +1 known missense c.1514 p.R505T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC CYP4Z2P 163720 genome.wustl.edu 37 1 47348924 47348924 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 47348924 47348924 G A SNP CYP4Z2P ENST00000505841 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors CYP4Z2P HGNC DAB1 1600 genome.wustl.edu 37 1 57481088 57481088 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 57481088 57481088 G A SNP DAB1 ENST00000371231 human ensembl 70_37 -1 known silent c.1011 p.G337 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB1 HGNC DBN1 1627 genome.wustl.edu 37 5 176886203 176886203 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 176886203 176886203 G A SNP DBN1 ENST00000292385 human ensembl 70_37 -1 known missense c.1028 p.S343F 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC DCAF8L2 347442 genome.wustl.edu 37 X 27765682 27765682 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 27765682 27765682 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.670 p.L224F 0.904 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,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC DCST1 149095 genome.wustl.edu 37 1 155014220 155014220 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 155014220 155014220 G T SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.779 p.R260L 0.065 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC DESI1 27351 genome.wustl.edu 37 22 42016793 42016793 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 42016793 42016793 G C SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel silent c.51 p.S17 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC DHX8 1659 genome.wustl.edu 37 17 41582013 41582013 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 41582013 41582013 G A SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known silent c.1548 p.A516 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC DMD 1756 genome.wustl.edu 37 X 32383310 32383310 + Nonsense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 32383310 32383310 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known nonsense c.4852 p.Q1618* 0.981 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH1 25981 genome.wustl.edu 37 3 52433158 52433158 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 52433158 52433158 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.12382 p.L4128V 0.495 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH7 56171 genome.wustl.edu 37 2 196722277 196722277 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 196722277 196722277 C T SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.8238 p.M2746I 0.953 superfamily_Signal_recog_particle_SRP9/14 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DPP6 1804 genome.wustl.edu 37 7 154379779 154379779 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 154379779 154379779 G C SNP DPP6 ENST00000406326 human ensembl 70_37 +1 putative missense c.1047 p.Q349H 0.000 NULL NULL - no_errors DPP6 HGNC DPP9 91039 genome.wustl.edu 37 19 4719937 4719937 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 4719937 4719937 C T SNP DPP9 ENST00000595940 human ensembl 70_37 -1 known rna NULL NULL 0.641 - - - no_errors DPP9 HGNC DUSP10 11221 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC EFHD1 80303 genome.wustl.edu 37 2 233527528 233527528 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 233527528 233527528 G A SNP EFHD1 ENST00000264059 human ensembl 70_37 +1 known missense c.319 p.D107N 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHD1 HGNC EHBP1 23301 genome.wustl.edu 37 2 63101602 63101602 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 63101602 63101602 C T SNP EHBP1 ENST00000263991 human ensembl 70_37 +1 known missense c.1225 p.P409S 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENOSF1 55556 genome.wustl.edu 37 18 677389 677389 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 677389 677389 C G SNP ENOSF1 ENST00000340116 human ensembl 70_37 -1 known silent c.1125 p.L375 1.000 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000254551 0 genome.wustl.edu 37 11 82921097 82921097 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 82921097 82921097 C T SNP ENSG00000254551 ENST00000531869 human ensembl 70_37 -1 known rna NULL NULL 0.960 - - - no_errors RP11-727A23.7 Clone_based_vega_gene ENSG00000256349 0 genome.wustl.edu 37 11 66291252 66291252 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 66291252 66291252 G A SNP ENSG00000256349 ENST00000419755 human ensembl 70_37 +1 known missense c.1120 p.E374K 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors BBS1 Uniprot_genename ENSG00000268069 0 genome.wustl.edu 37 12 48179194 48179194 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 48179194 48179194 G A SNP ENSG00000268069 ENST00000599515 human ensembl 70_37 +1 known missense c.278 p.R93K 0.961 NULL NULL - no_errors AC004466.1 Clone_based_ensembl_gene ENSG00000268467 0 genome.wustl.edu 37 11 107462600 107462600 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 107462600 107462600 G A SNP ENSG00000268467 ENST00000600612 human ensembl 70_37 +1 known silent c.117 p.G39 0.000 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENTHD1 150350 genome.wustl.edu 37 22 40161572 40161572 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 40161572 40161572 C T SNP ENTHD1 ENST00000325157 human ensembl 70_37 -1 known missense c.875 p.R292K 0.003 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC EPB41L1 2036 genome.wustl.edu 37 20 34763472 34763472 + Splice_Site SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 34763472 34763472 G C SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known splice_site c.178-1 e2-1 1.000 - - - no_errors EPB41L1 HGNC ERBB2 2064 genome.wustl.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 37880261 37880261 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.2305 p.D769H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom 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,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ETV5 2119 genome.wustl.edu 37 3 185766533 185766533 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 185766533 185766533 G A SNP ETV5 ENST00000537818 human ensembl 70_37 -1 known silent c.1554 p.S518 0.002 NULL pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC EYA1 2138 genome.wustl.edu 37 8 72128979 72128979 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 72128979 72128979 G A SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known silent c.1308 p.F436 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC FAM122B 159090 genome.wustl.edu 37 X 133922794 133922794 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 133922794 133922794 G A SNP FAM122B ENST00000343004 human ensembl 70_37 -1 known missense c.401 p.S134F 1.000 NULL NULL - no_errors FAM122B HGNC SUPT20H 55578 genome.wustl.edu 37 13 37605926 37605926 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 37605926 37605926 C G SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known missense c.814 p.E272Q 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC FBN2 2201 genome.wustl.edu 37 5 127641308 127641308 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 127641308 127641308 C T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.5569 p.G1857S 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBXO31 79791 genome.wustl.edu 37 16 87364921 87364921 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 87364921 87364921 G A SNP FBXO31 ENST00000311635 human ensembl 70_37 -1 known silent c.1593 p.L531 1.000 NULL 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 FBXO31 HGNC FCRL5 83416 genome.wustl.edu 37 1 157494309 157494309 + Missense_Mutation SNP T T A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 157494309 157494309 T A SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known missense c.1999 p.R667W 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC GABRB2 2561 genome.wustl.edu 37 5 160886733 160886733 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 160886733 160886733 C G SNP GABRB2 ENST00000274547 human ensembl 70_37 -1 known missense c.355 p.D119H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC GGA3 23163 genome.wustl.edu 37 17 73239158 73239158 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 73239158 73239158 C T SNP GGA3 ENST00000245541 human ensembl 70_37 -1 known missense c.514 p.E172K 1.000 pfscan_GAT pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC GMNN 51053 genome.wustl.edu 37 6 24784710 24784710 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 24784710 24784710 C G SNP GMNN ENST00000230056 human ensembl 70_37 +1 known silent c.396 p.A132 0.999 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC GNAQ 2776 genome.wustl.edu 37 9 80409438 80409438 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 80409438 80409438 T C SNP GNAQ ENST00000286548 human ensembl 70_37 -1 known missense c.676 p.I226V 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA - no_errors GNAQ HGNC GPKOW 27238 genome.wustl.edu 37 X 48972640 48972640 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 48972640 48972640 G A SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known silent c.951 p.L317 0.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC GPKOW 27238 genome.wustl.edu 37 X 48973411 48973411 + Nonsense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 48973411 48973411 C A SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known nonsense c.886 p.E296* 1.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC GPR124 25960 genome.wustl.edu 37 8 37696479 37696479 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 37696479 37696479 G C SNP GPR124 ENST00000412232 human ensembl 70_37 +1 known silent c.2265 p.L755 1.000 pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC GPR133 283383 genome.wustl.edu 37 12 131623878 131623878 + RNA SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 131623878 131623878 C A SNP GPR133 ENST00000540207 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GPR133 HGNC GPR98 84059 genome.wustl.edu 37 5 90006807 90006807 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 90006807 90006807 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.8834 p.G2945D 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GRID2IP 392862 genome.wustl.edu 37 7 6537475 6537475 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 6537475 6537475 C T SNP GRID2IP ENST00000457091 human ensembl 70_37 -1 putative missense c.3566 p.R1189Q 1.000 superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ - no_errors GRID2IP HGNC GSDMA 284110 genome.wustl.edu 37 17 38121988 38121988 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 38121988 38121988 C A SNP GSDMA ENST00000301659 human ensembl 70_37 +1 known missense c.48 p.N16K 0.995 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC GUCY1B2 2974 genome.wustl.edu 37 13 51599571 51599571 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 51599571 51599571 G A SNP GUCY1B2 ENST00000389600 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors GUCY1B2 HGNC GUCY2D 3000 genome.wustl.edu 37 17 7909952 7909952 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 7909952 7909952 G A SNP GUCY2D ENST00000254854 human ensembl 70_37 +1 known missense c.1298 p.R433Q 0.007 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2D HGNC HCRTR1 3061 genome.wustl.edu 37 1 32090632 32090632 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 32090632 32090632 G A SNP HCRTR1 ENST00000373706 human ensembl 70_37 +1 known missense c.1000 p.E334K 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC HEATR4 399671 genome.wustl.edu 37 14 73945456 73945456 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 73945456 73945456 T C SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2936 p.D979G 0.997 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27834864 27834864 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 27834864 27834864 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.444 p.A148 0.007 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HIST1H4C 8364 genome.wustl.edu 37 6 26104486 26104486 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 26104486 26104486 G A SNP HIST1H4C ENST00000377803 human ensembl 70_37 +1 known silent c.311 p.*104 0.258 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC HLA-DQA2 3118 genome.wustl.edu 37 6 32713607 32713607 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 32713607 32713607 C T SNP HLA-DQA2 ENST00000374940 human ensembl 70_37 +1 known missense c.371 p.T124M 0.664 pfam_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA2 HGNC HMGXB3 22993 genome.wustl.edu 37 5 149404045 149404045 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 149404045 149404045 C G SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known missense c.1262 p.S421C 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC HOXB7 3217 genome.wustl.edu 37 17 46687942 46687942 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 46687942 46687942 C T SNP HOXB7 ENST00000239165 human ensembl 70_37 -1 known silent c.339 p.Q113 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC HYDIN 54768 genome.wustl.edu 37 16 70969968 70969968 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 70969968 70969968 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.7042 p.E2348K 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC IFI35 3430 genome.wustl.edu 37 17 41165087 41165087 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 41165087 41165087 C T SNP IFI35 ENST00000438323 human ensembl 70_37 +1 known silent c.144 p.I48 0.001 pfam_Interferon_induced_35kDa_N pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC IFI35 3430 genome.wustl.edu 37 17 41165321 41165321 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 41165321 41165321 C G SNP IFI35 ENST00000438323 human ensembl 70_37 +1 known missense c.306 p.I102M 0.000 pfam_Nmi/IFP35 pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC IGSF9B 22997 genome.wustl.edu 37 11 133816074 133816074 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 133816074 133816074 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known silent c.144 p.I48 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC INPP1 3628 genome.wustl.edu 37 2 191235744 191235744 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 191235744 191235744 C G SNP INPP1 ENST00000322522 human ensembl 70_37 +1 known missense c.816 p.I272M 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC INSM1 3642 genome.wustl.edu 37 20 20350277 20350277 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 20350277 20350277 C G SNP INSM1 ENST00000310227 human ensembl 70_37 +1 known missense c.1366 p.Q456E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM1 HGNC JKAMP 51528 genome.wustl.edu 37 14 59953442 59953442 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 59953442 59953442 C G SNP JKAMP ENST00000555491 human ensembl 70_37 +1 known missense c.16 p.Q6E 1.000 NULL pfam_DUF766 - no_errors JKAMP HGNC JUND 3727 genome.wustl.edu 37 19 18391439 18391439 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 18391439 18391439 G A SNP JUND ENST00000252818 human ensembl 70_37 -1 known missense c.856 p.R286C 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC KANK1 23189 genome.wustl.edu 37 9 745203 745203 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 745203 745203 C G SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known missense c.4027 p.P1343A 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC KCNQ3 3786 genome.wustl.edu 37 8 133142219 133142219 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 133142219 133142219 C T SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known missense c.1909 p.D637N 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC KCTD2 23510 genome.wustl.edu 37 17 73045417 73045417 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 73045417 73045417 G A SNP KCTD2 ENST00000322444 human ensembl 70_37 +1 known missense c.442 p.E148K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC KCTD20 222658 genome.wustl.edu 37 6 36452603 36452604 + Splice_Site INS - - A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 36452603 36452604 - A INS KCTD20 ENST00000373731 human ensembl 70_37 +1 known splice_site_ins c.967+2_967+1 e6+2 1.000:0.447 - - - no_errors KCTD20 HGNC KDM3A 55818 genome.wustl.edu 37 2 86669240 86669240 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 86669240 86669240 G A SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.70 p.D24N 0.911 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC KIAA0100 9703 genome.wustl.edu 37 17 26955504 26955504 + Nonsense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 26955504 26955504 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known nonsense c.4373 p.W1458* 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39877564 39877564 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 39877564 39877564 C T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known silent c.1219 p.L407 1.000 NULL NULL - no_errors KIAA0754 HGNC KIAA1549L 25758 genome.wustl.edu 37 11 33564473 33564473 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 33564473 33564473 A G SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.473 p.E158G 0.839 NULL NULL - no_errors KIAA1549L HGNC KIAA1875 340390 genome.wustl.edu 37 8 145163767 145163767 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 145163767 145163767 C T SNP KIAA1875 ENST00000534167 human ensembl 70_37 +1 known silent c.798 p.F266 0.005 superfamily_WD40_repeat_dom 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 KIAA1875 HGNC KLHL8 57563 genome.wustl.edu 37 4 88084771 88084771 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 88084771 88084771 G A SNP KLHL8 ENST00000273963 human ensembl 70_37 -1 known missense c.1763 p.S588F 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC KRT2 3849 genome.wustl.edu 37 12 53045652 53045652 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 53045652 53045652 C T SNP KRT2 ENST00000309680 human ensembl 70_37 -1 known missense c.275 p.R92K 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC KRTAP19-8 728299 genome.wustl.edu 37 21 32410600 32410600 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 21 32410600 32410600 C T SNP KRTAP19-8 ENST00000382822 human ensembl 70_37 -1 known missense c.163 p.G55R 0.061 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-8 HGNC LAMP2 3920 genome.wustl.edu 37 X 119581704 119581704 + Nonsense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 119581704 119581704 G A SNP LAMP2 ENST00000434600 human ensembl 70_37 -1 known nonsense c.733 p.Q245* 0.293 pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC LCMT2 9836 genome.wustl.edu 37 15 43620819 43620819 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 43620819 43620819 C G SNP LCMT2 ENST00000305641 human ensembl 70_37 -1 known missense c.1869 p.L623F 0.992 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC LDB2 9079 genome.wustl.edu 37 4 16504717 16504717 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 16504717 16504717 G T SNP LDB2 ENST00000503178 human ensembl 70_37 -1 known missense c.557 p.A186E 0.357 NULL NULL - no_errors LDB2 HGNC LDLR 3949 genome.wustl.edu 37 19 11216264 11216264 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 11216264 11216264 G A SNP LDLR ENST00000558518 human ensembl 70_37 +1 known missense c.682 p.E228K 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LDLR HGNC LINC00281 26080 genome.wustl.edu 37 22 21663213 21663214 + RNA INS - - GA TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 22 21663213 21663214 - GA INS LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00281 HGNC LRRC38 126755 genome.wustl.edu 37 1 13839596 13839596 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 13839596 13839596 G A SNP LRRC38 ENST00000376085 human ensembl 70_37 -1 known missense c.493 p.R165C 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC MAGEA6 4105 genome.wustl.edu 37 X 151870004 151870004 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 151870004 151870004 G C SNP MAGEA6 ENST00000329342 human ensembl 70_37 +1 known missense c.694 p.E232Q 0.012 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC MIR600HG 81571 genome.wustl.edu 37 9 125876195 125876195 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 125876195 125876195 G C SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC MLIP 90523 genome.wustl.edu 37 6 54034338 54034338 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 54034338 54034338 C T SNP MLIP ENST00000274897 human ensembl 70_37 +1 known missense c.907 p.L303F 1.000 NULL NULL - no_errors MLIP HGNC MRGPRG 386746 genome.wustl.edu 37 11 3239921 3239921 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 3239921 3239921 G C SNP MRGPRG ENST00000332314 human ensembl 70_37 -1 known missense c.123 p.I41M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRG HGNC MT-ND6 4541 genome.wustl.edu 37 MT 14530 14531 + Frame_Shift_Ins INS - - C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 MT 14530 14531 - C INS MT-ND6 ENST00000361681 human ensembl 70_37 -1 known frame_shift_ins c.144_143 p.G49fs NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC MTRF1 9617 genome.wustl.edu 37 13 41834684 41834684 + Nonsense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 41834684 41834684 G T SNP MTRF1 ENST00000430347 human ensembl 70_37 -1 known nonsense c.399 p.Y133* 0.997 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC MUC16 94025 genome.wustl.edu 37 19 8976330 8976330 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 8976330 8976330 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.42498 p.L14166 0.310 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195513258 195513258 + Silent SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 195513258 195513258 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.5193 p.V1731 0.639 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50961953 50961953 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 50961953 50961953 C G SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.2448 p.I816M 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC MYH2 4620 genome.wustl.edu 37 17 10428320 10428320 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 10428320 10428320 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.4725 p.K1575 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYH3 4621 genome.wustl.edu 37 17 10532970 10532970 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 10532970 10532970 C T SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.5740 p.A1914T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYOC 4653 genome.wustl.edu 37 1 171605176 171605176 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 171605176 171605176 C T SNP MYOC ENST00000037502 human ensembl 70_37 -1 known silent c.1404 p.K468 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC NAALADL2 254827 genome.wustl.edu 37 3 175042010 175042010 + Missense_Mutation SNP T T C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 175042010 175042010 T C SNP NAALADL2 ENST00000454872 human ensembl 70_37 +1 known missense c.986 p.I329T 0.989 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC NAB2 4665 genome.wustl.edu 37 12 57485047 57485047 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 57485047 57485047 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.223 p.A75T 1.000 pfam_Nab_N,superfamily_SAM/pointed pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC NCR2 9436 genome.wustl.edu 37 6 41310655 41310655 + Splice_Site SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 41310655 41310655 G T SNP NCR2 ENST00000373086 human ensembl 70_37 +1 known splice_site c.681-1 e5-1 0.002 - - - no_errors NCR2 HGNC NGF 4803 genome.wustl.edu 37 1 115828996 115828996 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 115828996 115828996 C T SNP NGF ENST00000369512 human ensembl 70_37 -1 known missense c.421 p.V141M 0.996 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC NID2 22795 genome.wustl.edu 37 14 52509538 52509538 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 52509538 52509538 G C SNP NID2 ENST00000216286 human ensembl 70_37 -1 known missense c.1541 p.S514C 1.000 smart_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC NKX2-2 4821 genome.wustl.edu 37 20 21492887 21492887 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 21492887 21492887 G A SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known missense c.496 p.R166C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC OBSCN 84033 genome.wustl.edu 37 1 228400470 228400470 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 228400470 228400470 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.986 p.R329H 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OGDHL 55753 genome.wustl.edu 37 10 50944452 50944452 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 50944452 50944452 C T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known missense c.2705 p.R902Q 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC OPN1MW2 728458 genome.wustl.edu 37 X 153492789 153492789 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 153492789 153492789 G T SNP OPN1MW2 ENST00000369929 human ensembl 70_37 +1 known missense c.538 p.A180S 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW2 HGNC OR2T27 403239 genome.wustl.edu 37 1 248813636 248813636 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 248813636 248813636 G T SNP OR2T27 ENST00000344889 human ensembl 70_37 -1 known missense c.550 p.L184I 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC OR52H1 390067 genome.wustl.edu 37 11 5566286 5566286 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 5566286 5566286 G A SNP OR52H1 ENST00000322653 human ensembl 70_37 -1 known silent c.468 p.I156 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC OR56A4 120793 genome.wustl.edu 37 11 6024247 6024247 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 6024247 6024247 G A SNP OR56A4 ENST00000330728 human ensembl 70_37 -1 known silent c.132 p.V44 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC OR56B4 196335 genome.wustl.edu 37 11 6129931 6129931 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 6129931 6129931 A G SNP OR56B4 ENST00000316529 human ensembl 70_37 +1 known missense c.923 p.Q308R 0.014 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC OR7A5 26659 genome.wustl.edu 37 19 14938895 14938895 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 14938895 14938895 G A SNP OR7A5 ENST00000322301 human ensembl 70_37 -1 known silent c.159 p.S53 0.016 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A5 HGNC PAAF1 80227 genome.wustl.edu 37 11 73627672 73627672 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 73627672 73627672 G A SNP PAAF1 ENST00000310571 human ensembl 70_37 +1 known missense c.902 p.G301E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 PAAF1 HGNC PCDHB4 56131 genome.wustl.edu 37 5 140502562 140502562 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 140502562 140502562 G C SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known missense c.982 p.G328R 0.932 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 PCDHB4 HGNC PCYT1A 5130 genome.wustl.edu 37 3 195968876 195968876 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 195968876 195968876 C T SNP PCYT1A ENST00000292823 human ensembl 70_37 -1 known silent c.651 p.A217 0.677 NULL pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC PDIA6 10130 genome.wustl.edu 37 2 10959439 10959439 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 10959439 10959439 G C SNP PDIA6 ENST00000404371 human ensembl 70_37 -1 putative missense c.136 p.P46A 0.001 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC PDK4 5166 genome.wustl.edu 37 7 95219000 95219000 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 95219000 95219000 G A SNP PDK4 ENST00000005178 human ensembl 70_37 -1 known silent c.723 p.I241 0.453 superfamily_ATPase-like_ATP-bd pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC PDZRN3 23024 genome.wustl.edu 37 3 73453428 73453428 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 73453428 73453428 G A SNP PDZRN3 ENST00000263666 human ensembl 70_37 -1 known missense c.1037 p.T346M 0.988 superfamily_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC PHC2 1912 genome.wustl.edu 37 1 33837992 33837992 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 33837992 33837992 C G SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.231 p.Q77H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC PIGG 54872 genome.wustl.edu 37 4 502747 502747 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 502747 502747 G C SNP PIGG ENST00000453061 human ensembl 70_37 +1 known missense c.889 p.E297Q 0.998 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC PLCB2 5330 genome.wustl.edu 37 15 40589076 40589076 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 40589076 40589076 C T SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known missense c.1357 p.D453N 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC PLEKHO1 51177 genome.wustl.edu 37 1 150131110 150131110 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 150131110 150131110 C T SNP PLEKHO1 ENST00000369124 human ensembl 70_37 +1 known missense c.622 p.R208W 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC PLXNB3 5365 genome.wustl.edu 37 X 153039425 153039425 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 153039425 153039425 G T SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known missense c.3460 p.V1154L 0.092 superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC POFUT2 23275 genome.wustl.edu 37 21 46705580 46705580 + RNA SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 21 46705580 46705580 C G SNP POFUT2 ENST00000476653 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors POFUT2 HGNC POLR1A 25885 genome.wustl.edu 37 2 86257483 86257483 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 86257483 86257483 C G SNP POLR1A ENST00000263857 human ensembl 70_37 -1 known missense c.4615 p.D1539H 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC PPM1G 5496 genome.wustl.edu 37 2 27607771 27607771 + Missense_Mutation SNP T T G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 27607771 27607771 T G SNP PPM1G ENST00000344034 human ensembl 70_37 -1 known missense c.594 p.E198D 0.993 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1G HGNC PSG2 5670 genome.wustl.edu 37 19 43586776 43586776 + RNA SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 43586776 43586776 C T SNP PSG2 ENST00000491995 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG2 HGNC PTPRG 5793 genome.wustl.edu 37 3 62063909 62063909 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 62063909 62063909 G A SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known missense c.592 p.G198R 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC R3HCC1L 27291 genome.wustl.edu 37 10 99995795 99995795 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 99995795 99995795 G C SNP R3HCC1L ENST00000298999 human ensembl 70_37 +1 known missense c.2143 p.A715P 1.000 NULL NULL - no_errors R3HCC1L HGNC RABL6 55684 genome.wustl.edu 37 9 139733894 139733894 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 139733894 139733894 G T SNP RABL6 ENST00000371663 human ensembl 70_37 +1 known missense c.1717 p.D573Y 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC RAD21L1 642636 genome.wustl.edu 37 20 1223271 1223271 + Nonsense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 1223271 1223271 G T SNP RAD21L1 ENST00000409241 human ensembl 70_37 +1 known nonsense c.865 p.E289* 0.961 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC RBM39 9584 genome.wustl.edu 37 20 34326959 34326959 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 34326959 34326959 G C SNP RBM39 ENST00000487604 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors RBM39 HGNC RGS18 64407 genome.wustl.edu 37 1 192127615 192127615 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 192127615 192127615 G A SNP RGS18 ENST00000481707 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RGS18 HGNC RHCE 6006 genome.wustl.edu 37 1 25737867 25737867 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 25737867 25737867 G A SNP RHCE ENST00000374352 human ensembl 70_37 -1 known missense c.64 p.H22Y 0.002 superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCE HGNC RNF44 22838 genome.wustl.edu 37 5 175956299 175956299 + Frame_Shift_Del DEL T T - TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 175956299 175956299 T - DEL RNF44 ENST00000274811 human ensembl 70_37 -1 known frame_shift_del c.1226 p.K409fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ROPN1 54763 genome.wustl.edu 37 3 123699316 123699316 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 123699316 123699316 C T SNP ROPN1 ENST00000184183 human ensembl 70_37 -1 known missense c.13 p.D5N 0.981 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1 HGNC RPS13 6207 genome.wustl.edu 37 11 17098993 17098993 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 17098993 17098993 G C SNP RPS13 ENST00000525634 human ensembl 70_37 -1 known missense c.55 p.R19G 1.000 pfam_Ribosomal_S13/S15_N pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC RYR1 6261 genome.wustl.edu 37 19 39002929 39002929 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 39002929 39002929 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.9278 p.R3093H 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SACS 26278 genome.wustl.edu 37 13 23914001 23914001 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 13 23914001 23914001 C T SNP SACS ENST00000382292 human ensembl 70_37 -1 known silent c.4014 p.K1338 0.998 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SALL3 27164 genome.wustl.edu 37 18 76754968 76754968 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 76754968 76754968 G C SNP SALL3 ENST00000537592 human ensembl 70_37 +1 known missense c.2977 p.E993Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC SCG2 7857 genome.wustl.edu 37 2 224462894 224462894 + Silent SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 224462894 224462894 G C SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known silent c.1107 p.L369 0.010 pfam_Granin pfam_Granin - no_errors SCG2 HGNC SCN7A 6332 genome.wustl.edu 37 2 167266421 167266421 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 167266421 167266421 C T SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.3736 p.D1246N 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC SDCCAG8 10806 genome.wustl.edu 37 1 243652402 243652402 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 243652402 243652402 G C SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known missense c.2072 p.R691T 1.000 NULL NULL - no_errors SDCCAG8 HGNC SEC23A 10484 genome.wustl.edu 37 14 39514438 39514438 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 14 39514438 39514438 G C SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known missense c.1828 p.Q610E 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom 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 SEC23A HGNC SEC31A 22872 genome.wustl.edu 37 4 83778199 83778199 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 83778199 83778199 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.1787 p.A596V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SENP5 205564 genome.wustl.edu 37 3 196612651 196612651 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 196612651 196612651 G A SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known missense c.599 p.C200Y 0.985 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC SERPINA7 6906 genome.wustl.edu 37 X 105279118 105279118 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 105279118 105279118 C T SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known missense c.881 p.R294H 0.231 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC SERTAD3 29946 genome.wustl.edu 37 19 40947907 40947907 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 40947907 40947907 C G SNP SERTAD3 ENST00000322354 human ensembl 70_37 -1 known missense c.81 p.Q27H 0.447 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC SET 6418 genome.wustl.edu 37 9 131457120 131457120 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 131457120 131457120 G C SNP SET ENST00000494141 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SET HGNC SETBP1 26040 genome.wustl.edu 37 18 42532180 42532180 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 42532180 42532180 G A SNP SETBP1 ENST00000282030 human ensembl 70_37 +1 known missense c.2875 p.E959K 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC SEZ6 124925 genome.wustl.edu 37 17 27308731 27308731 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 27308731 27308731 C T SNP SEZ6 ENST00000317338 human ensembl 70_37 -1 known missense c.382 p.A128T 0.010 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC SLC12A5 57468 genome.wustl.edu 37 20 44670127 44670127 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 44670127 44670127 C A SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known missense c.1083 p.N361K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC SLC5A2 6524 genome.wustl.edu 37 16 31496157 31496157 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 31496157 31496157 C T SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known silent c.216 p.F72 0.997 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC SLIT2 9353 genome.wustl.edu 37 4 20618553 20618553 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 20618553 20618553 G T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.3868 p.V1290L 0.768 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SOX3 6658 genome.wustl.edu 37 X 139587210 139587210 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 139587210 139587210 C T SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known missense c.16 p.E6K 0.184 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC SPRED1 161742 genome.wustl.edu 37 15 38616984 38616984 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 15 38616984 38616984 G A SNP SPRED1 ENST00000299084 human ensembl 70_37 +1 known missense c.397 p.E133K 1.000 NULL pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC SPTA1 6708 genome.wustl.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 158606546 158606546 T G SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.5195 p.K1732T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC SRR 63826 genome.wustl.edu 37 17 2222189 2222189 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 2222189 2222189 G A SNP SRR ENST00000344595 human ensembl 70_37 +1 known missense c.365 p.G122E 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SRR HGNC SRRM2 23524 genome.wustl.edu 37 16 2815031 2815031 + Nonsense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 2815031 2815031 C G SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known nonsense c.4502 p.S1501* 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ST8SIA3 51046 genome.wustl.edu 37 18 55024435 55024435 + Missense_Mutation SNP A A C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 55024435 55024435 A C SNP ST8SIA3 ENST00000324000 human ensembl 70_37 +1 known missense c.594 p.Q198H 0.992 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC STXBP3 6814 genome.wustl.edu 37 1 109299362 109299362 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 109299362 109299362 C T SNP STXBP3 ENST00000370008 human ensembl 70_37 +1 known missense c.232 p.L78F 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC TCHH 7062 genome.wustl.edu 37 1 152085168 152085168 + Silent SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 152085168 152085168 C A SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.525 p.R175 0.282 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCHH 7062 genome.wustl.edu 37 1 152085169 152085169 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 152085169 152085169 C A SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.524 p.R175L 0.069 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TEX10 54881 genome.wustl.edu 37 9 103109309 103109309 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 103109309 103109309 A G SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.560 p.V187A 1.000 pfam_IPI1-like_dom,superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC TIMELESS 8914 genome.wustl.edu 37 12 56826872 56826872 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 56826872 56826872 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.469 p.E157Q 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TLR3 7098 genome.wustl.edu 37 4 187005261 187005261 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 4 187005261 187005261 C G SNP TLR3 ENST00000296795 human ensembl 70_37 +1 known missense c.2421 p.I807M 0.906 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC TMEM131 23505 genome.wustl.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 98409038 98409038 C G SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.3955 p.E1319Q 0.036 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC TMEM14B 81853 genome.wustl.edu 37 6 10749469 10749469 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 10749469 10749469 G C SNP TMEM14B ENST00000492297 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors TMEM14B HGNC TMEM14B 81853 genome.wustl.edu 37 6 10749477 10749477 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 10749477 10749477 G A SNP TMEM14B ENST00000492297 human ensembl 70_37 +1 known rna NULL NULL 0.913 - - - no_errors TMEM14B HGNC TMEM14B 81853 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC TMEM151B 441151 genome.wustl.edu 37 6 44240838 44240838 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 44240838 44240838 C T SNP TMEM151B ENST00000451188 human ensembl 70_37 +1 known silent c.171 p.L57 1.000 NULL NULL - no_errors TMEM151B HGNC TMEM18 129787 genome.wustl.edu 37 2 669621 669621 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 669621 669621 C G SNP TMEM18 ENST00000281017 human ensembl 70_37 -1 known missense c.382 p.E128Q 0.000 NULL NULL - no_errors TMEM18 HGNC TMEM182 130827 genome.wustl.edu 37 2 103431219 103431219 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 2 103431219 103431219 C T SNP TMEM182 ENST00000412401 human ensembl 70_37 +1 known missense c.482 p.S161L 0.453 NULL NULL - no_errors TMEM182 HGNC TMEM79 84283 genome.wustl.edu 37 1 156261440 156261440 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 156261440 156261440 C G SNP TMEM79 ENST00000357501 human ensembl 70_37 +1 known missense c.520 p.H174D 0.000 NULL NULL - no_errors TMEM79 HGNC TNPO1 3842 genome.wustl.edu 37 5 72196870 72196870 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 72196870 72196870 G T SNP TNPO1 ENST00000337273 human ensembl 70_37 +1 known missense c.2484 p.M828I 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC TOX 9760 genome.wustl.edu 37 8 59851877 59851877 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 59851877 59851877 G T SNP TOX ENST00000361421 human ensembl 70_37 -1 known missense c.395 p.S132Y 0.998 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC TP73 7161 genome.wustl.edu 37 1 3638614 3638614 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 3638614 3638614 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.459 p.C153 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TPD52L2 7165 genome.wustl.edu 37 20 62507208 62507208 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 20 62507208 62507208 G C SNP TPD52L2 ENST00000217121 human ensembl 70_37 +1 known missense c.354 p.E118D 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC TPR 7175 genome.wustl.edu 37 1 186292841 186292841 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 186292841 186292841 G C SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.6274 p.Q2092E 0.998 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TPSAB1 7177 genome.wustl.edu 37 16 1292149 1292149 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 1292149 1292149 G A SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known missense c.736 p.E246K 0.008 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC TSHZ1 10194 genome.wustl.edu 37 18 72998082 72998082 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 18 72998082 72998082 C T SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known silent c.720 p.F240 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC UHMK1 127933 genome.wustl.edu 37 1 162493066 162493066 + RNA SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 162493066 162493066 G C SNP UHMK1 ENST00000282169 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors UHMK1 HGNC USP17L2 377630 genome.wustl.edu 37 8 11995421 11995421 + Missense_Mutation SNP G G C TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 8 11995421 11995421 G C SNP USP17L2 ENST00000333796 human ensembl 70_37 -1 known missense c.849 p.F283L 0.045 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC USP44 84101 genome.wustl.edu 37 12 95912058 95912058 + Missense_Mutation SNP A A G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 12 95912058 95912058 A G SNP USP44 ENST00000258499 human ensembl 70_37 -1 known missense c.2011 p.Y671H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP44 HGNC VAV3 10451 genome.wustl.edu 37 1 108116734 108116734 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 108116734 108116734 C G SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known missense c.2437 p.D813H 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC VIP 7432 genome.wustl.edu 37 6 153073374 153073374 + Nonsense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 153073374 153073374 C G SNP VIP ENST00000367244 human ensembl 70_37 +1 known nonsense c.62 p.S21* 0.995 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC VMP1 81671 genome.wustl.edu 37 17 57915729 57915729 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 17 57915729 57915729 C T SNP VMP1 ENST00000262291 human ensembl 70_37 +1 known missense c.1048 p.H350Y 1.000 NULL NULL - no_errors VMP1 HGNC WDFY4 57705 genome.wustl.edu 37 10 49934112 49934112 + Nonsense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 10 49934112 49934112 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known nonsense c.778 p.Q260* 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR31 114987 genome.wustl.edu 37 9 116082750 116082750 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 9 116082750 116082750 C G SNP WDR31 ENST00000374193 human ensembl 70_37 -1 known missense c.667 p.A223P 1.000 superfamily_WD40_repeat_dom,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 WDR31 HGNC WDR64 128025 genome.wustl.edu 37 1 241875110 241875110 + Silent SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 241875110 241875110 C G SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known silent c.951 p.V317 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC XIRP1 165904 genome.wustl.edu 37 3 39228399 39228399 + Silent SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 3 39228399 39228399 C T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known silent c.2538 p.L846 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC XIST 7503 genome.wustl.edu 37 X 73046247 73046247 + RNA SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 73046247 73046247 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ZBTB33 10009 genome.wustl.edu 37 X 119388943 119388943 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 119388943 119388943 C T SNP ZBTB33 ENST00000326624 human ensembl 70_37 +1 known missense c.1673 p.S558F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ZCCHC11 23318 genome.wustl.edu 37 1 52926879 52926879 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 1 52926879 52926879 C G SNP ZCCHC11 ENST00000257177 human ensembl 70_37 -1 known missense c.3248 p.R1083T 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ZDHHC11 79844 genome.wustl.edu 37 5 850645 850645 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 5 850645 850645 G A SNP ZDHHC11 ENST00000283441 human ensembl 70_37 -1 known missense c.73 p.P25S 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ZDHHC13 54503 genome.wustl.edu 37 11 19197384 19197384 + Silent SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 11 19197384 19197384 G A SNP ZDHHC13 ENST00000446113 human ensembl 70_37 +1 known silent c.1746 p.Q582 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ZFHX3 463 genome.wustl.edu 37 16 72822199 72822199 + Missense_Mutation SNP C C T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 16 72822199 72822199 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.9976 p.A3326T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZNF568 374900 genome.wustl.edu 37 19 37413710 37413710 + Missense_Mutation SNP T T G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 37413710 37413710 T G SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.38 p.V13G 0.627 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 ZNF568 HGNC ZNF626 199777 genome.wustl.edu 37 19 20808330 20808330 + Missense_Mutation SNP A A T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 20808330 20808330 A T SNP ZNF626 ENST00000601440 human ensembl 70_37 -1 known missense c.353 p.I118K 0.085 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 ZNF626 HGNC ZNF630 57232 genome.wustl.edu 37 X 47919232 47919232 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 X 47919232 47919232 C A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.599 p.R200I 0.505 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 ZNF630 HGNC ZNF701 55762 genome.wustl.edu 37 19 53077398 53077398 + Missense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 53077398 53077398 G T SNP ZNF701 ENST00000301093 human ensembl 70_37 +1 known missense c.196 p.G66W 0.001 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 ZNF701 HGNC ZNF804B 219578 genome.wustl.edu 37 7 88966314 88966314 + Nonsense_Mutation SNP G G T TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 7 88966314 88966314 G T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known nonsense c.4018 p.E1340* 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF813 126017 genome.wustl.edu 37 19 53993928 53993928 + Missense_Mutation SNP C C G TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 53993928 53993928 C G SNP ZNF813 ENST00000396403 human ensembl 70_37 +1 known missense c.442 p.L148V 0.327 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 ZNF813 HGNC ZNF99 7652 genome.wustl.edu 37 19 22942361 22942361 + Missense_Mutation SNP C C A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 19 22942361 22942361 C A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.413 p.C138F 0.505 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 ZNF99 HGNC ZSCAN23 222696 genome.wustl.edu 37 6 28402379 28402379 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 956cb80b-81d3-4f19-9b71-cb636dc91845 22622949-a302-41a5-be56-040320a61c74 6 28402379 28402379 G A SNP ZSCAN23 ENST00000289788 human ensembl 70_37 -1 known missense c.1033 p.R345C 0.041 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC