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 ABCA12 26154 genome.wustl.edu 37 2 215819966 215819966 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 215819966 215819966 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.6353 p.S2118L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA8 10351 genome.wustl.edu 37 17 66890334 66890334 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 66890334 66890334 C G SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known missense c.3016 p.E1006Q 0.370 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ACACB 32 genome.wustl.edu 37 12 109654655 109654655 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 109654655 109654655 C T SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.3494 p.S1165F 0.998 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ACOX2 8309 genome.wustl.edu 37 3 58516240 58516240 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 58516240 58516240 G A SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known silent c.945 p.I315 0.998 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ACTL10 170487 genome.wustl.edu 37 20 32256040 32256040 + Nonstop_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 32256040 32256040 G C SNP ACTL10 ENST00000330271 human ensembl 70_37 +1 putative nonstop c.737 p.*246S 0.998 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTL10 HGNC ACTN4 81 genome.wustl.edu 37 19 39219659 39219659 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 39219659 39219659 C T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2442 p.I814 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ACTN4 81 genome.wustl.edu 37 19 39219713 39219713 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 39219713 39219713 C T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known silent c.2496 p.I832 0.987 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ACTN4 81 genome.wustl.edu 37 19 39219929 39219929 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 39219929 39219929 G T SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known nonsense c.2593 p.E865* 0.999 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ADAM10 102 genome.wustl.edu 37 15 59009816 59009816 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 59009816 59009816 C T SNP ADAM10 ENST00000260408 human ensembl 70_37 -1 known missense c.166 p.E56K 1.000 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ADAMTS1 9510 genome.wustl.edu 37 21 28210431 28210431 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 21 28210431 28210431 C A SNP ADAMTS1 ENST00000284984 human ensembl 70_37 -1 known missense c.2371 p.D791Y 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ADAMTS14 140766 genome.wustl.edu 37 10 72462221 72462221 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 72462221 72462221 G A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.676 p.E226K 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5306693 5306693 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 5306693 5306693 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.3263 p.R1088Q 0.918 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ADAMTS4 9507 genome.wustl.edu 37 1 161166037 161166037 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 161166037 161166037 G C SNP ADAMTS4 ENST00000367996 human ensembl 70_37 -1 known silent c.1014 p.V338 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ADAT1 23536 genome.wustl.edu 37 16 75642774 75642774 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 75642774 75642774 C G SNP ADAT1 ENST00000307921 human ensembl 70_37 -1 known missense c.1156 p.D386H 0.008 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ADCY9 115 genome.wustl.edu 37 16 4016390 4016390 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 4016390 4016390 C G SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.3448 p.D1150H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC AGPAT6 137964 genome.wustl.edu 37 8 41469775 41469775 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 41469775 41469775 G A SNP AGPAT6 ENST00000396987 human ensembl 70_37 +1 known missense c.778 p.D260N 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC AIMP2 7965 genome.wustl.edu 37 7 6054882 6054882 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 6054882 6054882 C G SNP AIMP2 ENST00000223029 human ensembl 70_37 +1 known missense c.241 p.Q81E 1.000 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC AKAP1 8165 genome.wustl.edu 37 17 55183327 55183327 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 55183327 55183327 G C SNP AKAP1 ENST00000337714 human ensembl 70_37 +1 known missense c.502 p.D168H 0.126 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC AMOTL1 154810 genome.wustl.edu 37 11 94533423 94533423 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 94533423 94533423 G A SNP AMOTL1 ENST00000433060 human ensembl 70_37 +1 known missense c.1067 p.R356K 0.987 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ANKS6 203286 genome.wustl.edu 37 9 101546366 101546366 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 101546366 101546366 C T SNP ANKS6 ENST00000375018 human ensembl 70_37 -1 known silent c.981 p.A327 0.206 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ANO6 196527 genome.wustl.edu 37 12 45725117 45725117 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 45725117 45725117 G A SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.190 p.D64N 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ANO6 196527 genome.wustl.edu 37 12 45725130 45725130 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 45725130 45725130 G A SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.203 p.R68K 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC APBB1IP 54518 genome.wustl.edu 37 10 26856371 26856371 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 26856371 26856371 C G SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known nonsense c.1955 p.S652* 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC APOB 338 genome.wustl.edu 37 2 21233619 21233619 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 21233619 21233619 C G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.6121 p.E2041Q 0.002 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC AQP10 89872 genome.wustl.edu 37 1 154296858 154296858 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 154296858 154296858 G A SNP AQP10 ENST00000324978 human ensembl 70_37 +1 known missense c.808 p.E270K 1.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC AQP8 343 genome.wustl.edu 37 16 25232864 25232864 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 25232864 25232864 C T SNP AQP8 ENST00000219660 human ensembl 70_37 +1 known missense c.347 p.S116L 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ARFGAP1 55738 genome.wustl.edu 37 20 61918992 61918992 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 61918992 61918992 G A SNP ARFGAP1 ENST00000353546 human ensembl 70_37 +1 known missense c.1012 p.E338K 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ARHGEF3 50650 genome.wustl.edu 37 3 56766438 56766438 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 56766438 56766438 G A SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known silent c.1152 p.F384 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ARID1A 8289 genome.wustl.edu 37 1 27059194 27059194 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 27059194 27059194 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1831 p.Q611* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID1A 8289 genome.wustl.edu 37 1 27100988 27100988 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 27100988 27100988 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.4270 p.Q1424* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ASH1L 55870 genome.wustl.edu 37 1 155319338 155319338 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 155319338 155319338 C T SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known silent c.7431 p.K2477 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ATAD2 29028 genome.wustl.edu 37 8 124383164 124383164 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 124383164 124383164 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known missense c.706 p.D236N 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATAD3B 83858 genome.wustl.edu 37 1 1421179 1421179 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 1421179 1421179 C T SNP ATAD3B ENST00000308647 human ensembl 70_37 +1 known silent c.924 p.L308 0.856 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ATF4 468 genome.wustl.edu 37 22 39918236 39918236 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 39918236 39918236 C G SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known missense c.685 p.L229V 0.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ATF4P4 100127952 genome.wustl.edu 37 11 113661424 113661424 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 113661424 113661424 G A SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 0.686 - - - no_errors ATF4P4 HGNC ATM 472 genome.wustl.edu 37 11 108160402 108160402 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 108160402 108160402 G A SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.4310 p.R1437K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATP5L2 267020 genome.wustl.edu 37 22 43036172 43036172 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 43036172 43036172 C T SNP ATP5L2 ENST00000505920 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met - no_errors ATP5L2 HGNC ATP8B2 57198 genome.wustl.edu 37 1 154310131 154310131 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 154310131 154310131 C T SNP ATP8B2 ENST00000368487 human ensembl 70_37 +1 known missense c.1145 p.S382F 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom - no_errors ATP8B2 HGNC AVPR1A 552 genome.wustl.edu 37 12 63544014 63544014 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 63544014 63544014 G A SNP AVPR1A ENST00000299178 human ensembl 70_37 -1 known silent c.603 p.R201 0.885 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC BDP1 55814 genome.wustl.edu 37 5 70806208 70806208 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 70806208 70806208 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.3289 p.E1097K 0.031 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BIN1 274 genome.wustl.edu 37 2 127827588 127827588 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 127827588 127827588 G A SNP BIN1 ENST00000316724 human ensembl 70_37 -1 known nonsense c.394 p.Q132* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC BMP15 9210 genome.wustl.edu 37 X 50659449 50659449 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 50659449 50659449 C G SNP BMP15 ENST00000252677 human ensembl 70_37 +1 known missense c.1021 p.Q341E 0.999 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC BRWD1 54014 genome.wustl.edu 37 21 40630548 40630548 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 21 40630548 40630548 C G SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.1936 p.D646H 0.928 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BSG 682 genome.wustl.edu 37 19 581370 581370 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 581370 581370 C G SNP BSG ENST00000333511 human ensembl 70_37 +1 known nonsense c.848 p.S283* 0.159 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BTNL3 10917 genome.wustl.edu 37 5 180431735 180431735 + Splice_Site SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 180431735 180431735 G A SNP BTNL3 ENST00000342868 human ensembl 70_37 +1 known splice_site c.836-1 e7-1 0.680 - - - no_errors BTNL3 HGNC C11orf24 53838 genome.wustl.edu 37 11 68031153 68031153 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 68031153 68031153 C T SNP C11orf24 ENST00000530166 human ensembl 70_37 -1 known rna NULL NULL 0.760 - - - no_errors C11orf24 HGNC C18orf8 29919 genome.wustl.edu 37 18 21109337 21109337 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 18 21109337 21109337 C T SNP C18orf8 ENST00000591367 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C18orf8 HGNC C1orf173 127254 genome.wustl.edu 37 1 75037649 75037649 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 75037649 75037649 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.3745 p.D1249N 0.000 NULL NULL - no_errors C1orf173 HGNC C1orf226 400793 genome.wustl.edu 37 1 162353076 162353076 + Nonsense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 162353076 162353076 C A SNP C1orf226 ENST00000426197 human ensembl 70_37 +1 known nonsense c.551 p.S184* 0.113 NULL NULL - no_errors C1orf226 HGNC MROH8 140699 genome.wustl.edu 37 20 35749320 35749320 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 35749320 35749320 C T SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.2096 p.G699E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC C2orf76 130355 genome.wustl.edu 37 2 120069238 120069238 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 120069238 120069238 G C SNP C2orf76 ENST00000334816 human ensembl 70_37 -1 known silent c.264 p.L88 0.982 pfam_UPF0538 pfam_UPF0538 - no_errors C2orf76 HGNC C3orf14 57415 genome.wustl.edu 37 3 62317015 62317015 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 62317015 62317015 G A SNP C3orf14 ENST00000232519 human ensembl 70_37 +1 known missense c.193 p.E65K 0.997 NULL NULL - no_errors C3orf14 HGNC C3orf36 80111 genome.wustl.edu 37 3 133647582 133647582 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 133647582 133647582 G A SNP C3orf36 ENST00000408895 human ensembl 70_37 -1 known silent c.66 p.L22 0.001 NULL NULL - no_errors C3orf36 HGNC C4B 721 genome.wustl.edu 37 6 31997361 31997361 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 31997361 31997361 C T SNP C4B ENST00000435363 human ensembl 70_37 +1 known missense c.3695 p.S1232L 0.018 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C4B HGNC C7orf10 79783 genome.wustl.edu 37 7 40220584 40220584 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 40220584 40220584 C G SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known missense c.160 p.L54V 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC CABP2 51475 genome.wustl.edu 37 11 67288598 67288598 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 67288598 67288598 C G SNP CABP2 ENST00000294288 human ensembl 70_37 -1 known missense c.277 p.D93H 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC CACNA1B 774 genome.wustl.edu 37 9 140970329 140970329 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 140970329 140970329 G A SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.4919 p.R1640Q 0.959 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1 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 CACNA2D3 55799 genome.wustl.edu 37 3 55108242 55108242 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 55108242 55108242 G A SNP CACNA2D3 ENST00000478261 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors CACNA2D3 HGNC CBLC 23624 genome.wustl.edu 37 19 45281228 45281228 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 45281228 45281228 G A SNP CBLC ENST00000270279 human ensembl 70_37 +1 known missense c.40 p.E14K 0.004 pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC CBX1 10951 genome.wustl.edu 37 17 46153372 46153372 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 46153372 46153372 C A SNP CBX1 ENST00000225603 human ensembl 70_37 -1 known missense c.309 p.K103N 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC CBX1 10951 genome.wustl.edu 37 17 46153539 46153539 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 46153539 46153539 C G SNP CBX1 ENST00000225603 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC CCDC110 256309 genome.wustl.edu 37 4 186379879 186379879 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 186379879 186379879 C G SNP CCDC110 ENST00000307588 human ensembl 70_37 -1 known missense c.1862 p.R621T 0.000 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC CCDC130 81576 genome.wustl.edu 37 19 13869865 13869865 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 13869865 13869865 G A SNP CCDC130 ENST00000589096 human ensembl 70_37 +1 putative silent c.144 p.L48 0.000 NULL pfam_CWC16 - no_errors CCDC130 HGNC CCDC37 348807 genome.wustl.edu 37 3 126139026 126139026 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 126139026 126139026 C T SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known nonsense c.1039 p.Q347* 0.013 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CD48 962 genome.wustl.edu 37 1 160651194 160651194 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 160651194 160651194 C T SNP CD48 ENST00000368046 human ensembl 70_37 -1 known silent c.450 p.L150 0.026 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD48 HGNC CDC14B 8555 genome.wustl.edu 37 9 99380952 99380952 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 99380952 99380952 G C SNP CDC14B ENST00000463547 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC14B HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227335194 227335194 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 227335194 227335194 C G SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.760 p.D254H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC CDH3 1001 genome.wustl.edu 37 16 68725654 68725654 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 68725654 68725654 C T SNP CDH3 ENST00000264012 human ensembl 70_37 +1 known silent c.1827 p.F609 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC CHD7 55636 genome.wustl.edu 37 8 61765139 61765139 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 61765139 61765139 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.5977 p.D1993H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHMP2B 25978 genome.wustl.edu 37 3 87302861 87302861 + Splice_Site SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 87302861 87302861 G C SNP CHMP2B ENST00000263780 human ensembl 70_37 +1 known splice_site c.532-1 e6-1 1.000 - - - no_errors CHMP2B HGNC CHMP2B 25978 genome.wustl.edu 37 3 87302931 87302931 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 87302931 87302931 G A SNP CHMP2B ENST00000263780 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 NULL pfam_Snf7 - no_errors CHMP2B HGNC CHPT1 56994 genome.wustl.edu 37 12 102120186 102120186 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 102120186 102120186 C T SNP CHPT1 ENST00000549128 human ensembl 70_37 +1 known missense c.1180 p.H394Y 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC CHUK 1147 genome.wustl.edu 37 10 101953849 101953849 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 101953849 101953849 G A SNP CHUK ENST00000370397 human ensembl 70_37 -1 known silent c.1866 p.L622 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC CLDN18 51208 genome.wustl.edu 37 3 137717751 137717751 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 137717751 137717751 C T SNP CLDN18 ENST00000343735 human ensembl 70_37 +1 known missense c.41 p.S14L 0.252 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC CLEC11A 6320 genome.wustl.edu 37 19 51228588 51228588 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 51228588 51228588 C T SNP CLEC11A ENST00000250340 human ensembl 70_37 +1 known missense c.836 p.S279L 0.639 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC CLSTN3 9746 genome.wustl.edu 37 12 7301773 7301773 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 7301773 7301773 G T SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.2053 p.D685Y 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC CLUL1 27098 genome.wustl.edu 37 18 619248 619248 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 18 619248 619248 G A SNP CLUL1 ENST00000338387 human ensembl 70_37 +1 known missense c.142 p.E48K 1.000 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC CNKSR3 154043 genome.wustl.edu 37 6 154727587 154727587 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 154727587 154727587 C T SNP CNKSR3 ENST00000367213 human ensembl 70_37 -1 known silent c.1569 p.G523 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC CNTNAP3 79937 genome.wustl.edu 37 9 39176011 39176011 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 39176011 39176011 G A SNP CNTNAP3 ENST00000297668 human ensembl 70_37 -1 known missense c.1006 p.L336F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC CNTRL 11064 genome.wustl.edu 37 9 123917084 123917084 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 123917084 123917084 G C SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.4258 p.E1420Q 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COX4I2 84701 genome.wustl.edu 37 20 30226891 30226891 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 30226891 30226891 C G SNP COX4I2 ENST00000376075 human ensembl 70_37 +1 known nonsense c.71 p.S24* 0.929 NULL pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC CPSF3L 54973 genome.wustl.edu 37 1 1256019 1256019 + Nonstop_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 1256019 1256019 C G SNP CPSF3L ENST00000531019 human ensembl 70_37 -1 known nonstop c.170 p.*57S 0.030 NULL NULL - no_errors CPSF3L HGNC CRH 1392 genome.wustl.edu 37 8 67089290 67089290 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 67089290 67089290 G C SNP CRH ENST00000276571 human ensembl 70_37 -1 known silent c.423 p.L141 0.039 NULL pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF - no_errors CRH HGNC CSTF2 1478 genome.wustl.edu 37 X 100088222 100088222 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 100088222 100088222 G T SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known nonsense c.1321 p.E441* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC CTAGE4 100128553 genome.wustl.edu 37 7 143882559 143882559 + Missense_Mutation SNP A A G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 143882559 143882559 A G SNP CTAGE4 ENST00000486333 human ensembl 70_37 +1 known missense c.1963 p.R655G 0.062 NULL superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC CTNNA3 29119 genome.wustl.edu 37 10 69407184 69407184 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 69407184 69407184 G C SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.88 p.L30V 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC CXorf21 80231 genome.wustl.edu 37 X 30577710 30577710 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 30577710 30577710 G A SNP CXorf21 ENST00000378962 human ensembl 70_37 -1 known nonsense c.763 p.Q255* 0.990 NULL NULL - no_errors CXorf21 HGNC DCAF6 55827 genome.wustl.edu 37 1 167973897 167973897 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 167973897 167973897 C T SNP DCAF6 ENST00000367840 human ensembl 70_37 +1 known missense c.1244 p.S415F 0.986 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC DCP1A 55802 genome.wustl.edu 37 3 53346369 53346369 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 53346369 53346369 G A SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 0.811 - - - no_errors DCP1A HGNC DDHD1 80821 genome.wustl.edu 37 14 53522414 53522414 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 53522414 53522414 C T SNP DDHD1 ENST00000323669 human ensembl 70_37 -1 known missense c.2209 p.E737K 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC DGCR8 54487 genome.wustl.edu 37 22 20074120 20074120 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 20074120 20074120 G C SNP DGCR8 ENST00000351989 human ensembl 70_37 +1 known missense c.634 p.D212H 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC DLG3 1741 genome.wustl.edu 37 X 69699014 69699014 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 69699014 69699014 G C SNP DLG3 ENST00000194900 human ensembl 70_37 +1 known missense c.1474 p.E492Q 1.000 superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC DMRT2 10655 genome.wustl.edu 37 9 1053808 1053808 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 1053808 1053808 C G SNP DMRT2 ENST00000302441 human ensembl 70_37 +1 known silent c.612 p.A204 1.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC DMXL1 1657 genome.wustl.edu 37 5 118560455 118560455 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 118560455 118560455 C G SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.8329 p.L2777V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC DNAH2 146754 genome.wustl.edu 37 17 7701881 7701881 + Nonsense_Mutation SNP A A T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 7701881 7701881 A T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known nonsense c.8404 p.K2802* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH9 1770 genome.wustl.edu 37 17 11573101 11573101 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 11573101 11573101 G A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.3343 p.V1115I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DNAJB6 10049 genome.wustl.edu 37 7 157160168 157160168 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 157160168 157160168 G C SNP DNAJB6 ENST00000262177 human ensembl 70_37 +1 known missense c.337 p.D113H 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB6 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132184866 132184866 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 132184866 132184866 C T SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known silent c.1920 p.L640 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNAJC16 23341 genome.wustl.edu 37 1 15863294 15863294 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 15863294 15863294 G T SNP DNAJC16 ENST00000375847 human ensembl 70_37 +1 known nonsense c.559 p.E187* 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC16 HGNC DOCK1 1793 genome.wustl.edu 37 10 129216661 129216661 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 129216661 129216661 G A SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known silent c.4485 p.E1495 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DOCK10 55619 genome.wustl.edu 37 2 225729288 225729288 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 225729288 225729288 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.1584 p.K528N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOCK8 81704 genome.wustl.edu 37 9 418177 418177 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 418177 418177 G A SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known silent c.3810 p.L1270 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOT1L 84444 genome.wustl.edu 37 19 2226332 2226332 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 2226332 2226332 C T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known missense c.3812 p.S1271F 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC DSCAM 1826 genome.wustl.edu 37 21 41684283 41684283 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 21 41684283 41684283 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.1787 p.P596L 0.999 pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC DUOXA1 90527 genome.wustl.edu 37 15 45411371 45411371 + Nonsense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 45411371 45411371 G C SNP DUOXA1 ENST00000267803 human ensembl 70_37 -1 known nonsense c.965 p.S322* 0.996 NULL pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC DUSP11 8446 genome.wustl.edu 37 2 74007169 74007169 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 74007169 74007169 C A SNP DUSP11 ENST00000272444 human ensembl 70_37 -1 known missense c.74 p.G25V 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors DUSP11 HGNC DUSP15 128853 genome.wustl.edu 37 20 30436311 30436311 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 30436311 30436311 G A SNP DUSP15 ENST00000278979 human ensembl 70_37 -1 known missense c.784 p.R262C 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC DUSP5 1847 genome.wustl.edu 37 10 112262487 112262487 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 112262487 112262487 G A SNP DUSP5 ENST00000369583 human ensembl 70_37 +1 known missense c.388 p.E130K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC EIF5B 9669 genome.wustl.edu 37 2 99992929 99992929 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 99992929 99992929 G A SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known missense c.1672 p.E558K 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC EML3 256364 genome.wustl.edu 37 11 62370341 62370341 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 62370341 62370341 C T SNP EML3 ENST00000394773 human ensembl 70_37 -1 known missense c.2377 p.D793N 0.999 superfamily_Quinonprotein_ADH-like pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENPP4 22875 genome.wustl.edu 37 6 46107443 46107443 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 46107443 46107443 G A SNP ENPP4 ENST00000321037 human ensembl 70_37 +1 known silent c.123 p.L41 0.007 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000236467 0 genome.wustl.edu 37 10 78649349 78649349 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 78649349 78649349 G C SNP ENSG00000236467 ENST00000595702 human ensembl 70_37 +1 known rna NULL NULL 0.911 - - - no_errors RP11-443A13.5 Clone_based_vega_gene ENSG00000236467 0 genome.wustl.edu 37 10 78649362 78649362 + RNA SNP T T C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 78649362 78649362 T C SNP ENSG00000236467 ENST00000595702 human ensembl 70_37 +1 known rna NULL NULL 0.276 - - - no_errors RP11-443A13.5 Clone_based_vega_gene ENSG00000245281 0 genome.wustl.edu 37 8 17944402 17944402 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 17944402 17944402 G A SNP ENSG00000245281 ENST00000499554 human ensembl 70_37 +1 known rna NULL NULL 0.834 - - - no_errors CTD-2547L16.1 Clone_based_vega_gene ENSG00000255737 0 genome.wustl.edu 37 12 58121432 58121432 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 58121432 58121432 C T SNP ENSG00000255737 ENST00000542466 human ensembl 70_37 +1 putative silent c.657 p.L219 0.000 NULL NULL - no_errors RP11-571M6.6 Clone_based_vega_gene ENSG00000259618 0 genome.wustl.edu 37 15 50789248 50789248 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 50789248 50789248 G A SNP ENSG00000259618 ENST00000560159 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-562A8.5 Clone_based_vega_gene EPB41L1 2036 genome.wustl.edu 37 20 34797677 34797677 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 34797677 34797677 G A SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known missense c.1936 p.D646N 1.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC EPHA5 2044 genome.wustl.edu 37 4 66231719 66231719 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 66231719 66231719 G A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known nonsense c.1981 p.Q661* 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC EXOSC1 51013 genome.wustl.edu 37 10 99203046 99203046 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 99203046 99203046 C G SNP EXOSC1 ENST00000370902 human ensembl 70_37 -1 known missense c.170 p.R57T 1.000 superfamily_NA-bd_OB-fold-like pfam_EXOSC1,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1 - no_errors EXOSC1 HGNC EXPH5 23086 genome.wustl.edu 37 11 108380360 108380360 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 108380360 108380360 G A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known silent c.5874 p.I1958 1.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC F3 2152 genome.wustl.edu 37 1 94996028 94996028 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 94996028 94996028 C T SNP F3 ENST00000334047 human ensembl 70_37 -1 known silent c.876 p.L292 0.017 pirsf_Tissue_fac/coagulation_fac-3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC TVP23C 201158 genome.wustl.edu 37 17 15406542 15406543 + Frame_Shift_Ins INS - - CT TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 15406542 15406543 - CT INS FAM18B2 ENST00000225576 human ensembl 70_37 -1 known frame_shift_ins c.467_466 p.R156fs 0.001:0.000 NULL pfam_DUF846_euk - no_errors FAM18B2 HGNC FAM217B 63939 genome.wustl.edu 37 20 58519380 58519380 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 58519380 58519380 G A SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.382 p.D128N 0.033 NULL NULL - no_errors FAM217B HGNC FAM47A 158724 genome.wustl.edu 37 X 34149541 34149541 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 34149541 34149541 C T SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known silent c.855 p.K285 0.021 NULL NULL - no_errors FAM47A HGNC FAT3 120114 genome.wustl.edu 37 11 92534124 92534124 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 92534124 92534124 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.7945 p.D2649N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FBXO33 254170 genome.wustl.edu 37 14 39868938 39868938 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 39868938 39868938 C T SNP FBXO33 ENST00000298097 human ensembl 70_37 -1 known missense c.1450 p.D484N 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 FBXO33 HGNC FETUB 26998 genome.wustl.edu 37 3 186364083 186364083 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 186364083 186364083 C T SNP FETUB ENST00000265029 human ensembl 70_37 +1 known missense c.641 p.S214L 1.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC FLT1 2321 genome.wustl.edu 37 13 29012465 29012465 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 29012465 29012465 C T SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.406 p.V136I 0.994 prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FNDC1 84624 genome.wustl.edu 37 6 159682278 159682278 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 159682278 159682278 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.5231 p.S1744L 0.031 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC G6PC2 57818 genome.wustl.edu 37 2 169764723 169764723 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 169764723 169764723 G C SNP G6PC2 ENST00000461586 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors G6PC2 HGNC GALNT18 374378 genome.wustl.edu 37 11 11398878 11398878 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 11398878 11398878 G A SNP GALNTL4 ENST00000227756 human ensembl 70_37 -1 known silent c.828 p.I276 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL4 HGNC GBF1 8729 genome.wustl.edu 37 10 104139119 104139119 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 104139119 104139119 G C SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.4570 p.E1524Q 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GCN1L1 10985 genome.wustl.edu 37 12 120585024 120585024 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 120585024 120585024 C G SNP GCN1L1 ENST00000300648 human ensembl 70_37 -1 known missense c.4779 p.Q1593H 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC GDAP2 54834 genome.wustl.edu 37 1 118463026 118463026 + RNA SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 118463026 118463026 C G SNP GDAP2 ENST00000494224 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors GDAP2 HGNC GFPT1 2673 genome.wustl.edu 37 2 69565691 69565691 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 69565691 69565691 G C SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known missense c.1210 p.Q404E 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC GIGYF1 64599 genome.wustl.edu 37 7 100284988 100284988 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 100284988 100284988 C T SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known missense c.415 p.E139K 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC GK5 256356 genome.wustl.edu 37 3 141917646 141917646 + Nonsense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 141917646 141917646 C A SNP GK5 ENST00000392993 human ensembl 70_37 -1 known nonsense c.541 p.E181* 0.974 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC GNA11 2767 genome.wustl.edu 37 19 3110178 3110178 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 3110178 3110178 C G SNP GNA11 ENST00000078429 human ensembl 70_37 +1 known missense c.168 p.I56M 1.000 pfam_Gprotein_alpha_su,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 GNA11 HGNC GOLGA8S 653061 genome.wustl.edu 37 15 23609673 23609673 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 23609673 23609673 G A SNP GOLGA8S ENST00000562295 human ensembl 70_37 +1 novel silent c.1449 p.Q483 1.000 NULL NULL - no_errors GOLGA8S HGNC GPR98 84059 genome.wustl.edu 37 5 89933626 89933626 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 89933626 89933626 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.2101 p.A701T 0.923 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 GPR98 84059 genome.wustl.edu 37 5 90449160 90449160 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 90449160 90449160 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known silent c.18747 p.L6249 0.992 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 GRIN3B 116444 genome.wustl.edu 37 19 1008173 1008173 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 1008173 1008173 C T SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known silent c.2349 p.L783 0.991 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC HAP1 9001 genome.wustl.edu 37 17 39881183 39881183 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 39881183 39881183 C T SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.1786 p.E596K 0.699 NULL pfam_HAP1_N - no_errors HAP1 HGNC HCN1 348980 genome.wustl.edu 37 5 45353336 45353336 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 45353336 45353336 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1243 p.E415K 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC HEATR1 55127 genome.wustl.edu 37 1 236717916 236717916 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 236717916 236717916 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.6060 p.M2020I 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HFM1 164045 genome.wustl.edu 37 1 91742578 91742578 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 91742578 91742578 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3433 p.H1145Y 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HFM1 164045 genome.wustl.edu 37 1 91778974 91778974 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 91778974 91778974 C G SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3323 p.R1108T 0.672 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HIPK1 204851 genome.wustl.edu 37 1 114498227 114498227 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 114498227 114498227 G C SNP HIPK1 ENST00000369558 human ensembl 70_37 +1 known missense c.1363 p.E455Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK1 HGNC HIPK1 204851 genome.wustl.edu 37 1 114505025 114505025 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 114505025 114505025 C T SNP HIPK1 ENST00000369558 human ensembl 70_37 +1 known nonsense c.2068 p.Q690* 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 HIPK1 HGNC HIVEP2 3097 genome.wustl.edu 37 6 143093707 143093707 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 143093707 143093707 G A SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.2169 p.I723 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HKDC1 80201 genome.wustl.edu 37 10 70992572 70992572 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 70992572 70992572 G A SNP HKDC1 ENST00000354624 human ensembl 70_37 +1 known silent c.279 p.L93 0.992 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC HMCN1 83872 genome.wustl.edu 37 1 186064492 186064492 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 186064492 186064492 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.10412 p.R3471K 0.964 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HNRNPUL2 221092 genome.wustl.edu 37 11 62488794 62488794 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 62488794 62488794 C T SNP HNRNPUL2 ENST00000301785 human ensembl 70_37 -1 known silent c.1584 p.R528 1.000 pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12 pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL2 HGNC HUWE1 10075 genome.wustl.edu 37 X 53579331 53579331 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 53579331 53579331 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.8822 p.R2941Q 0.994 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201185875 201185875 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 201185875 201185875 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.9589 p.P3197S 0.936 superfamily_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 IGFN1 HGNC IGSF22 283284 genome.wustl.edu 37 11 18743564 18743564 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 18743564 18743564 G A SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.134 p.S45L 0.141 NULL 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 IGSF22 HGNC IL17C 27189 genome.wustl.edu 37 16 88706364 88706364 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 88706364 88706364 C A SNP IL17C ENST00000244241 human ensembl 70_37 +1 known missense c.478 p.R160S 0.991 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC INCENP 3619 genome.wustl.edu 37 11 61919295 61919295 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 61919295 61919295 C G SNP INCENP ENST00000394818 human ensembl 70_37 +1 known silent c.2604 p.L868 1.000 pfam_Inner_centromere_prot_ARK-bd pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC INO80E 283899 genome.wustl.edu 37 16 30016734 30016734 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 30016734 30016734 G A SNP INO80E ENST00000563197 human ensembl 70_37 +1 known missense c.706 p.D236N 0.996 NULL NULL - no_errors INO80E HGNC INSIG1 3638 genome.wustl.edu 37 7 155090262 155090262 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 155090262 155090262 C G SNP INSIG1 ENST00000340368 human ensembl 70_37 +1 known silent c.267 p.L89 0.632 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG1 HGNC IPO5 3843 genome.wustl.edu 37 13 98654945 98654945 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 98654945 98654945 G C SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known missense c.1295 p.R432T 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC IPO7 10527 genome.wustl.edu 37 11 9424908 9424908 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 9424908 9424908 G C SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known silent c.156 p.V52 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC IPO9 55705 genome.wustl.edu 37 1 201843430 201843430 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 201843430 201843430 C T SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known silent c.2763 p.I921 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC IQCH 64799 genome.wustl.edu 37 15 67571776 67571776 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 67571776 67571776 C G SNP IQCH ENST00000335894 human ensembl 70_37 +1 known missense c.313 p.Q105E 0.672 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC IRF3 3661 genome.wustl.edu 37 19 50168985 50168985 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50168985 50168985 G A SNP IRF3 ENST00000597180 human ensembl 70_37 -1 known rna NULL NULL 0.838 - - - no_errors IRF3 HGNC ITIH1 3697 genome.wustl.edu 37 3 52825552 52825552 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 52825552 52825552 C T SNP ITIH1 ENST00000273283 human ensembl 70_37 +1 known silent c.2514 p.I838 0.538 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ITK 3702 genome.wustl.edu 37 5 156667073 156667073 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 156667073 156667073 G A SNP ITK ENST00000422843 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC KBTBD12 166348 genome.wustl.edu 37 3 127642675 127642675 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 127642675 127642675 C T SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known silent c.771 p.I257 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC KCNC1 3746 genome.wustl.edu 37 11 17793409 17793409 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 17793409 17793409 C T SNP KCNC1 ENST00000265969 human ensembl 70_37 +1 known silent c.768 p.F256 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC KCNJ11 3767 genome.wustl.edu 37 11 17409138 17409138 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 17409138 17409138 G C SNP KCNJ11 ENST00000339994 human ensembl 70_37 -1 known missense c.501 p.I167M 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC KCNJ16 3773 genome.wustl.edu 37 17 68128231 68128231 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 68128231 68128231 G A SNP KCNJ16 ENST00000283936 human ensembl 70_37 +1 known missense c.3 p.M1I 0.981 prints_K_chnl_inward-rec_Kir5 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC KCNQ3 3786 genome.wustl.edu 37 8 133492621 133492621 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 133492621 133492621 G A SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known silent c.159 p.V53 1.000 NULL 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 KDM5B 10765 genome.wustl.edu 37 1 202698923 202698923 + Nonsense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 202698923 202698923 G C SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known nonsense c.4409 p.S1470* 1.000 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC KDM5C 8242 genome.wustl.edu 37 X 53228335 53228335 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 53228335 53228335 G A SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known silent c.2067 p.I689 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC KIAA1407 57577 genome.wustl.edu 37 3 113724430 113724430 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 113724430 113724430 G C SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.1793 p.A598G 0.008 NULL NULL - no_errors KIAA1407 HGNC KIAA1524 57650 genome.wustl.edu 37 3 108278654 108278654 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 108278654 108278654 C T SNP KIAA1524 ENST00000295746 human ensembl 70_37 -1 known missense c.1963 p.D655N 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC KIF20B 9585 genome.wustl.edu 37 10 91497950 91497950 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 91497950 91497950 G C SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.3442 p.E1148Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KIF23 9493 genome.wustl.edu 37 15 69718494 69718494 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 69718494 69718494 G A SNP KIF23 ENST00000260363 human ensembl 70_37 +1 known missense c.820 p.E274K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC KIF2C 11004 genome.wustl.edu 37 1 45213065 45213065 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 45213065 45213065 G C SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known missense c.175 p.D59H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC KLHL2 11275 genome.wustl.edu 37 4 166231823 166231823 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 166231823 166231823 G A SNP KLHL2 ENST00000226725 human ensembl 70_37 +1 known missense c.1158 p.M386I 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC KRT15 3866 genome.wustl.edu 37 17 39672427 39672427 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 39672427 39672427 C G SNP KRT15 ENST00000254043 human ensembl 70_37 -1 known missense c.829 p.E277Q 0.989 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC KRT17P1 147228 genome.wustl.edu 37 17 16748860 16748860 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 16748860 16748860 C T SNP KRT17P1 ENST00000577449 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors KRT17P1 HGNC LACC1 144811 genome.wustl.edu 37 13 44455648 44455648 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 44455648 44455648 G A SNP LACC1 ENST00000325686 human ensembl 70_37 +1 known missense c.527 p.G176E 1.000 superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC LENG8 114823 genome.wustl.edu 37 19 54968077 54968077 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 54968077 54968077 C G SNP LENG8 ENST00000326764 human ensembl 70_37 +1 known missense c.1708 p.P570A 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC LNX2 222484 genome.wustl.edu 37 13 28122532 28122532 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 28122532 28122532 C T SNP LNX2 ENST00000316334 human ensembl 70_37 -1 known silent c.2013 p.L671 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC LOC100128340 100128340 genome.wustl.edu 37 5 177309503 177309503 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 177309503 177309503 G A SNP LOC100128340 ENST00000358442 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-423H2.1 Clone_based_vega_gene LOC349160 349160 genome.wustl.edu 37 7 136849075 136849075 + RNA SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 7 136849075 136849075 G C SNP LOC349160 ENST00000425981 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC009264.1 Clone_based_vega_gene LONRF2 164832 genome.wustl.edu 37 2 100903453 100903453 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 100903453 100903453 C T SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.1993 p.A665T 0.123 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC LOXL3 84695 genome.wustl.edu 37 2 74762422 74762422 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 74762422 74762422 C G SNP LOXL3 ENST00000264094 human ensembl 70_37 -1 known missense c.1576 p.E526Q 1.000 superfamily_Srcr_rcpt-rel pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL3 HGNC LRP1B 53353 genome.wustl.edu 37 2 141243034 141243034 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 141243034 141243034 G C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known silent c.9303 p.L3101 0.994 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP6 4040 genome.wustl.edu 37 12 12291357 12291358 + Frame_Shift_Ins INS - - T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 12291357 12291358 - T INS LRP6 ENST00000261349 human ensembl 70_37 -1 known frame_shift_ins c.3509_3508 p.I1170fs 1.000:1.000 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC LRP6 4040 genome.wustl.edu 37 12 12291364 12291364 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 12291364 12291364 C G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.3502 p.E1168Q 1.000 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC LRP6 4040 genome.wustl.edu 37 12 12291406 12291406 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 12291406 12291406 C G SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.3460 p.E1154Q 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC LRRC47 57470 genome.wustl.edu 37 1 3703465 3703465 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 3703465 3703465 C T SNP LRRC47 ENST00000378251 human ensembl 70_37 -1 known missense c.1025 p.R342Q 0.025 smart_B3/B4_tRNA-bd pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC LRRK1 79705 genome.wustl.edu 37 15 101561369 101561369 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 101561369 101561369 C T SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known missense c.1721 p.S574L 0.659 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC LRRK1 79705 genome.wustl.edu 37 15 101598292 101598292 + Nonsense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 101598292 101598292 C G SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known nonsense c.4625 p.S1542* 0.954 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC LRRN1 57633 genome.wustl.edu 37 3 3886968 3886968 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 3886968 3886968 G A SNP LRRN1 ENST00000319331 human ensembl 70_37 +1 known missense c.643 p.A215T 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC LY96 23643 genome.wustl.edu 37 8 74939055 74939055 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 74939055 74939055 C A SNP LY96 ENST00000284818 human ensembl 70_37 +1 known missense c.363 p.F121L 0.589 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY96 HGNC MADD 8567 genome.wustl.edu 37 11 47296120 47296120 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 47296120 47296120 G A SNP MADD ENST00000311027 human ensembl 70_37 +1 known silent c.69 p.P23 0.991 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC MAML3 55534 genome.wustl.edu 37 4 140640513 140640513 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 140640513 140640513 C G SNP MAML3 ENST00000509479 human ensembl 70_37 -1 known missense c.3381 p.W1127C 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC MAPK7 5598 genome.wustl.edu 37 17 19284297 19284297 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 19284297 19284297 C T SNP MAPK7 ENST00000308406 human ensembl 70_37 +1 known missense c.775 p.R259C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPK7 HGNC MGAT4C 25834 genome.wustl.edu 37 12 86373204 86373204 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 86373204 86373204 C T SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known missense c.1387 p.E463K 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC MGAT4C 25834 genome.wustl.edu 37 12 86373637 86373637 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 86373637 86373637 C A SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known missense c.954 p.L318F 0.971 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC MRPL1 65008 genome.wustl.edu 37 4 78783989 78783989 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 78783989 78783989 C T SNP MRPL1 ENST00000515625 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors MRPL1 HGNC MRPL27 51264 genome.wustl.edu 37 17 48447381 48447381 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 48447381 48447381 G A SNP MRPL27 ENST00000442592 human ensembl 70_37 -1 putative silent c.252 p.S84 0.000 pfam_Ribosomal_L27,superfamily_Ribosomal_L27 pfam_Ribosomal_L27,superfamily_Ribosomal_L27,prints_Ribosomal_L27 - no_errors MRPL27 HGNC MRVI1 10335 genome.wustl.edu 37 11 10602102 10602102 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 10602102 10602102 G C SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.2368 p.Q790E 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC MS4A3 932 genome.wustl.edu 37 11 59828641 59828641 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 59828641 59828641 C T SNP MS4A3 ENST00000278865 human ensembl 70_37 +1 known missense c.8 p.S3F 0.144 NULL pfam_CD20-like - no_errors MS4A3 HGNC MSMO1 6307 genome.wustl.edu 37 4 166254663 166254663 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 166254663 166254663 C G SNP MSMO1 ENST00000261507 human ensembl 70_37 +1 known missense c.141 p.F47L 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC MTMR8 55613 genome.wustl.edu 37 X 63564952 63564952 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 63564952 63564952 G A SNP MTMR8 ENST00000374852 human ensembl 70_37 -1 known missense c.838 p.R280W 0.997 smart_Tyr_Pase_cat pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC MTRF1 9617 genome.wustl.edu 37 13 41814474 41814474 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 41814474 41814474 C T SNP MTRF1 ENST00000430347 human ensembl 70_37 -1 known missense c.832 p.E278K 0.999 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC MUC16 94025 genome.wustl.edu 37 19 9060718 9060718 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 9060718 9060718 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.26728 p.P8910S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYH1 4619 genome.wustl.edu 37 17 10411242 10411242 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10411242 10411242 C G SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.1929 p.K643N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC MYH2 4620 genome.wustl.edu 37 17 10448678 10448678 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10448678 10448678 G T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.490 p.Q164K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom 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 MYH4 4622 genome.wustl.edu 37 17 10360825 10360825 + Silent SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10360825 10360825 G C SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known silent c.1809 p.P603 0.997 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC MYH8 4626 genome.wustl.edu 37 17 10322273 10322273 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 10322273 10322273 C T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.285 p.M95I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYH9 4627 genome.wustl.edu 37 22 36712675 36712675 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 36712675 36712675 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1267 p.E423K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36718516 36718516 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 36718516 36718516 G A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.663 p.F221 0.915 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC NAV3 89795 genome.wustl.edu 37 12 78571090 78571090 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 78571090 78571090 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.5294 p.S1765L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBAS 51594 genome.wustl.edu 37 2 15432833 15432833 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 15432833 15432833 C T SNP NBAS ENST00000281513 human ensembl 70_37 -1 known missense c.4855 p.E1619K 0.011 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC NBEAL1 65065 genome.wustl.edu 37 2 204073911 204073911 + Nonsense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 204073911 204073911 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known nonsense c.7564 p.Q2522* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NCAPH2 29781 genome.wustl.edu 37 22 50960208 50960208 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 50960208 50960208 C G SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.1039 p.L347V 0.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC NCKAP1 10787 genome.wustl.edu 37 2 183860443 183860443 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 183860443 183860443 C T SNP NCKAP1 ENST00000360982 human ensembl 70_37 -1 known missense c.745 p.A249T 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC NCSTN 23385 genome.wustl.edu 37 1 160319399 160319399 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 160319399 160319399 G C SNP NCSTN ENST00000294785 human ensembl 70_37 +1 known missense c.375 p.L125F 0.340 NULL pfam_Nicastrin - no_errors NCSTN HGNC NDNF 79625 genome.wustl.edu 37 4 121958175 121958175 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 121958175 121958175 G A SNP NDNF ENST00000379692 human ensembl 70_37 -1 known silent c.951 p.V317 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC NIPBL 25836 genome.wustl.edu 37 5 37063920 37063920 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 37063920 37063920 C T SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7889 p.P2630L 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NNT 23530 genome.wustl.edu 37 5 43659317 43659317 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 43659317 43659317 C T SNP NNT ENST00000264663 human ensembl 70_37 +1 known silent c.2499 p.V833 0.015 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC NOP58 51602 genome.wustl.edu 37 2 203155173 203155173 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 203155173 203155173 G A SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known silent c.627 p.Q209 1.000 pfam_NOSIC,smart_NOSIC pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC NR1H3 10062 genome.wustl.edu 37 11 47283409 47283409 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 47283409 47283409 G C SNP NR1H3 ENST00000481889 human ensembl 70_37 +1 putative missense c.885 p.K295N 0.000 smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H3 HGNC NSL1 25936 genome.wustl.edu 37 1 212955582 212955582 + RNA SNP T T G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 212955582 212955582 T G SNP NSL1 ENST00000473995 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NSL1 HGNC NUDT19 390916 genome.wustl.edu 37 19 33183126 33183126 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 33183126 33183126 C T SNP NUDT19 ENST00000397061 human ensembl 70_37 +1 novel missense c.260 p.P87L 0.597 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT19 HGNC NUMA1 4926 genome.wustl.edu 37 11 71724989 71724989 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 71724989 71724989 G A SNP NUMA1 ENST00000393695 human ensembl 70_37 -1 known missense c.3560 p.S1187L 0.020 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC NUP107 57122 genome.wustl.edu 37 12 69082777 69082777 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 69082777 69082777 G A SNP NUP107 ENST00000229179 human ensembl 70_37 +1 known missense c.44 p.R15Q 0.999 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC NUP62 23636 genome.wustl.edu 37 19 50411753 50411753 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50411753 50411753 C T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.1312 p.E438K 0.999 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC NUP62 23636 genome.wustl.edu 37 19 50413062 50413062 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50413062 50413062 C G SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC OPRL1 4987 genome.wustl.edu 37 20 62729390 62729390 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 62729390 62729390 C T SNP OPRL1 ENST00000336866 human ensembl 70_37 +1 known missense c.469 p.R157C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC OR11H12 440153 genome.wustl.edu 37 14 19378189 19378189 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 19378189 19378189 G T SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.596 p.R199L 0.000 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 OR11H12 HGNC OR13C9 286362 genome.wustl.edu 37 9 107379601 107379601 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 107379601 107379601 G C SNP OR13C9 ENST00000259362 human ensembl 70_37 -1 known missense c.885 p.I295M 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC OR2G2 81470 genome.wustl.edu 37 1 247752501 247752501 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 247752501 247752501 C G SNP OR2G2 ENST00000320065 human ensembl 70_37 +1 known missense c.840 p.F280L 0.863 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC OR4L1 122742 genome.wustl.edu 37 14 20528262 20528262 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 20528262 20528262 G C SNP OR4L1 ENST00000315683 human ensembl 70_37 +1 known missense c.59 p.R20P 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4L1 HGNC OR5H1 26341 genome.wustl.edu 37 3 97851984 97851984 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 97851984 97851984 C T SNP OR5H1 ENST00000354565 human ensembl 70_37 +1 known missense c.443 p.S148L 0.092 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC PAN2 9924 genome.wustl.edu 37 12 56726779 56726779 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 56726779 56726779 G A SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known silent c.100 p.L34 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC PBLD 64081 genome.wustl.edu 37 10 70043943 70043943 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 70043943 70043943 C T SNP PBLD ENST00000309049 human ensembl 70_37 -1 known silent c.858 p.L286 1.000 pirsf_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC PBLD 64081 genome.wustl.edu 37 10 70066543 70066543 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 70066543 70066543 G A SNP PBLD ENST00000309049 human ensembl 70_37 -1 known missense c.59 p.P20L 1.000 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC PBX2 5089 genome.wustl.edu 37 6 32154456 32154456 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 32154456 32154456 G A SNP PBX2 ENST00000375050 human ensembl 70_37 -1 known silent c.1125 p.L375 0.998 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX2 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140176742 140176742 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140176742 140176742 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known silent c.2193 p.A731 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC PCDHB3 56132 genome.wustl.edu 37 5 140482562 140482562 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140482562 140482562 C G SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.2329 p.Q777E 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC PCDHGA6 56109 genome.wustl.edu 37 5 140754203 140754203 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140754203 140754203 G A SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known missense c.553 p.E185K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC PCDHGB7 56099 genome.wustl.edu 37 5 140797792 140797792 + Silent SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140797792 140797792 G T SNP PCDHGB7 ENST00000398594 human ensembl 70_37 +1 known silent c.366 p.V122 0.012 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC PELP1 27043 genome.wustl.edu 37 17 4576054 4576054 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 4576054 4576054 C T SNP PELP1 ENST00000301396 human ensembl 70_37 -1 known silent c.2664 p.G888 0.993 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CD 5293 genome.wustl.edu 37 1 9784049 9784049 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 9784049 9784049 G A SNP PIK3CD ENST00000536656 human ensembl 70_37 +1 known missense c.2689 p.E897K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC PITX3 5309 genome.wustl.edu 37 10 103990664 103990664 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 103990664 103990664 G A SNP PITX3 ENST00000370002 human ensembl 70_37 -1 known silent c.516 p.F172 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX3 HGNC PITX3 5309 genome.wustl.edu 37 10 103990725 103990725 + Nonsense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 103990725 103990725 G T SNP PITX3 ENST00000370002 human ensembl 70_37 -1 known nonsense c.455 p.S152* 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX3 HGNC PKN3 29941 genome.wustl.edu 37 9 131476870 131476870 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 131476870 131476870 G A SNP PKN3 ENST00000291906 human ensembl 70_37 +1 known missense c.1511 p.G504D 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC PLCB2 5330 genome.wustl.edu 37 15 40582813 40582813 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 40582813 40582813 C A SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known missense c.3174 p.M1058I 1.000 pirsf_PLC-beta,pfam_PLC-beta_C 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 PLEKHA1 59338 genome.wustl.edu 37 10 124172482 124172482 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 124172482 124172482 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known missense c.389 p.R130H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC PLEKHA7 144100 genome.wustl.edu 37 11 16877407 16877407 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 16877407 16877407 G A SNP PLEKHA7 ENST00000448080 human ensembl 70_37 -1 known silent c.360 p.V120 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA7 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65208765 65208765 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 65208765 65208765 G A SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known missense c.2530 p.E844K 0.988 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65209118 65209118 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 65209118 65209118 G C SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known missense c.2883 p.K961N 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC PLEKHG4 25894 genome.wustl.edu 37 16 67318975 67318975 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 67318975 67318975 G C SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known missense c.2052 p.Q684H 0.185 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC PRDM16 63976 genome.wustl.edu 37 1 3301735 3301735 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 3301735 3301735 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.458 p.S153N 0.000 smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRG4 10216 genome.wustl.edu 37 1 186276247 186276247 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 186276247 186276247 G A SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.1396 p.E466K 0.002 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PROX1 5629 genome.wustl.edu 37 1 214170608 214170608 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 214170608 214170608 G C SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC PROX1 5629 genome.wustl.edu 37 1 214170875 214170875 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 214170875 214170875 G C SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known missense c.997 p.E333Q 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC PROX1 5629 genome.wustl.edu 37 1 214171342 214171342 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 214171342 214171342 G C SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known missense c.1464 p.L488F 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC PRR12 57479 genome.wustl.edu 37 19 50098327 50098327 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 50098327 50098327 C G SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.735 p.F245L 1.000 NULL NULL - no_errors PRR12 HGNC PRR7 80758 genome.wustl.edu 37 5 176882210 176882210 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 176882210 176882210 G C SNP PRR7 ENST00000323249 human ensembl 70_37 +1 known missense c.142 p.E48Q 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors PRR7 HGNC PTGDR 5729 genome.wustl.edu 37 14 52735042 52735042 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 52735042 52735042 C T SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known silent c.510 p.G170 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC PTPRB 5787 genome.wustl.edu 37 12 70954692 70954692 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 70954692 70954692 G A SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known silent c.4191 p.L1397 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PTPRT 11122 genome.wustl.edu 37 20 40727169 40727169 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 40727169 40727169 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.3804 p.F1268 0.976 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC PYROXD1 79912 genome.wustl.edu 37 12 21621553 21621553 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 21621553 21621553 G A SNP PYROXD1 ENST00000240651 human ensembl 70_37 +1 known missense c.1368 p.M456I 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC RAB35 11021 genome.wustl.edu 37 12 120541722 120541722 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 120541722 120541722 G A SNP RAB35 ENST00000544304 human ensembl 70_37 -1 known nonsense c.247 p.Q83* 1.000 NULL NULL - no_errors RAB35 HGNC RANBP6 26953 genome.wustl.edu 37 9 6013755 6013755 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 6013755 6013755 C G SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.1853 p.R618T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC RAP2B 5912 genome.wustl.edu 37 3 152880788 152880788 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 152880788 152880788 C T SNP RAP2B ENST00000323534 human ensembl 70_37 +1 known silent c.306 p.R102 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2B HGNC RASSF2 9770 genome.wustl.edu 37 20 4764948 4764948 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 4764948 4764948 C G SNP RASSF2 ENST00000379376 human ensembl 70_37 -1 known missense c.952 p.E318Q 1.000 pfscan_SARAH pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC RASSF5 83593 genome.wustl.edu 37 1 206758446 206758446 + RNA SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 206758446 206758446 C T SNP RASSF5 ENST00000481486 human ensembl 70_37 +1 putative rna NULL NULL 0.014 - - - no_errors RASSF5 HGNC RBM26 64062 genome.wustl.edu 37 13 79942903 79942903 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 79942903 79942903 C T SNP RBM26 ENST00000327303 human ensembl 70_37 -1 known missense c.857 p.R286K 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC RHBDF1 64285 genome.wustl.edu 37 16 114768 114768 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 114768 114768 G C SNP RHBDF1 ENST00000262316 human ensembl 70_37 -1 known missense c.177 p.I59M 0.016 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC RNF151 146310 genome.wustl.edu 37 16 2017754 2017754 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 2017754 2017754 G C SNP RNF151 ENST00000569714 human ensembl 70_37 +1 known missense c.178 p.E60Q 0.966 pfam_Ubox_domain pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF - no_errors RNF151 HGNC ROCK1 6093 genome.wustl.edu 37 18 18586468 18586468 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 18 18586468 18586468 G A SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known nonsense c.1729 p.Q577* 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC RPS23 6228 genome.wustl.edu 37 5 81573526 81573526 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 81573526 81573526 G A SNP RPS23 ENST00000296674 human ensembl 70_37 -1 known silent c.150 p.I50 0.827 pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC RPS23 6228 genome.wustl.edu 37 5 81573540 81573540 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 81573540 81573540 G A SNP RPS23 ENST00000296674 human ensembl 70_37 -1 known missense c.136 p.H46Y 1.000 pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc pfam_Ribosomal_S12/S23,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_S12/S23,tigrfam_Ribosomal_S23_euk/arc - no_errors RPS23 HGNC RSF1 51773 genome.wustl.edu 37 11 77412845 77412845 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 77412845 77412845 C T SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known missense c.1429 p.D477N 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC RTN4 57142 genome.wustl.edu 37 2 55252291 55252291 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 55252291 55252291 G A SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known missense c.2944 p.P982S 0.978 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC RTN4 57142 genome.wustl.edu 37 2 55253040 55253040 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 55253040 55253040 G C SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known missense c.2195 p.S732C 0.957 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC RYR2 6262 genome.wustl.edu 37 1 237947567 237947567 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 237947567 237947567 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.12573 p.K4191 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SART3 9733 genome.wustl.edu 37 12 108942982 108942982 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 12 108942982 108942982 G A SNP SART3 ENST00000228284 human ensembl 70_37 -1 known silent c.321 p.I107 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC SCAI 286205 genome.wustl.edu 37 9 127828300 127828300 + Nonsense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 127828300 127828300 G A SNP SCAI ENST00000373549 human ensembl 70_37 -1 known nonsense c.136 p.Q46* 0.422 pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC SCN5A 6331 genome.wustl.edu 37 3 38674567 38674567 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 38674567 38674567 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.232 p.E78K 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SCNN1D 6339 genome.wustl.edu 37 1 1223059 1223059 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 1223059 1223059 G A SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.1406 p.G469D 0.310 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC SDHA 6389 genome.wustl.edu 37 5 235338 235338 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 235338 235338 G C SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.1144 p.G382R 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC SEC14L4 284904 genome.wustl.edu 37 22 30890146 30890146 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 30890146 30890146 C G SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known missense c.571 p.V191L 0.009 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC SEMA6D 80031 genome.wustl.edu 37 15 48056112 48056112 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 48056112 48056112 G A SNP SEMA6D ENST00000316364 human ensembl 70_37 +1 known silent c.813 p.E271 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC SF3A3 10946 genome.wustl.edu 37 1 38444715 38444715 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 38444715 38444715 G A SNP SF3A3 ENST00000373019 human ensembl 70_37 -1 known silent c.772 p.L258 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC SFN 2810 genome.wustl.edu 37 1 27190424 27190424 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 27190424 27190424 G A SNP SFN ENST00000339276 human ensembl 70_37 +1 known missense c.721 p.E241K 1.000 smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors SFN HGNC SH3KBP1 30011 genome.wustl.edu 37 X 19713767 19713767 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 19713767 19713767 C T SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known silent c.483 p.E161 0.510 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC SIGLEC10 89790 genome.wustl.edu 37 19 51914460 51914460 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 51914460 51914460 C G SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1987 p.E663Q 0.201 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC SIGMAR1 10280 genome.wustl.edu 37 9 34637231 34637231 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 34637231 34637231 G C SNP SIGMAR1 ENST00000277010 human ensembl 70_37 -1 known missense c.338 p.S113C 1.000 pfam_ERG2_sigma1_rcpt-like pfam_ERG2_sigma1_rcpt-like - no_errors SIGMAR1 HGNC SLC12A8 84561 genome.wustl.edu 37 3 124837625 124837625 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 124837625 124837625 C G SNP SLC12A8 ENST00000423114 human ensembl 70_37 -1 known silent c.987 p.L329 1.000 pfam_AA-permease_dom pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1 - no_errors SLC12A8 HGNC SLC15A1 6564 genome.wustl.edu 37 13 99361909 99361909 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 99361909 99361909 C G SNP SLC15A1 ENST00000376503 human ensembl 70_37 -1 known silent c.984 p.V328 0.998 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC SLC16A12 387700 genome.wustl.edu 37 10 91195879 91195879 + Nonsense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 91195879 91195879 G C SNP SLC16A12 ENST00000371790 human ensembl 70_37 -1 known nonsense c.1226 p.S409* 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC SLC1A4 6509 genome.wustl.edu 37 2 65217093 65217093 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 65217093 65217093 G A SNP SLC1A4 ENST00000234256 human ensembl 70_37 +1 known missense c.316 p.D106N 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC SLC25A12 8604 genome.wustl.edu 37 2 172648021 172648021 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 172648021 172648021 G A SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known silent c.1525 p.L509 0.213 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC SLC33A1 9197 genome.wustl.edu 37 3 155551785 155551785 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 155551785 155551785 C T SNP SLC33A1 ENST00000359479 human ensembl 70_37 -1 known missense c.1009 p.E337K 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC SLC38A10 124565 genome.wustl.edu 37 17 79234147 79234147 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 79234147 79234147 G A SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known silent c.1179 p.T393 0.913 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC SLC38A7 55238 genome.wustl.edu 37 16 58712778 58712778 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 58712778 58712778 G A SNP SLC38A7 ENST00000219320 human ensembl 70_37 -1 known silent c.291 p.I97 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC SLC39A9 55334 genome.wustl.edu 37 14 69864951 69864951 + RNA SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 69864951 69864951 C G SNP SLC39A9 ENST00000556125 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC39A9 HGNC SLC9A7 84679 genome.wustl.edu 37 X 46541920 46541920 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 X 46541920 46541920 G A SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.376 p.R126C 1.000 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC SLFN11 91607 genome.wustl.edu 37 17 33690789 33690789 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 33690789 33690789 G C SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known missense c.38 p.S13C 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC SLITRK5 26050 genome.wustl.edu 37 13 88329227 88329227 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 88329227 88329227 G C SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.1584 p.L528F 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC SMARCAL1 50485 genome.wustl.edu 37 2 217347643 217347643 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 217347643 217347643 G C SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known missense c.2808 p.Q936H 0.001 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC SMC2 10592 genome.wustl.edu 37 9 106875709 106875709 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 9 106875709 106875709 G A SNP SMC2 ENST00000286398 human ensembl 70_37 +1 known missense c.1367 p.R456K 0.994 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC SMC4 10051 genome.wustl.edu 37 3 160149569 160149569 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 160149569 160149569 G A SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.3253 p.E1085K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC SNX29 92017 genome.wustl.edu 37 16 12155423 12155423 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 12155423 12155423 G A SNP SNX29 ENST00000306030 human ensembl 70_37 +1 known missense c.8 p.S3N 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC SPHKAP 80309 genome.wustl.edu 37 2 228860227 228860227 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 228860227 228860227 C A SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.4632 p.M1544I 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC STK10 6793 genome.wustl.edu 37 5 171544618 171544618 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 171544618 171544618 G A SNP STK10 ENST00000176763 human ensembl 70_37 -1 known silent c.387 p.L129 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_PKK,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 STK10 HGNC STK11 6794 genome.wustl.edu 37 19 1207152 1207152 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 1207152 1207152 C G SNP STK11 ENST00000326873 human ensembl 70_37 +1 known silent c.240 p.L80 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC STK16 8576 genome.wustl.edu 37 2 220110704 220110704 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 220110704 220110704 G A SNP STK16 ENST00000486813 human ensembl 70_37 +1 putative rna NULL NULL 0.997 - - - no_errors STK16 HGNC STK16 8576 genome.wustl.edu 37 2 220112958 220112958 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 220112958 220112958 C T SNP STK16 ENST00000396738 human ensembl 70_37 +1 known missense c.701 p.P234L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK16 HGNC STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808940 48808940 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 48808940 48808940 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 70_37 +1 known silent c.1168 p.L390 0.995 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC SUZ12 23512 genome.wustl.edu 37 17 30302566 30302566 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 30302566 30302566 C G SNP SUZ12 ENST00000322652 human ensembl 70_37 +1 known silent c.657 p.L219 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC SYNDIG1L 646658 genome.wustl.edu 37 14 74876329 74876329 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 74876329 74876329 G C SNP SYNDIG1L ENST00000331628 human ensembl 70_37 -1 known missense c.119 p.S40C 0.940 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1L HGNC TAB2 23118 genome.wustl.edu 37 6 149700292 149700292 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 149700292 149700292 G C SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.1241 p.G414A 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC TCP11L1 55346 genome.wustl.edu 37 11 33079605 33079605 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 11 33079605 33079605 G A SNP TCP11L1 ENST00000527661 human ensembl 70_37 +1 known missense c.558 p.M186I 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC TLR2 7097 genome.wustl.edu 37 4 154625477 154625477 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 154625477 154625477 C G SNP TLR2 ENST00000260010 human ensembl 70_37 +1 known missense c.1418 p.S473C 0.007 pirsf_Toll-like_receptor 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,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR2 HGNC TMCO6 55374 genome.wustl.edu 37 5 140019389 140019389 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 5 140019389 140019389 G C SNP TMCO6 ENST00000252100 human ensembl 70_37 +1 known missense c.151 p.E51Q 0.987 superfamily_ARM-type_fold,pfscan_Importin-a_IBB superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC TNFAIP6 7130 genome.wustl.edu 37 2 152226592 152226592 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 152226592 152226592 C T SNP TNFAIP6 ENST00000243347 human ensembl 70_37 +1 known silent c.453 p.F151 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC TNIK 23043 genome.wustl.edu 37 3 170786639 170786639 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 170786639 170786639 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.3697 p.H1233Y 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TP53BP1 7158 genome.wustl.edu 37 15 43748527 43748527 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 15 43748527 43748527 C A SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.2279 p.S760I 0.983 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TRAF3 7187 genome.wustl.edu 37 14 103336564 103336564 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 14 103336564 103336564 C T SNP TRAF3 ENST00000392745 human ensembl 70_37 +1 known missense c.26 p.S9F 0.958 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC TRIM37 4591 genome.wustl.edu 37 17 57139987 57139987 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 57139987 57139987 G T SNP TRIM37 ENST00000262294 human ensembl 70_37 -1 known missense c.883 p.P295T 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC TSSK6 83983 genome.wustl.edu 37 19 19626097 19626097 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 19626097 19626097 C T SNP TSSK6 ENST00000360913 human ensembl 70_37 -1 known missense c.140 p.R47Q 0.982 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TSSK6 HGNC TST 7263 genome.wustl.edu 37 22 37414596 37414596 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 37414596 37414596 C G SNP TST ENST00000249042 human ensembl 70_37 -1 known missense c.178 p.D60H 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC TYSND1 219743 genome.wustl.edu 37 10 71899836 71899836 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 10 71899836 71899836 G C SNP TYSND1 ENST00000287078 human ensembl 70_37 -1 known missense c.1545 p.F515L 1.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC UBR4 23352 genome.wustl.edu 37 1 19413195 19413195 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 19413195 19413195 C G SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.14665 p.D4889H 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UBR5 51366 genome.wustl.edu 37 8 103299757 103299757 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 103299757 103299757 C T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.4861 p.E1621K 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC UPF3A 65110 genome.wustl.edu 37 13 115067351 115067351 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 115067351 115067351 G A SNP UPF3A ENST00000375299 human ensembl 70_37 +1 known missense c.1153 p.E385K 0.999 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC UPK3A 7380 genome.wustl.edu 37 22 45691457 45691457 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 22 45691457 45691457 G C SNP UPK3A ENST00000216211 human ensembl 70_37 +1 known missense c.721 p.D241H 0.117 NULL NULL - no_errors UPK3A HGNC UPP2 151531 genome.wustl.edu 37 2 158977950 158977950 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 158977950 158977950 G A SNP UPP2 ENST00000409859 human ensembl 70_37 +1 known missense c.655 p.D219N 0.834 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC UQCRC2 7385 genome.wustl.edu 37 16 21964776 21964776 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 16 21964776 21964776 C T SNP UQCRC2 ENST00000268379 human ensembl 70_37 +1 known missense c.32 p.S11L 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC UTP14C 9724 genome.wustl.edu 37 13 52604876 52604876 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 13 52604876 52604876 C T SNP UTP14C ENST00000521776 human ensembl 70_37 +1 known missense c.1936 p.R646C 0.953 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC VPS25 84313 genome.wustl.edu 37 17 40927461 40927461 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 40927461 40927461 G A SNP VPS25 ENST00000253794 human ensembl 70_37 +1 known missense c.316 p.E106K 1.000 pfam_ESCRT-II_cplx_vps25-sub pfam_ESCRT-II_cplx_vps25-sub - no_errors VPS25 HGNC VPS52 6293 genome.wustl.edu 37 6 33237985 33237985 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 6 33237985 33237985 C G SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known missense c.166 p.E56Q 1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC WHSC1L1 54904 genome.wustl.edu 37 8 38205669 38205669 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 38205669 38205669 G C SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known missense c.21 p.F7L 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC WNK4 65266 genome.wustl.edu 37 17 40948022 40948022 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 40948022 40948022 C G SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.3402 p.F1134L 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC WNK4 65266 genome.wustl.edu 37 17 40948044 40948044 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 40948044 40948044 C T SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.3424 p.R1142W 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC XPO1 7514 genome.wustl.edu 37 2 61709528 61709528 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 61709528 61709528 G A SNP XPO1 ENST00000401558 human ensembl 70_37 -1 known missense c.2959 p.P987S 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69179915 69179915 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69179915 69179915 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.2086 p.D696H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69179929 69179929 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69179929 69179929 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.2072 p.R691T 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69179971 69179971 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69179971 69179971 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.2030 p.R677T 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69188564 69188564 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 4 69188564 69188564 G C SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.1504 p.Q502E 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203821436 203821436 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 1 203821436 203821436 C T SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.2342 p.S781L 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ZDBF2 57683 genome.wustl.edu 37 2 207171629 207171629 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 2 207171629 207171629 G C SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.2377 p.D793H 0.999 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZHX3 23051 genome.wustl.edu 37 20 39832617 39832617 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 20 39832617 39832617 C G SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.940 p.D314H 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZIM2 23619 genome.wustl.edu 37 19 57301275 57301275 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 57301275 57301275 C T SNP ZIM2 ENST00000221722 human ensembl 70_37 -1 known missense c.442 p.E148K 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ZNF222 7673 genome.wustl.edu 37 19 44536300 44536300 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44536300 44536300 C T SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.593 p.S198L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ZNF222 7673 genome.wustl.edu 37 19 44536308 44536308 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44536308 44536308 C G SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.601 p.H201D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF222 HGNC ZNF266 10781 genome.wustl.edu 37 19 9524429 9524429 + Missense_Mutation SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 9524429 9524429 C T SNP ZNF266 ENST00000361151 human ensembl 70_37 -1 known missense c.1172 p.R391K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ZNF283 284349 genome.wustl.edu 37 19 44352686 44352686 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44352686 44352686 G A SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1933 p.E645K 0.949 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 ZNF283 HGNC ZNF283 284349 genome.wustl.edu 37 19 44352764 44352764 + Missense_Mutation SNP G G C TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 44352764 44352764 G C SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.2011 p.E671Q 0.870 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 ZNF283 HGNC ZNF34 80778 genome.wustl.edu 37 8 145999086 145999086 + Missense_Mutation SNP C C A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 8 145999086 145999086 C A SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known missense c.1248 p.E416D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ZNF419 79744 genome.wustl.edu 37 19 58004285 58004285 + Silent SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 58004285 58004285 C G SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known silent c.363 p.L121 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ZNF442 79973 genome.wustl.edu 37 19 12461293 12461293 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 12461293 12461293 C G SNP ZNF442 ENST00000242804 human ensembl 70_37 -1 known missense c.1106 p.R369T 0.940 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ZNF600 162966 genome.wustl.edu 37 19 53269068 53269068 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 53269068 53269068 G A SNP ZNF600 ENST00000338230 human ensembl 70_37 -1 known silent c.1941 p.F647 0.126 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ZNF660 285349 genome.wustl.edu 37 3 44636220 44636220 + Missense_Mutation SNP C C G TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 3 44636220 44636220 C G SNP ZNF660 ENST00000322734 human ensembl 70_37 +1 known missense c.535 p.Q179E 0.880 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ZNF761 388561 genome.wustl.edu 37 19 53960273 53960273 + RNA SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 19 53960273 53960273 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ZPBP2 124626 genome.wustl.edu 37 17 38024615 38024615 + Missense_Mutation SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 38024615 38024615 G A SNP ZPBP2 ENST00000348931 human ensembl 70_37 +1 known missense c.8 p.R3Q 1.000 NULL pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP2 HGNC ZZEF1 23140 genome.wustl.edu 37 17 3989912 3989912 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5df1dc1-b3b4-4856-a952-2940fd7dbf00 68a8e30b-8f14-4835-bd71-f46248ff5495 17 3989912 3989912 G A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known silent c.2380 p.L794 0.998 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC