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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABL2 0 genome.wustl.edu 37 1 179078016 179078016 + Frame_Shift_Del DEL T T - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 179078016 179078016 T - DEL ABL2 ENST00000502732 human ensembl 74_37 -1 known frame_shift_del c.2386 p.R796fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 tier1 61 0 0.00 64 14 17.95 ACPT 0 genome.wustl.edu 37 19 51294975 51294975 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 51294975 51294975 G A SNP ACPT ENST00000270593 human ensembl 74_37 +1 novel silent c.366 p.G122 0.997 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 tier1 - - 42 0 0.00 18 33 64.71 ADAM22 0 genome.wustl.edu 37 7 87757932 87757932 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 7 87757932 87757932 C T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.694 p.R232C 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 106 0 0.00 73 41 35.96 ADAMTS7 0 genome.wustl.edu 37 15 79059020 79059021 + Frame_Shift_Ins INS - - A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 15 79059020 79059021 - A INS ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known frame_shift_ins c.3233_3232 p.Y1078fs 0.032:0.024 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 tier1 32 0 0.00 28 9 24.32 ALDH6A1 0 genome.wustl.edu 37 14 74538953 74538953 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 14 74538953 74538953 G A SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.301 p.R101C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 tier1 - - 60 0 0.00 65 21 24.42 AMACR 0 genome.wustl.edu 37 5 34005964 34005964 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 5 34005964 34005964 C G SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.288 p.Q96H 0.014 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 tier1 - - 81 0 0.00 139 24 14.72 ANTXR1 0 genome.wustl.edu 37 2 69350194 69350194 + Missense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 69350194 69350194 C A SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.848 p.A283E 0.995 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 tier1 - - 104 0 0.00 117 20 14.60 ARHGEF4 0 genome.wustl.edu 37 2 131704217 131704217 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 131704217 131704217 C T SNP ARHGEF4 ENST00000409359 human ensembl 74_37 +1 putative missense c.3004 p.R1002C 0.000 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 69 0 0.00 49 38 43.68 ASNA1 0 genome.wustl.edu 37 19 12858230 12858230 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 12858230 12858230 G A SNP ASNA1 ENST00000357332 human ensembl 74_37 +1 known missense c.739 p.V247I 1.000 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 - no_errors ASNA1 HGNC ENSG00000198356 tier1 - - 60 0 0.00 49 15 23.44 ATP7B 0 genome.wustl.edu 37 13 52532476 52532476 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 13 52532476 52532476 G A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known silent c.2326 p.L776 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 49 0 0.00 45 35 43.75 AXIN2 0 genome.wustl.edu 37 17 63532501 63532501 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 63532501 63532501 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.2078 p.T693M 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 23 0 0.00 15 10 40.00 C16orf11 0 genome.wustl.edu 37 16 615155 615155 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 615155 615155 G A SNP C16orf11 ENST00000409413 human ensembl 74_37 +1 known missense c.1564 p.D522N 1.000 NULL NULL - no_errors C16orf11 HGNC ENSG00000161992 tier1 - - 50 0 0.00 34 15 30.61 C1orf112 0 genome.wustl.edu 37 1 169822830 169822830 + RNA SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 169822830 169822830 C G SNP C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.086 - - - no_errors C1orf112 HGNC ENSG00000000460 tier1 - - 121 0 0.00 140 22 13.58 CACNA1C 0 genome.wustl.edu 37 12 2719829 2719829 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 2719829 2719829 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.3681 p.V1227 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 46 0 0.00 71 10 12.35 CALHM1 0 genome.wustl.edu 37 10 105218333 105218333 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 105218333 105218333 G A SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known missense c.176 p.A59V 0.998 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 tier1 - - 54 0 0.00 28 8 21.62 CBFA2T2 0 genome.wustl.edu 37 20 32224499 32224499 + Missense_Mutation SNP T T A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 20 32224499 32224499 T A SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known missense c.1309 p.F437I 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 tier1 - - 106 0 0.00 193 21 9.81 CD163 0 genome.wustl.edu 37 12 7632521 7632521 + Nonsense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 7632521 7632521 C A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known nonsense c.3415 p.G1139* 0.383 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 52 0 0.00 59 9 13.24 CDC42BPG 0 genome.wustl.edu 37 11 64603002 64603002 + Missense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 64603002 64603002 C A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.1850 p.R617L 0.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_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,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 57 0 0.00 74 5 6.33 CDCA8 0 genome.wustl.edu 37 1 38171191 38171193 + In_Frame_Del DEL TGC TGC - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 38171191 38171193 TGC - DEL CDCA8 ENST00000327331 human ensembl 74_37 +1 known in_frame_del c.663_665 p.A222in_frame_del 0.526:0.993:0.997 pfam_Cell_div_borealin pfam_Cell_div_borealin,pfam_Borealin-like_N - no_errors CDCA8 HGNC ENSG00000134690 tier1 65 0 0.00 46 8 14.81 CDK5RAP3 0 genome.wustl.edu 37 17 46058871 46058871 + RNA SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 46058871 46058871 C A SNP CDK5RAP3 ENST00000578663 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 - - 47 0 0.00 45 19 29.69 CES1 0 genome.wustl.edu 37 16 55844441 55844441 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 55844441 55844441 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.1306 p.R436W 0.047 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 126 0 0.00 114 39 25.32 CHRNE 0 genome.wustl.edu 37 17 4805288 4805288 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 4805288 4805288 C T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.439 p.V147I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 tier1 - - 60 0 0.00 47 8 14.55 CHST1 0 genome.wustl.edu 37 11 45671862 45671862 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 45671862 45671862 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.612 p.A204 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 34 0 0.00 81 19 19.00 COL11A1 0 genome.wustl.edu 37 1 103461563 103461563 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 103461563 103461563 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.2313 p.P771 0.995 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 92 0 0.00 73 16 17.98 COL12A1 0 genome.wustl.edu 37 6 75801105 75801105 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 75801105 75801105 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.8686 p.G2896R 1.000 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 70 0 0.00 60 29 32.58 COL5A1 0 genome.wustl.edu 37 9 137688741 137688741 + Frame_Shift_Del DEL C C - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 9 137688741 137688741 C - DEL COL5A1 ENST00000371817 human ensembl 74_37 +1 known frame_shift_del c.2892 p.P966fs 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 58 0 0.00 33 10 23.26 CRYBB3 0 genome.wustl.edu 37 22 25601265 25601265 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 22 25601265 25601265 G A SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known missense c.406 p.V136M 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB3 HGNC ENSG00000100053 tier1 - - 33 0 0.00 26 19 42.22 CSPG4 0 genome.wustl.edu 37 15 75982642 75982642 + Missense_Mutation SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 15 75982642 75982642 A G SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.764 p.I255T 0.900 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 30 0 0.00 23 4 14.81 CTNNA3 0 genome.wustl.edu 37 10 67680207 67680208 + Frame_Shift_Ins INS - - T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 67680207 67680208 - T INS CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_ins c.2569_2568 p.P856fs 1.000:0.996 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 87 0 0.00 65 14 17.72 CUL9 0 genome.wustl.edu 37 6 43173003 43173003 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 43173003 43173003 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.4635 p.M1545I 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 190 0 0.00 186 10 5.10 CYP2U1 0 genome.wustl.edu 37 4 108866479 108866479 + Missense_Mutation SNP G G C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 4 108866479 108866479 G C SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.844 p.G282R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2D-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 tier1 - - 65 0 0.00 72 11 13.25 DAB1 0 genome.wustl.edu 37 1 57602304 57602304 + Missense_Mutation SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 57602304 57602304 G T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.218 p.A73D 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 62 0 0.00 50 6 10.71 DCAF12L1 0 genome.wustl.edu 37 X 125686209 125686209 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 125686209 125686209 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.383 p.G128D 0.014 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 72 0 0.00 39 22 36.07 DDI2 0 genome.wustl.edu 37 1 15956924 15956924 + Missense_Mutation SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 15956924 15956924 A G SNP DDI2 ENST00000480945 human ensembl 74_37 +1 known missense c.373 p.I125V 0.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin_dom,superfamily_Peptidase_aspartic_dom,pfscan_Ubiquitin_supergroup - no_errors DDI2 HGNC ENSG00000197312 tier1 - - 72 0 0.00 74 23 23.71 DHX35 0 genome.wustl.edu 37 20 37620129 37620129 + Missense_Mutation SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 20 37620129 37620129 G T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.483 p.M161I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 - - 55 0 0.00 110 11 9.09 DLL4 0 genome.wustl.edu 37 15 41228736 41228736 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 15 41228736 41228736 C T SNP DLL4 ENST00000249749 human ensembl 74_37 +1 known silent c.1551 p.C517 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 tier1 - - 13 0 0.00 3 7 70.00 DNAH8 0 genome.wustl.edu 37 6 38810490 38810490 + Silent SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 38810490 38810490 C G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.4005 p.L1335 0.895 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 82 0 0.00 69 6 8.00 DOCK7 0 genome.wustl.edu 37 1 63084381 63084381 + Frame_Shift_Del DEL A A - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 63084381 63084381 A - DEL DOCK7 ENST00000251157 human ensembl 74_37 -1 known frame_shift_del c.1678 p.Y560fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 77 0 0.00 53 14 20.90 DUSP9 0 genome.wustl.edu 37 X 152915606 152915607 + Frame_Shift_Ins INS - - G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 152915606 152915607 - G INS DUSP9 ENST00000342782 human ensembl 74_37 +1 known frame_shift_ins c.1001_1002 p.Q336fs 1.000:1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 240 0 0.00 142 36 20.22 DUSP9 0 genome.wustl.edu 37 X 152915610 152915610 + Silent SNP G G C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 152915610 152915610 G C SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known silent c.1005 p.G335 0.998 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 - - 222 0 0.00 117 53 31.18 EIF2AK2 0 genome.wustl.edu 37 2 37362652 37362652 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 37362652 37362652 C T SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known missense c.760 p.E254K 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 tier1 - - 122 0 0.00 102 30 22.56 ELANE 0 genome.wustl.edu 37 19 852345 852345 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 852345 852345 G A SNP ELANE ENST00000263621 human ensembl 74_37 +1 known missense c.17 p.R6Q 0.001 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 tier1 - - 26 0 0.00 14 12 46.15 ELMOD1 0 genome.wustl.edu 37 11 107501189 107501189 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 107501189 107501189 C T SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known missense c.64 p.R22C 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 tier1 rs201382091 - 15 0 0.00 13 5 27.78 EMP1 0 genome.wustl.edu 37 12 13367542 13367542 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 13367542 13367542 G A SNP EMP1 ENST00000256951 human ensembl 74_37 +1 known missense c.391 p.G131S 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 tier1 rs35705378 - 116 0 0.00 114 56 32.94 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117785 117785 + Missense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 GL000205.1 117785 117785 C A SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.416 p.A139E NULL NULL pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 60 0 0.00 56 16 22.22 ENSG00000233739 0 genome.wustl.edu 37 22 38469919 38469919 + RNA SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 22 38469919 38469919 C T SNP ENSG00000233739 ENST00000445483 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1039K5.13 Clone_based_vega_gene ENSG00000233739 tier1 - - 18 0 0.00 13 6 31.58 ENSG00000243349 0 genome.wustl.edu 37 10 45642902 45642902 + RNA SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 45642902 45642902 C G SNP ENSG00000243349 ENST00000427229 human ensembl 74_37 +1 known rna NULL NULL 0.280 - - - no_errors RP11-445N18.7 Clone_based_vega_gene ENSG00000243349 tier1 - - 39 0 0.00 24 6 20.00 ENSG00000255470 0 genome.wustl.edu 37 11 18210819 18210819 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 18210819 18210819 G A SNP ENSG00000255470 ENST00000527671 human ensembl 74_37 -1 novel silent c.99 p.S33 0.989 NULL NULL - no_errors RP11-113D6.6 Clone_based_vega_gene ENSG00000255470 tier1 - - 21 0 0.00 25 9 26.47 FAT3 0 genome.wustl.edu 37 11 92564949 92564950 + Frame_Shift_Ins INS - - C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 92564949 92564950 - C INS FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_ins c.9643_9644 p.L3216fs 0.104:0.155 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 26 0 0.00 16 6 27.27 FERMT1 0 genome.wustl.edu 37 20 6057066 6057066 + RNA SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 20 6057066 6057066 C A SNP FERMT1 ENST00000478194 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT1 HGNC ENSG00000101311 tier1 - - 20 0 0.00 28 9 24.32 FLG 0 genome.wustl.edu 37 1 152277526 152277526 + Missense_Mutation SNP G G C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 152277526 152277526 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9836 p.A3279G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 428 0 0.00 471 97 17.08 FOXC2 0 genome.wustl.edu 37 16 86601239 86601239 + Nonsense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 86601239 86601239 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known nonsense c.298 p.Q100* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 tier1 - - 66 0 0.00 44 26 37.14 FRK 0 genome.wustl.edu 37 6 116381464 116381464 + Missense_Mutation SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 116381464 116381464 A G SNP FRK ENST00000606080 human ensembl 74_37 -1 known missense c.11 p.I4T 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 tier1 - - 52 0 0.00 41 36 46.75 FZD6 0 genome.wustl.edu 37 8 104336873 104336873 + Missense_Mutation SNP A A T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 8 104336873 104336873 A T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.539 p.Q180L 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 - - 72 0 0.00 64 38 37.25 GALR1 0 genome.wustl.edu 37 18 74962958 74962958 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 18 74962958 74962958 G A SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.454 p.A152T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 tier1 - - 35 0 0.00 18 20 52.63 GGT5 0 genome.wustl.edu 37 22 24621553 24621553 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 22 24621553 24621553 C T SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known missense c.1297 p.E433K 0.986 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 tier1 - - 19 0 0.00 15 9 37.50 GINM1 0 genome.wustl.edu 37 6 149903626 149903626 + Nonsense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 149903626 149903626 G A SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known nonsense c.768 p.W256* 1.000 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 tier1 - - 147 0 0.00 108 23 17.56 GPHN 0 genome.wustl.edu 37 14 67578617 67578617 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 14 67578617 67578617 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.1453 p.R485W 1.000 pfam_MoeA_linker/N,superfamily_MoeA_linker/N pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 tier1 - - 57 0 0.00 35 9 20.45 GPR45 0 genome.wustl.edu 37 2 105858503 105858503 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 105858503 105858503 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.188 p.P63L 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 tier1 - - 84 0 0.00 84 26 23.64 GPR56 0 genome.wustl.edu 37 16 57695840 57695840 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 57695840 57695840 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.1914 p.V638 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 43 0 0.00 27 21 43.75 GRB14 0 genome.wustl.edu 37 2 165404265 165404265 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 165404265 165404265 G A SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known missense c.386 p.T129M 0.993 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 - - 59 0 0.00 20 46 69.70 GRIK3 0 genome.wustl.edu 37 1 37315908 37315908 + RNA SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 37315908 37315908 T C SNP GRIK3 ENST00000479620 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 64 0 0.00 29 27 48.21 GRM6 0 genome.wustl.edu 37 5 178413301 178413301 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 5 178413301 178413301 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1954 p.A652T 0.011 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 rs150850494 - 23 0 0.00 11 12 52.17 HERC2 0 genome.wustl.edu 37 15 28443585 28443585 + Silent SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 15 28443585 28443585 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.7950 p.S2650 0.401 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 98 0 0.00 78 12 13.33 HFM1 0 genome.wustl.edu 37 1 91816302 91816302 + Silent SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 91816302 91816302 A G SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known silent c.2199 p.S733 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 53 0 0.00 37 33 47.14 HGS 0 genome.wustl.edu 37 17 79652704 79652704 + Missense_Mutation SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 79652704 79652704 G T SNP HGS ENST00000329138 human ensembl 74_37 +1 known missense c.107 p.R36L 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_Ubi-bd_Hrs_VPS27,pfscan_VHS pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 tier1 - - 54 0 0.00 36 18 33.33 HPR 0 genome.wustl.edu 37 16 72108257 72108257 + Missense_Mutation SNP T T A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 72108257 72108257 T A SNP HPR ENST00000228226 human ensembl 74_37 +1 known missense c.277 p.Y93N 0.036 pirsf_Haptoglobin,superfamily_Sushi_SCR_CCP pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 tier1 - - 62 0 0.00 29 28 49.12 HTR3C 0 genome.wustl.edu 37 3 183774681 183774681 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 3 183774681 183774681 G A SNP HTR3C ENST00000318351 human ensembl 74_37 +1 known silent c.408 p.T136 0.008 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 tier1 - - 95 0 0.00 89 39 30.47 IARS2 0 genome.wustl.edu 37 1 220275603 220275604 + Frame_Shift_Del DEL AC AC - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 220275603 220275604 AC - DEL IARS2 ENST00000302637 human ensembl 74_37 +1 known frame_shift_del c.683_684 p.Y228fs 1.000:1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 tier1 118 0 0.00 120 17 12.41 ICK 0 genome.wustl.edu 37 6 52897372 52897372 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 52897372 52897372 G A SNP ICK ENST00000350082 human ensembl 74_37 -1 known silent c.237 p.F79 0.999 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors ICK HGNC ENSG00000112144 tier1 - - 23 0 0.00 27 9 25.00 IL16 0 genome.wustl.edu 37 15 81584950 81584950 + Nonsense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 15 81584950 81584950 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known nonsense c.1474 p.R492* 0.003 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 38 0 0.00 26 18 40.91 ITGA11 0 genome.wustl.edu 37 15 68649513 68649513 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 15 68649513 68649513 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.725 p.T242M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 tier1 - - 50 0 0.00 24 9 27.27 ITGB2 0 genome.wustl.edu 37 21 46320324 46320324 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 21 46320324 46320324 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.808 p.A270T 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 tier1 rs148775158 - 55 0 0.00 42 5 10.64 KCTD19 0 genome.wustl.edu 37 16 67329221 67329221 + Nonsense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 67329221 67329221 G A SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known nonsense c.1336 p.R446* 1.000 superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 23 0 0.00 13 18 58.06 KDM5B 0 genome.wustl.edu 37 1 202710621 202710621 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 202710621 202710621 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.2927 p.R976H 1.000 pfam_Lys_sp_deMease_like_dom 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 ENSG00000117139 tier1 - - 32 0 0.00 35 13 27.08 KIAA1033 0 genome.wustl.edu 37 12 105534783 105534783 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 105534783 105534783 G A SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.1667 p.R556Q 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 147 0 0.00 56 86 60.56 KIAA1919 0 genome.wustl.edu 37 6 111588062 111588062 + Missense_Mutation SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 111588062 111588062 G T SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.1297 p.G433W 0.013 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 40 0 0.00 36 7 16.28 KRT6B 0 genome.wustl.edu 37 12 52842677 52842677 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 52842677 52842677 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.1152 p.I384 0.997 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 36 0 0.00 39 4 9.30 KRTAP4-8 0 genome.wustl.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 39254054 39254054 A T SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.283 p.C95S 0.992 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 33 0 0.00 45 7 13.46 LAMA3 0 genome.wustl.edu 37 18 21500903 21500903 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 18 21500903 21500903 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.7928 p.R2643H 0.014 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 42 0 0.00 70 6 7.89 LANCL2 0 genome.wustl.edu 37 7 55479697 55479697 + Nonsense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 7 55479697 55479697 C G SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known nonsense c.923 p.S308* 0.997 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 tier1 - - 69 0 0.00 108 9 7.69 LHCGR 0 genome.wustl.edu 37 2 48915121 48915121 + Missense_Mutation SNP T T G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 48915121 48915121 T G SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1815 p.K605N 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 81 0 0.00 48 36 42.86 LPCAT3 0 genome.wustl.edu 37 12 7086590 7086590 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 7086590 7086590 C G SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.1286 p.W429S 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 tier1 - - 38 0 0.00 49 11 18.33 LRIT2 0 genome.wustl.edu 37 10 85982204 85982204 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 85982204 85982204 C T SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known silent c.1155 p.V385 0.105 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 50 0 0.00 40 6 13.04 LRIT2 0 genome.wustl.edu 37 10 85985176 85985176 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 85985176 85985176 C G SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.101 p.S34T 0.015 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 24 0 0.00 11 11 50.00 LRRTM1 0 genome.wustl.edu 37 2 80529510 80529510 + Nonsense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 80529510 80529510 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known nonsense c.1435 p.Q479* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 61 0 0.00 59 6 9.23 MACF1 0 genome.wustl.edu 37 1 39927558 39927558 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 39927558 39927558 T C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.15350 p.F5117S 1.000 pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 186 0 0.00 86 89 50.86 MAGEC1 0 genome.wustl.edu 37 X 140996473 140996473 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 140996473 140996473 G A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3283 p.V1095I 0.000 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 rs147835720 - 191 0 0.00 99 30 23.26 MCOLN3 0 genome.wustl.edu 37 1 85506725 85506725 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 85506725 85506725 C G SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known missense c.364 p.V122L 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 tier1 - - 111 0 0.00 94 15 13.76 MEIS1 0 genome.wustl.edu 37 2 66796231 66796231 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 66796231 66796231 C G SNP MEIS1 ENST00000272369 human ensembl 74_37 +1 known missense c.1164 p.H388Q 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 tier1 - - 132 0 0.00 129 14 9.79 MELK 0 genome.wustl.edu 37 9 36677200 36677200 + Missense_Mutation SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 9 36677200 36677200 A G SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.1822 p.T608A 1.000 pfam_KA1_dom,superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 tier1 - - 106 0 0.00 74 15 16.85 MMP2 0 genome.wustl.edu 37 16 55522477 55522477 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 55522477 55522477 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.855 p.N285 0.486 pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 20 0 0.00 16 5 23.81 MMP25 0 genome.wustl.edu 37 16 3100528 3100528 + Silent SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 3100528 3100528 C G SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known silent c.642 p.T214 0.979 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 tier1 - - 44 0 0.00 41 14 25.45 MPDZ 0 genome.wustl.edu 37 9 13205975 13205975 + Missense_Mutation SNP A A T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 9 13205975 13205975 A T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1414 p.S472T 0.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 29 0 0.00 18 4 18.18 MTFR1 0 genome.wustl.edu 37 8 66594568 66594568 + RNA SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 8 66594568 66594568 G A SNP MTFR1 ENST00000522239 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MTFR1 HGNC ENSG00000066855 tier1 - - 36 0 0.00 32 7 17.95 MUC6 0 genome.wustl.edu 37 11 1017056 1017058 + In_Frame_Del DEL AGA AGA - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 1017056 1017058 AGA 0 DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.5745_5743 p.S1915in_frame_del 0.006:0.010:0.004 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 663 0 0.00 627 46 6.84 NASP 0 genome.wustl.edu 37 1 46056902 46056902 + Missense_Mutation SNP G G C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 46056902 46056902 G C SNP NASP ENST00000350030 human ensembl 74_37 +1 known missense c.67 p.D23H 1.000 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 tier1 - - 95 0 0.00 100 7 6.54 NCOA1 0 genome.wustl.edu 37 2 24930741 24930741 + Missense_Mutation SNP T T G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 24930741 24930741 T G SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.2402 p.L801R 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 44 0 0.00 35 28 44.44 NIPBL 0 genome.wustl.edu 37 5 37064956 37064956 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 5 37064956 37064956 C G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.8377 p.R2793G 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 63 0 0.00 152 20 11.63 NOTCH1 0 genome.wustl.edu 37 9 139391807 139391807 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 9 139391807 139391807 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.6384 p.P2128 0.034 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 45 0 0.00 31 8 20.51 OR10K1 0 genome.wustl.edu 37 1 158436142 158436142 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 158436142 158436142 C T SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.791 p.T264I 0.392 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 - - 98 0 0.00 82 20 19.61 OR4B1 0 genome.wustl.edu 37 11 48239183 48239183 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 48239183 48239183 G A SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known silent c.822 p.T274 0.029 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 OR4B1 HGNC ENSG00000175619 tier1 - - 72 0 0.00 56 20 25.97 OR4C6 0 genome.wustl.edu 37 11 55432832 55432832 + Silent SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 55432832 55432832 T C SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.190 p.L64 0.096 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 OR4C6 HGNC ENSG00000181903 tier1 - - 101 0 0.00 48 39 44.83 OR52E2 0 genome.wustl.edu 37 11 5080542 5080543 + Frame_Shift_Ins INS - - A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 5080542 5080543 - A INS OR52E2 ENST00000321522 human ensembl 74_37 -1 known frame_shift_ins c.316_315 p.I105fs 0.981:0.966 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 24 0 0.00 11 6 35.29 OR7A5 0 genome.wustl.edu 37 19 14938698 14938698 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 14938698 14938698 G A SNP OR7A5 ENST00000322301 human ensembl 74_37 -1 known missense c.356 p.A119V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A5 HGNC ENSG00000188269 tier1 - - 66 0 0.00 48 17 26.15 OR8H2 0 genome.wustl.edu 37 11 55873034 55873034 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 55873034 55873034 C T SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known silent c.516 p.N172 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 tier1 - - 194 0 0.00 136 37 21.39 OR8U1 0 genome.wustl.edu 37 11 56143861 56143861 + Silent SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 56143861 56143861 C A SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known silent c.762 p.T254 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 tier1 - - 83 0 0.00 42 20 32.26 P2RY10 0 genome.wustl.edu 37 X 78217008 78217008 + Nonsense_Mutation SNP A A T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 78217008 78217008 A T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known nonsense c.991 p.K331* 0.723 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 tier1 - - 136 0 0.00 43 33 43.42 P4HA3 0 genome.wustl.edu 37 11 74015451 74015451 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 74015451 74015451 G A SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known silent c.207 p.Y69 0.978 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 tier1 - - 79 0 0.00 85 17 16.67 PBX1 0 genome.wustl.edu 37 1 164769117 164769117 + Missense_Mutation SNP T T A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 164769117 164769117 T A SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.692 p.L231Q 1.000 pfam_PBX,superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 24 0 0.00 36 5 12.20 PCDH17 0 genome.wustl.edu 37 13 58207693 58207693 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 13 58207693 58207693 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1013 p.T338M 1.000 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 PCDH17 HGNC ENSG00000118946 tier1 - - 67 0 0.00 43 24 35.82 PCSK7 0 genome.wustl.edu 37 11 117100483 117100483 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 117100483 117100483 G A SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known silent c.78 p.A26 0.163 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 tier1 - - 19 0 0.00 11 6 35.29 PDE10A 0 genome.wustl.edu 37 6 165806201 165806201 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 165806201 165806201 C T SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known silent c.1590 p.A530 0.998 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 46 0 0.00 32 16 33.33 PDE4DIP 0 genome.wustl.edu 37 1 144917553 144917553 + Silent SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 144917553 144917553 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.1551 p.D517 0.968 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 293 0 0.00 350 33 8.62 PHLDB2 0 genome.wustl.edu 37 3 111632337 111632337 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 3 111632337 111632337 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1507 p.D503N 0.976 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 72 0 0.00 78 7 8.24 PHRF1 0 genome.wustl.edu 37 11 608188 608188 + Missense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 608188 608188 C A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.2732 p.A911D 0.001 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 37 0 0.00 41 6 12.77 PJA2 0 genome.wustl.edu 37 5 108679918 108679918 + Silent SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 5 108679918 108679918 T C SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known silent c.1974 p.K658 0.996 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 tier1 - - 30 0 0.00 6 16 72.73 PLXNA4 0 genome.wustl.edu 37 7 131872331 131872331 + Frame_Shift_Del DEL C C - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 7 131872331 131872331 C - DEL PLXNA4 ENST00000321063 human ensembl 74_37 -1 known frame_shift_del c.2892 p.M966fs 0.184 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 189 0 0.00 139 14 9.15 PLXNC1 0 genome.wustl.edu 37 12 94692426 94692426 + Missense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 94692426 94692426 C A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.4093 p.L1365I 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 tier1 - - 64 0 0.00 42 12 22.22 PPP2R4 0 genome.wustl.edu 37 9 131893899 131893899 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 9 131893899 131893899 G A SNP PPP2R4 ENST00000452489 human ensembl 74_37 +1 known silent c.546 p.T182 0.997 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 tier1 - - 134 0 0.00 94 28 22.95 PRKG2 0 genome.wustl.edu 37 4 82061719 82061719 + Silent SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 4 82061719 82061719 G T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known silent c.1512 p.I504 0.989 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 91 0 0.00 53 18 25.35 PTPN5 0 genome.wustl.edu 37 11 18751350 18751350 + Nonsense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 18751350 18751350 G A SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known nonsense c.1345 p.R449* 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 tier1 - - 58 0 0.00 47 39 45.35 PYGM 0 genome.wustl.edu 37 11 64520607 64520607 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 64520607 64520607 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.1456 p.G486S 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 tier1 - - 233 0 0.00 282 32 10.19 RAD23B 0 genome.wustl.edu 37 9 110068885 110068885 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 9 110068885 110068885 C G SNP RAD23B ENST00000358015 human ensembl 74_37 +1 known missense c.454 p.P152A 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 tier1 - - 24 0 0.00 32 11 25.58 RARG 0 genome.wustl.edu 37 12 53609489 53609489 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 53609489 53609489 C T SNP RARG ENST00000394426 human ensembl 74_37 -1 known missense c.274 p.V92M 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 tier1 - - 63 0 0.00 61 9 12.86 RELN 0 genome.wustl.edu 37 7 103338415 103338415 + Nonsense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 7 103338415 103338415 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known nonsense c.1028 p.W343* 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 148 0 0.00 149 26 14.86 REST 0 genome.wustl.edu 37 4 57777112 57777112 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 4 57777112 57777112 C G SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.308 p.P103R 0.008 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 tier1 - - 58 0 0.00 31 19 38.00 RGAG1 0 genome.wustl.edu 37 X 109695148 109695148 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 109695148 109695148 G A SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.1303 p.G435R 0.031 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 tier1 - - 140 0 0.00 77 32 29.36 RIMKLA 0 genome.wustl.edu 37 1 42865128 42865128 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 42865128 42865128 C T SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.217 p.R73W 0.997 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 13 0 0.00 16 4 20.00 RNF214 0 genome.wustl.edu 37 11 117153873 117153873 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 117153873 117153873 G A SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known missense c.1993 p.V665I 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 tier1 - - 54 0 0.00 43 8 15.69 SALL3 0 genome.wustl.edu 37 18 76753643 76753643 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 18 76753643 76753643 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1652 p.R551H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 9 0 0.00 3 6 66.67 SCN2B 0 genome.wustl.edu 37 11 118047103 118047103 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 118047103 118047103 G A SNP SCN2B ENST00000278947 human ensembl 74_37 -1 known missense c.44 p.T15M 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 tier1 rs201373014 - 75 0 0.00 53 14 20.90 SEC14L4 0 genome.wustl.edu 37 22 30886179 30886179 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 22 30886179 30886179 T C SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known missense c.1136 p.Y379C 1.000 superfamily_GOLD,pfscan_GOLD 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 ENSG00000133488 tier1 - - 49 0 0.00 65 21 24.42 SETD1A 0 genome.wustl.edu 37 16 30976135 30976135 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 30976135 30976135 C G SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.1072 p.Q358E 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 tier1 - - 134 0 0.00 104 42 28.77 SFTPA1 0 genome.wustl.edu 37 10 81373717 81373717 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 81373717 81373717 C T SNP SFTPA1 ENST00000419470 human ensembl 74_37 +1 known missense c.640 p.R214C 0.020 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA1 HGNC ENSG00000122852 tier1 - - 177 0 0.00 142 27 15.98 SH3BP4 0 genome.wustl.edu 37 2 235951043 235951043 + Missense_Mutation SNP A A T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 235951043 235951043 A T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.1630 p.N544Y 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 tier1 - - 52 0 0.00 53 14 20.90 SLC13A5 0 genome.wustl.edu 37 17 6606380 6606380 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 6606380 6606380 T C SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.625 p.T209A 0.971 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 tier1 - - 82 0 0.00 56 37 39.78 SLC26A6 0 genome.wustl.edu 37 3 48669462 48669462 + Missense_Mutation SNP T T A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 3 48669462 48669462 T A SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known missense c.601 p.I201F 0.992 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 tier1 - - 52 0 0.00 23 18 43.90 SLC45A1 0 genome.wustl.edu 37 1 8390650 8390650 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 8390650 8390650 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1199 p.S400L 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 tier1 - - 31 0 0.00 28 5 15.15 SLITRK5 0 genome.wustl.edu 37 13 88327784 88327784 + Silent SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 13 88327784 88327784 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.141 p.I47 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 84 0 0.00 74 73 49.66 SLU7 0 genome.wustl.edu 37 5 159834541 159834541 + Missense_Mutation SNP G G C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 5 159834541 159834541 G C SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known missense c.1067 p.S356C 1.000 pfam_Slu7 pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 tier1 - - 58 0 0.00 41 15 26.79 SORCS1 0 genome.wustl.edu 37 10 108489828 108489828 + Missense_Mutation SNP T T G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 108489828 108489828 T G SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1004 p.E335A 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 106 0 0.00 65 22 25.29 SPAG11B 0 genome.wustl.edu 37 8 7320265 7320265 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 8 7320265 7320265 G A SNP SPAG11B ENST00000398462 human ensembl 74_37 -1 known missense c.178 p.R60W 0.000 pfam_Sperm_Ag_HE2 pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 tier1 rs138861652 - 20 0 0.00 31 8 20.51 SPOCK3 0 genome.wustl.edu 37 4 167713420 167713420 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 4 167713420 167713420 T C SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.619 p.R207G 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 58 0 0.00 34 4 10.53 STK24 0 genome.wustl.edu 37 13 99171621 99171621 + Missense_Mutation SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 13 99171621 99171621 A G SNP STK24 ENST00000376547 human ensembl 74_37 -1 known missense c.185 p.V62A 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK24 HGNC ENSG00000102572 tier1 - - 240 0 0.00 181 183 50.27 TAF3 0 genome.wustl.edu 37 10 8006454 8006454 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 8006454 8006454 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known silent c.981 p.T327 0.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 18 0 0.00 10 3 23.08 TALDO1 0 genome.wustl.edu 37 11 764878 764878 + RNA SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 764878 764878 C T SNP TALDO1 ENST00000532202 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TALDO1 HGNC ENSG00000177156 tier1 - - 47 0 0.00 26 18 40.91 TBL1X 0 genome.wustl.edu 37 X 9656115 9656115 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 9656115 9656115 T C SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.416 p.M139T 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 tier1 - - 35 0 0.00 9 6 40.00 TCF25 0 genome.wustl.edu 37 16 89962425 89962425 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 16 89962425 89962425 C T SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.956 p.A319V 0.997 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 24 0 0.00 24 5 17.24 TCTN2 0 genome.wustl.edu 37 12 124175084 124175084 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 124175084 124175084 C G SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.896 p.S299C 1.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 tier1 - - 41 0 0.00 30 25 45.45 TFDP3 0 genome.wustl.edu 37 X 132351471 132351471 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 132351471 132351471 C T SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known missense c.817 p.D273N 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 tier1 - - 124 0 0.00 92 9 8.91 TGIF2LX 0 genome.wustl.edu 37 X 89177509 89177509 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 X 89177509 89177509 T C SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.425 p.V142A 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 45 0 0.00 27 13 32.50 THSD7A 0 genome.wustl.edu 37 7 11521609 11521609 + Missense_Mutation SNP C C G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 7 11521609 11521609 C G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.1823 p.G608A 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 34 0 0.00 26 5 16.13 THSD7B 0 genome.wustl.edu 37 2 137872775 137872775 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 137872775 137872775 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1281 p.T427 0.110 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 26 0 0.00 6 24 80.00 TMC6 0 genome.wustl.edu 37 17 76120642 76120642 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 76120642 76120642 G A SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known missense c.854 p.A285V 0.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 26 0 0.00 19 7 26.92 TMEM132D 0 genome.wustl.edu 37 12 129694197 129694197 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 12 129694197 129694197 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.1311 p.I437 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 44 0 0.00 50 14 21.88 TP53 0 genome.wustl.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 17 7577498 7577498 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.782+1 e6+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 35 0 0.00 2 20 90.91 TRIB1 0 genome.wustl.edu 37 8 126448603 126448603 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 8 126448603 126448603 T C SNP TRIB1 ENST00000311922 human ensembl 74_37 +1 known missense c.1009 p.W337R 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB1 HGNC ENSG00000173334 tier1 - - 62 0 0.00 85 17 16.67 TTC3 0 genome.wustl.edu 37 21 38573747 38573747 + Nonsense_Mutation SNP A A T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 21 38573747 38573747 A T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known nonsense c.5950 p.K1984* 0.964 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 94 0 0.00 56 22 28.21 TTN 0 genome.wustl.edu 37 2 179465771 179465771 + Silent SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 179465771 179465771 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.48156 p.A16052 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 92 0 0.00 93 38 29.01 TTN 0 genome.wustl.edu 37 2 179478615 179478615 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 179478615 179478615 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.41691 p.D13897 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 87 0 0.00 78 69 46.62 TTN 0 genome.wustl.edu 37 2 179496952 179496952 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 179496952 179496952 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.35965 p.D11989N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 21 0 0.00 13 4 23.53 TTN 0 genome.wustl.edu 37 2 179647001 179647001 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 179647001 179647001 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.3318 p.G1106 0.021 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 rs141768043 - 48 0 0.00 59 20 25.32 UGT1A4 0 genome.wustl.edu 37 2 234676577 234676577 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 2 234676577 234676577 T C SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.1082 p.L361P 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 tier1 - - 93 0 0.00 85 9 9.57 UPK1A 0 genome.wustl.edu 37 19 36166890 36166890 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 36166890 36166890 G A SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known missense c.617 p.R206H 0.986 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 tier1 - - 45 0 0.00 34 9 20.93 VAV1 0 genome.wustl.edu 37 19 6772883 6772883 + Missense_Mutation SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 6772883 6772883 G T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.65 p.R22L 0.999 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 - - 43 0 0.00 44 7 13.73 VPS13D 0 genome.wustl.edu 37 1 12374367 12374367 + Missense_Mutation SNP G G T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 1 12374367 12374367 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.7131 p.Q2377H 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 26 0 0.00 18 6 25.00 VSTM4 0 genome.wustl.edu 37 10 50315892 50315892 + Silent SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 50315892 50315892 G A SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known silent c.204 p.F68 0.004 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 tier1 - - 39 0 0.00 19 13 40.62 ZDHHC14 0 genome.wustl.edu 37 6 158053874 158053874 + Missense_Mutation SNP C C A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 6 158053874 158053874 C A SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.712 p.Q238K 0.992 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 tier1 - - 391 0 0.00 306 74 19.47 ZIC4 0 genome.wustl.edu 37 3 147108992 147108992 + Missense_Mutation SNP G G A TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 3 147108992 147108992 G A SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.880 p.R294C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 45 0 0.00 39 6 13.33 ZIM3 0 genome.wustl.edu 37 19 57646962 57646962 + Missense_Mutation SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 57646962 57646962 T C SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known missense c.743 p.E248G 0.980 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 ZIM3 HGNC ENSG00000141946 tier1 - - 75 0 0.00 87 22 20.18 ZNF300 0 genome.wustl.edu 37 5 150275502 150275502 + Silent SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 5 150275502 150275502 A G SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known silent c.1347 p.G449 0.598 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 ZNF300 HGNC ENSG00000145908 tier1 - - 48 0 0.00 27 25 48.08 ZNF341 0 genome.wustl.edu 37 20 32369095 32369095 + Splice_Site SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 20 32369095 32369095 A G SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known splice_site c.1623-2 e11-2 0.992 - - - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 124 0 0.00 174 68 27.98 ZNF408 0 genome.wustl.edu 37 11 46724583 46724583 + Missense_Mutation SNP C C T TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 11 46724583 46724583 C T SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.442 p.R148W 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 31 0 0.00 40 6 12.77 ZNF561 0 genome.wustl.edu 37 19 9721707 9721707 + Silent SNP T T G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 9721707 9721707 T G SNP ZNF561 ENST00000302851 human ensembl 74_37 -1 known silent c.630 p.A210 0.002 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 ZNF561 HGNC ENSG00000171469 tier1 - - 47 0 0.00 41 11 21.15 ZNF610 0 genome.wustl.edu 37 19 52869270 52869270 + Silent SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 52869270 52869270 T C SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known silent c.639 p.F213 0.007 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 ZNF610 HGNC ENSG00000167554 tier1 - - 46 0 0.00 33 8 19.51 ZNF623 0 genome.wustl.edu 37 8 144733543 144733543 + Missense_Mutation SNP A A G TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 8 144733543 144733543 A G SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known missense c.1501 p.N501D 0.069 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 tier1 - - 92 0 0.00 105 11 9.48 ZNF85 0 genome.wustl.edu 37 19 21132109 21132109 + Silent SNP T T C TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 19 21132109 21132109 T C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known silent c.789 p.C263 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 tier1 - - 30 0 0.00 25 12 32.43 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-RD-A8N6-01A-11D-A364-08 TCGA-RD-A8N6-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da25560c-b18a-46ff-b89f-d139aacc7107 1b771fd4-3ba8-423a-b938-174398672e56 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 15 0 0.00 11 5 31.25