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 AHCTF1 25909 genome.wustl.edu 37 1 247003181 247003181 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 247003181 247003181 C T SNP AHCTF1 ENST00000470300 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AHCTF1 HGNC ANKRD30A 91074 genome.wustl.edu 37 10 37438770 37438770 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 37438770 37438770 G A SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known silent c.1470 p.L490 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC APC 324 genome.wustl.edu 37 5 112178155 112178155 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 5 112178155 112178155 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known silent c.6864 p.Q2288 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ASPM 259266 genome.wustl.edu 37 1 197091367 197091367 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 197091367 197091367 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.3663 p.R1221 0.619 superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ATP8B5P 158381 genome.wustl.edu 37 9 35451103 35451104 + RNA INS - - A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 35451103 35451104 - A INS ATP8B5P ENST00000430846 human ensembl 70_37 +1 known rna NULL NULL 0.651:0.639 - - - no_errors ATP8B5P HGNC BOC 91653 genome.wustl.edu 37 3 112993432 112993432 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 112993432 112993432 G A SNP BOC ENST00000273395 human ensembl 70_37 +1 known missense c.1445 p.R482H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC BRAT1 221927 genome.wustl.edu 37 7 2579484 2579484 + Silent SNP G G C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 2579484 2579484 G C SNP BRAT1 ENST00000340611 human ensembl 70_37 -1 known silent c.1434 p.L478 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC CALU 813 genome.wustl.edu 37 7 128394425 128394425 + Nonsense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 128394425 128394425 C T SNP CALU ENST00000249364 human ensembl 70_37 +1 known nonsense c.331 p.R111* 1.000 pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALU HGNC CCDC132 55610 genome.wustl.edu 37 7 92905564 92905564 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 92905564 92905564 G A SNP CCDC132 ENST00000305866 human ensembl 70_37 +1 known missense c.889 p.A297T 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC CCDC28A 25901 genome.wustl.edu 37 6 139095016 139095016 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 139095016 139095016 G A SNP CCDC28A ENST00000332797 human ensembl 70_37 +1 known missense c.205 p.G69S 0.266 NULL NULL - no_errors CCDC28A HGNC CNTN1 1272 genome.wustl.edu 37 12 41316209 41316209 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 12 41316209 41316209 G A SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known missense c.379 p.E127K 0.997 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC COL20A1 57642 genome.wustl.edu 37 20 61943826 61943826 + Missense_Mutation SNP A A T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 20 61943826 61943826 A T SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known missense c.1858 p.T620S 0.928 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 COL20A1 HGNC CYGB 114757 genome.wustl.edu 37 17 74527673 74527673 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 17 74527673 74527673 C T SNP CYGB ENST00000293230 human ensembl 70_37 -1 known missense c.244 p.A82T 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC DLGAP3 58512 genome.wustl.edu 37 1 35365814 35365814 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 35365814 35365814 G A SNP DLGAP3 ENST00000235180 human ensembl 70_37 -1 known missense c.1168 p.R390C 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC EMILIN2 84034 genome.wustl.edu 37 18 2892085 2892085 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 18 2892085 2892085 G A SNP EMILIN2 ENST00000254528 human ensembl 70_37 +1 known missense c.1960 p.D654N 0.028 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000176584 0 genome.wustl.edu 37 10 124558532 124558532 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 124558532 124558532 C T SNP ENSG00000176584 ENST00000419885 human ensembl 70_37 +1 known rna NULL NULL 0.072 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000212670 0 genome.wustl.edu 37 1 54570331 54570331 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 54570331 54570331 C T SNP ENSG00000212670 ENST00000391366 human ensembl 70_37 +1 known missense c.191 p.S64L 0.147 NULL NULL - no_errors AL161915.1 Clone_based_ensembl_gene ENSG00000223779 0 genome.wustl.edu 37 1 149265366 149265367 + RNA INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 149265366 149265367 - T INS ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 0.175:0.073 - - - no_errors RP11-403I13.4 Clone_based_vega_gene FAM160A2 84067 genome.wustl.edu 37 11 6239972 6239972 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 11 6239972 6239972 G A SNP FAM160A2 ENST00000265978 human ensembl 70_37 -1 known silent c.1293 p.H431 0.936 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC FBXO40 51725 genome.wustl.edu 37 3 121340434 121340434 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 121340434 121340434 A G SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known missense c.158 p.E53G 1.000 superfamily_TRAF-like superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO40 HGNC GDF6 392255 genome.wustl.edu 37 8 97172815 97172815 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 97172815 97172815 C T SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known missense c.106 p.E36K 0.855 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC GJA1 2697 genome.wustl.edu 37 6 121768443 121768443 + Silent SNP G G T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 121768443 121768443 G T SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known silent c.450 p.G150 0.590 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC GOLM1 51280 genome.wustl.edu 37 9 88692498 88692498 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 88692498 88692498 G A SNP GOLM1 ENST00000388711 human ensembl 70_37 -1 known silent c.138 p.I46 0.049 NULL NULL - no_errors GOLM1 HGNC GPI 2821 genome.wustl.edu 37 19 34859566 34859566 + Missense_Mutation SNP G G C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 34859566 34859566 G C SNP GPI ENST00000415930 human ensembl 70_37 +1 known missense c.478 p.E160Q 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC GPI 2821 genome.wustl.edu 37 19 34859589 34859589 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 34859589 34859589 G A SNP GPI ENST00000415930 human ensembl 70_37 +1 known silent c.501 p.K167 1.000 pfam_G6P_Isomerase,prints_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC GPR112 139378 genome.wustl.edu 37 X 135426995 135426995 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 X 135426995 135426995 C G SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.1130 p.S377C 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9916231 9916231 + Silent SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 9916231 9916231 A G SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known silent c.2058 p.P686 0.708 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRIN3B 116444 genome.wustl.edu 37 19 1004896 1004897 + Frame_Shift_Ins INS - - CGTT TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 1004896 1004897 - CGTT INS GRIN3B ENST00000234389 human ensembl 70_37 +1 known frame_shift_ins c.1396_1397 p.G466fs 0.993:0.989 smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC GVINP1 387751 genome.wustl.edu 37 11 6738168 6738168 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 11 6738168 6738168 C A SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors GVINP1 HGNC HDAC2 3066 genome.wustl.edu 37 6 114274456 114274456 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 114274456 114274456 G A SNP HDAC2 ENST00000398283 human ensembl 70_37 -1 known silent c.906 p.G302 0.967 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC HIST1H3I 8354 genome.wustl.edu 37 6 27839778 27839778 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 27839778 27839778 C G SNP HIST1H3I ENST00000328488 human ensembl 70_37 -1 known missense c.316 p.E106Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC HLA-C 3107 genome.wustl.edu 37 6 31239049 31239050 + Frame_Shift_Ins INS - - C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 31239049 31239050 - C INS HLA-C ENST00000539307 human ensembl 70_37 -1 known frame_shift_ins c.531_530 p.A178fs 0.006:0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC HLA-C 3107 genome.wustl.edu 37 6 31239050 31239051 + Frame_Shift_Ins INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 31239050 31239051 - T INS HLA-C ENST00000539307 human ensembl 70_37 -1 known frame_shift_ins c.530_529 p.S177fs 0.000:0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC HSD11B2 3291 genome.wustl.edu 37 16 67469611 67469611 + Missense_Mutation SNP T T G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 67469611 67469611 T G SNP HSD11B2 ENST00000326152 human ensembl 70_37 +1 known missense c.346 p.L116V 0.003 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC HTT 3064 genome.wustl.edu 37 4 3190799 3190799 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 4 3190799 3190799 C T SNP HTT ENST00000355072 human ensembl 70_37 +1 known silent c.5347 p.L1783 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC IGSF10 285313 genome.wustl.edu 37 3 151165584 151165584 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 151165584 151165584 G A SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.2185 p.R729C 0.008 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IL1RAPL2 26280 genome.wustl.edu 37 X 104999271 104999271 + Silent SNP G G T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 X 104999271 104999271 G T SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known silent c.1293 p.L431 0.997 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC IRX6 79190 genome.wustl.edu 37 16 55363210 55363210 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 55363210 55363210 G A SNP IRX6 ENST00000290552 human ensembl 70_37 +1 known silent c.1320 p.P440 0.002 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX6 HGNC KCNK9 51305 genome.wustl.edu 37 8 140630966 140630966 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 140630966 140630966 G A SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known silent c.660 p.Y220 1.000 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC KIF1A 547 genome.wustl.edu 37 2 241663449 241663449 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 241663449 241663449 G A SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4261 p.R1421C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KRTAP16-1 100505753 genome.wustl.edu 37 17 39465098 39465098 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 17 39465098 39465098 G A SNP KRTAP16-1 ENST00000391352 human ensembl 70_37 -1 known silent c.408 p.A136 0.226 NULL NULL - no_errors KRTAP16-1 HGNC KRTAP27-1 643812 genome.wustl.edu 37 21 31709770 31709770 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 21 31709770 31709770 C T SNP KRTAP27-1 ENST00000382835 human ensembl 70_37 -1 known missense c.217 p.D73N 0.000 pfam_PMG pfam_PMG - no_errors KRTAP27-1 HGNC LIFR 3977 genome.wustl.edu 37 5 38481717 38481718 + Frame_Shift_Ins INS - - A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 5 38481717 38481718 - A INS LIFR ENST00000263409 human ensembl 70_37 -1 known frame_shift_ins c.3274_3273 p.Q1091fs 1.000:1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC LOC730811 730811 genome.wustl.edu 37 2 2328466 2328466 + RNA SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 2328466 2328466 G A SNP LOC730811 ENST00000422175 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC009232.2 Clone_based_vega_gene MCM3AP-AS1 114044 genome.wustl.edu 37 21 47671275 47671276 + RNA INS - - AAT TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 21 47671275 47671276 - AAT INS MCM3AP-AS1 ENST00000414659 human ensembl 70_37 +1 known rna NULL NULL 0.131:0.098 - - - no_errors MCM3AP-AS1 HGNC MIR600HG 81571 genome.wustl.edu 37 9 125873139 125873139 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 125873139 125873139 C T SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC MKRN3 7681 genome.wustl.edu 37 15 23811385 23811385 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 15 23811385 23811385 G A SNP MKRN3 ENST00000314520 human ensembl 70_37 +1 known silent c.456 p.P152 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC MLLT3 4300 genome.wustl.edu 37 9 20346393 20346393 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 20346393 20346393 C A SNP MLLT3 ENST00000469261 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors MLLT3 HGNC MPHOSPH10 10199 genome.wustl.edu 37 2 71357945 71357945 + RNA SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 71357945 71357945 G A SNP MPHOSPH10 ENST00000468427 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors MPHOSPH10 HGNC MTERFD2 130916 genome.wustl.edu 37 2 242026909 242026909 + RNA SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 242026909 242026909 C T SNP MTERFD2 ENST00000455202 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors MTERFD2 HGNC MUC4 4585 genome.wustl.edu 37 3 195481096 195481096 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 3 195481096 195481096 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.15316 p.R5106W 0.597 smart_EG-like_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC NDN 4692 genome.wustl.edu 37 15 23931620 23931620 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 15 23931620 23931620 G A SNP NDN ENST00000331837 human ensembl 70_37 -1 known missense c.745 p.R249C 0.995 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC OGFRL1 79627 genome.wustl.edu 37 6 72011165 72011165 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 72011165 72011165 C T SNP OGFRL1 ENST00000370435 human ensembl 70_37 +1 known missense c.769 p.P257S 1.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC OR2T5 401993 genome.wustl.edu 37 1 248651905 248651905 + Missense_Mutation SNP A A T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 248651905 248651905 A T SNP OR2T5 ENST00000366473 human ensembl 70_37 +1 known missense c.16 p.R6W 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T5 HGNC PMP2 5375 genome.wustl.edu 37 8 82357056 82357056 + Missense_Mutation SNP G G C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 82357056 82357056 G C SNP PMP2 ENST00000256103 human ensembl 70_37 -1 known missense c.242 p.T81S 0.186 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors PMP2 HGNC PRSS55 203074 genome.wustl.edu 37 8 10395994 10395995 + Frame_Shift_Ins INS - - G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 10395994 10395995 - G INS PRSS55 ENST00000328655 human ensembl 70_37 +1 known frame_shift_ins c.750_751 p.P252fs 0.991:1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS55 HGNC PTPRH 5794 genome.wustl.edu 37 19 55702891 55702891 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 55702891 55702891 C G SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known missense c.2362 p.E788Q 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC PTPRH 5794 genome.wustl.edu 37 19 55702910 55702910 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 19 55702910 55702910 C T SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known silent c.2343 p.K781 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC RAB35 11021 genome.wustl.edu 37 12 120534366 120534366 + Missense_Mutation SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 12 120534366 120534366 C A SNP RAB35 ENST00000432953 human ensembl 70_37 -1 known missense c.684 p.L228F 0.019 NULL NULL - no_errors RAB35 HGNC RB1 5925 genome.wustl.edu 37 13 48953743 48953743 + Missense_Mutation SNP G G T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 13 48953743 48953743 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.1346 p.G449V 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RB1 5925 genome.wustl.edu 37 13 48955492 48955492 + Silent SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 13 48955492 48955492 C T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known silent c.1608 p.I536 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RNF125 54941 genome.wustl.edu 37 18 29617087 29617087 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 18 29617087 29617087 G A SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.173 p.R58H 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC RPS18 6222 genome.wustl.edu 37 6 33239880 33239880 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 33239880 33239880 C A SNP RPS18 ENST00000476222 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS18 HGNC RUNDC3A 10900 genome.wustl.edu 37 17 42395476 42395476 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 17 42395476 42395476 C T SNP RUNDC3A ENST00000426726 human ensembl 70_37 +1 known missense c.1211 p.T404M 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC SCN2A 6326 genome.wustl.edu 37 2 166167041 166167041 + Silent SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 2 166167041 166167041 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.906 p.G302 0.640 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCRN1 9805 genome.wustl.edu 37 7 29994813 29994813 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 29994813 29994813 A G SNP SCRN1 ENST00000434476 human ensembl 70_37 -1 known missense c.383 p.L128P 1.000 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN1 HGNC SETX 23064 genome.wustl.edu 37 9 135150445 135150445 + RNA SNP C C A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 135150445 135150445 C A SNP SETX ENST00000464133 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SETX HGNC SMG7 9887 genome.wustl.edu 37 1 183515398 183515399 + Frame_Shift_Ins INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 183515398 183515399 - T INS SMG7 ENST00000507469 human ensembl 70_37 +1 known frame_shift_ins c.2530_2531 p.D845fs 0.013:0.939 NULL pfam_EST1 - no_errors SMG7 HGNC SSTR5 6755 genome.wustl.edu 37 16 1129641 1129641 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 16 1129641 1129641 C T SNP SSTR5 ENST00000293897 human ensembl 70_37 +1 known missense c.773 p.A258V 0.990 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_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC SVIL 6840 genome.wustl.edu 37 10 29819538 29819538 + Missense_Mutation SNP T T C TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 29819538 29819538 T C SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.2104 p.R702G 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC TCL6 27004 genome.wustl.edu 37 14 96138553 96138554 + RNA INS - - T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 14 96138553 96138554 - T INS TCL6 ENST00000459662 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.003 - - - no_errors TCL6 HGNC TDRD6 221400 genome.wustl.edu 37 6 46660090 46660090 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 46660090 46660090 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.4225 p.A1409T 0.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TET1 80312 genome.wustl.edu 37 10 70404465 70404465 + Missense_Mutation SNP A A G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 10 70404465 70404465 A G SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.1979 p.D660G 0.941 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TIE1 7075 genome.wustl.edu 37 1 43779725 43779726 + RNA DEL TG TG - TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 1 43779725 43779726 TG - DEL TIE1 ENST00000471187 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors TIE1 HGNC TMCO5A 145942 genome.wustl.edu 37 15 38229077 38229077 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 15 38229077 38229077 G A SNP TMCO5A ENST00000319669 human ensembl 70_37 +1 known missense c.170 p.G57D 0.015 NULL NULL - no_errors TMCO5A HGNC TRIM73 375593 genome.wustl.edu 37 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 7 75028599 75028599 G A SNP TRIM73 ENST00000323819 human ensembl 70_37 +1 known missense c.382 p.V128I 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM73 HGNC UAP1L1 91373 genome.wustl.edu 37 9 139972841 139972841 + Missense_Mutation SNP C C T TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 9 139972841 139972841 C T SNP UAP1L1 ENST00000360271 human ensembl 70_37 +1 known missense c.13 p.P5S 0.000 NULL pfam_UDPGP_trans - no_errors UAP1L1 HGNC VPS52 6293 genome.wustl.edu 37 6 33237790 33237790 + Missense_Mutation SNP C C G TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 6 33237790 33237790 C G SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known missense c.214 p.E72Q 1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ZNF707 286075 genome.wustl.edu 37 8 144773223 144773223 + RNA SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2 dc1b5352-cd76-41bb-87da-e8c01a6b87a5 8 144773223 144773223 G A SNP ZNF707 ENST00000530341 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors ZNF707 HGNC