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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val TENM1 0 genome.wustl.edu 37 X 124097514 124097514 + Missense_Mutation SNP C C G TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b X 124097514 124097514 C G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.89 p.S30T 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 56 0 0.00 36 30 45.45 100 0 0.00 72 43 37.39 MICU2 0 genome.wustl.edu 37 13 22067469 22067469 + Silent SNP T T C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 13 22067469 22067469 T C SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known silent c.1224 p.Q408 0.998 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 tier1 - - 116 1 0.85 68 64 48.48 146 0 0.00 119 74 37.56 BIRC8 0 genome.wustl.edu 37 19 53793609 53793609 + Missense_Mutation SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 19 53793609 53793609 G A SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known missense c.19 p.R7W 0.904 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 tier1 - - 39 0 0.00 24 11 31.43 125 0 0.00 50 54 51.92 NCK2 0 genome.wustl.edu 37 2 106471560 106471560 + Missense_Mutation SNP C C G TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 2 106471560 106471560 C G SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.41 p.T14S 0.997 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 tier1 - - 42 0 0.00 19 26 57.78 81 0 0.00 51 40 43.96 LOC100652824 0 genome.wustl.edu 37 2 202970560 202970560 + Silent SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 2 202970560 202970560 G A SNP LOC100652824 ENST00000541917 human ensembl 74_37 +1 known silent c.1401 p.A467 0.000 NULL NULL - no_errors AC079354.1 Clone_based_vega_gene ENSG00000182329 tier1 - - 48 0 0.00 26 31 54.39 81 0 0.00 36 31 45.59 C14orf39 0 genome.wustl.edu 37 14 60945096 60945096 + Missense_Mutation SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 14 60945096 60945096 G A SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.245 p.T82I 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 tier1 - - 67 0 0.00 48 27 36.00 73 0 0.00 47 39 45.35 CLCA2 0 genome.wustl.edu 37 1 86913457 86913457 + Silent SNP A A G TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 1 86913457 86913457 A G SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known silent c.1980 p.G660 0.998 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 tier1 - - 67 0 0.00 38 18 32.14 46 0 0.00 39 26 39.39 KIF4A 0 genome.wustl.edu 37 X 69550144 69550144 + Missense_Mutation SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b X 69550144 69550144 G A SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.1033 p.D345N 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 tier1 - - 51 0 0.00 30 27 47.37 33 0 0.00 24 12 33.33 ENSG00000228302 0 genome.wustl.edu 37 10 12288380 12288380 + R SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 10 12288380 12288380 G A SNP ENSG00000228302 ENST00000421657 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-186N15.3 Clone_based_vega_gene ENSG00000228302 tier1 - - 9 0 0.00 4 7 63.64 83 0 0.00 64 42 39.62 SETD5 0 genome.wustl.edu 37 3 9476152 9476152 + Silent SNP C C T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 3 9476152 9476152 C T SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known silent c.312 p.L104 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 tier1 - - 60 0 0.00 44 55 55.56 134 0 0.00 70 74 51.39 MIR1539 0 genome.wustl.edu 37 18 47013943 47013943 + R SNP A A C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 18 47013943 47013943 A C SNP MIR1539 ENST00000581232 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR1539 HGNC ENSG00000265496 tier1 - - 26 0 0.00 14 7 33.33 101 0 0.00 42 23 35.38 RGAG1 0 genome.wustl.edu 37 X 109695944 109695944 + Missense_Mutation SNP A A T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b X 109695944 109695944 A T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.2099 p.Q700L 0.003 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 tier1 - - 54 0 0.00 29 24 45.28 96 0 0.00 62 40 39.22 TCEB3B 0 genome.wustl.edu 37 18 44559800 44559800 + Silent SNP C C T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 18 44559800 44559800 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1836 p.P612 0.993 pfam_R_pol_II_trans_fac_SIII_A pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 66 0 0.00 40 24 37.50 75 0 0.00 57 41 41.84 FAM26D 0 genome.wustl.edu 37 6 116875489 116875489 + Missense_Mutation SNP C C A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 6 116875489 116875489 C A SNP FAM26D ENST00000368596 human ensembl 74_37 +1 known missense c.533 p.A178D 0.771 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 tier1 - - 30 0 0.00 14 16 53.33 59 0 0.00 39 36 48.00 TENM1 0 genome.wustl.edu 37 X 124097497 124097497 + Missense_Mutation SNP G G C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b X 124097497 124097497 G C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.106 p.P36A 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 53 0 0.00 35 30 45.45 101 0 0.00 73 43 37.07 ZNF726 0 genome.wustl.edu 37 19 24102852 24102852 + Missense_Mutation SNP T T C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 19 24102852 24102852 T C SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.194 p.M65T 0.000 pfscan_Krueppel-associated_box 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 ZNF726 HGNC ENSG00000213967 tier1 - - 86 0 0.00 58 29 33.33 30 0 0.00 25 22 46.81 PODXL 0 genome.wustl.edu 37 7 131190689 131190689 + Silent SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 7 131190689 131190689 G A SNP PODXL ENST00000541194 human ensembl 74_37 -1 known silent c.1423 p.L475 1.000 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 tier1 - - 74 0 0.00 51 6 10.53 26 0 0.00 18 3 13.64 WDR87 0 genome.wustl.edu 37 19 38378740 38378740 + Silent SNP T T C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 19 38378740 38378740 T C SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.5571 p.R1857 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 116 0 0.00 13 45 77.59 149 1 0.67 12 67 84.81 RAD54L2 0 genome.wustl.edu 37 3 51669630 51669630 + Missense_Mutation SNP A A C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 3 51669630 51669630 A C SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.1164 p.K388N 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 36 0 0.00 28 22 44.00 91 1 1.09 27 22 44.90 LRP2 0 genome.wustl.edu 37 2 169999283 169999283 + Missense_Mutation SNP T T C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 2 169999283 169999283 T C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.13009 p.I4337V 0.636 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 66 0 0.00 45 25 35.71 74 0 0.00 43 41 48.81 KIF9 0 genome.wustl.edu 37 3 47287688 47287688 + Missense_Mutation SNP T T A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 3 47287688 47287688 T A SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1288 p.S430C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 tier1 - - 74 0 0.00 31 36 53.73 96 0 0.00 50 46 47.92 APC1 0 genome.wustl.edu 37 2 112536331 112536331 + Missense_Mutation SNP T T A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 2 112536331 112536331 T A SNP APC1 ENST00000341068 human ensembl 74_37 -1 known missense c.5306 p.D1769V 1.000 NULL NULL - no_errors APC1 HGNC ENSG00000153107 tier1 - - 159 0 0.00 78 60 43.48 34 0 0.00 29 22 43.14 SCML2 0 genome.wustl.edu 37 X 18257646 18257646 + R SNP T T A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b X 18257646 18257646 T A SNP SCML2 ENST00000491988 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SCML2 HGNC ENSG00000102098 tier1 - - 106 0 0.00 66 52 44.07 86 0 0.00 65 62 48.82 COL6A6 0 genome.wustl.edu 37 3 130293060 130293060 + Missense_Mutation SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 3 130293060 130293060 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3238 p.G1080S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 16 0 0.00 8 8 50.00 90 0 0.00 70 51 42.15 DRD1 0 genome.wustl.edu 37 5 174869993 174869993 + Missense_Mutation SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 5 174869993 174869993 G A SNP DRD1 ENST00000393752 human ensembl 74_37 -1 known missense c.110 p.T37M 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 tier1 - - 36 0 0.00 0 19 100.00 53 0 0.00 5 41 89.13 EPN2 0 genome.wustl.edu 37 17 19189049 19189049 + Missense_Mutation SNP C C T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 17 19189049 19189049 C T SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known missense c.712 p.R238C 0.999 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 tier1 - - 42 0 0.00 62 20 24.39 5 0 0.00 3 3 50.00 MIR550A3 0 genome.wustl.edu 37 7 29720400 29720400 + R SNP C C G TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 7 29720400 29720400 C G SNP MIR550A3 ENST00000390735 human ensembl 74_37 -1 known rna NULL NULL 0.225 - - - no_errors MIR550A3 HGNC ENSG00000212024 tier1 - - 66 0 0.00 25 48 65.75 7 0 0.00 2 2 50.00 TP53 0 genome.wustl.edu 37 17 7577580 7577580 + Missense_Mutation SNP T T C TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 17 7577580 7577580 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.701 p.Y234C 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 70 0 0.00 3 54 94.74 59 0 0.00 3 27 90.00 PSMB11 0 genome.wustl.edu 37 14 23512330 23512330 + Missense_Mutation SNP C C T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 14 23512330 23512330 C T SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.896 p.T299M 0.001 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 tier1 - - 45 0 0.00 40 8 16.67 69 0 0.00 59 4 6.35 ENSG00000216191 0 genome.wustl.edu 37 2 50923314 50923321 + R DEL GTGTGTGT GTGTGTGT - TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 GTGTGTGT GTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 2 50923314 50923321 GTGTGTGT - DEL ENSG00000216191 ENST00000401372 human ensembl 74_37 -1 novel rna NULL NULL 0.006:0.004:0.003:0.002:0.002:0.000:0.000:0.000 - - - no_errors AC009234.2 Clone_based_ensembl_gene ENSG00000216191 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MT-CO1 0 genome.wustl.edu 37 MT 7218 7218 + Missense_Mutation SNP C C A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b MT 7218 7218 C A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1315 p.R439S NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 36 0 0.00 9 2 18.18 3 0 0.00 0 0 0.00 MT-TS2 0 genome.wustl.edu 37 MT 12213 12213 + R SNP G G T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b MT 12213 12213 G T SNP MT-TS2 ENST00000387449 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TS2 HGNC ENSG00000210184 tier1 - - 19 0 0.00 6 2 25.00 1 0 0.00 0 0 0.00 LATS2 0 genome.wustl.edu 37 13 21563188 21563188 + Missense_Mutation SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 13 21563188 21563188 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.731 p.A244V 0.008 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 - - 18 0 0.00 31 15 31.91 2 0 0.00 2 4 66.67 FANCG 0 genome.wustl.edu 37 9 35078228 35078228 + Silent SNP G G A TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 9 35078228 35078228 G A SNP FANCG ENST00000378643 human ensembl 74_37 -1 known silent c.420 p.H140 0.952 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 tier1 - - 28 0 0.00 17 5 22.73 29 0 0.00 26 2 7.14 SGIP1 0 genome.wustl.edu 37 1 67142719 67142719 + Missense_Mutation SNP G G T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 1 67142719 67142719 G T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.691 p.G231C 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 28 0 0.00 42 4 8.70 100 0 0.00 103 2 1.90 FBXO30 0 genome.wustl.edu 37 6 146126375 146126375 + Missense_Mutation SNP G G T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bfcee5bd-7c24-4f45-a3a6-2aefd4849b0e cd00cebf-c6ff-4950-9836-85300c25b19b 6 146126375 146126375 G T SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known missense c.1167 p.F389L 0.999 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 tier1 - - 67 0 0.00 44 4 8.33 83 0 0.00 117 2 1.68