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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ANKK1 0 genome.wustl.edu 37 11 113269854 113269855 + Frame_Shift_Ins INS - - CA TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 11 113269854 113269855 - CA INS ANKK1 ENST00000303941 human ensembl 69_37n +1 known frame_shift_ins c.1163_1164 p.D389fs 0.130:0.247 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ANKK1 HGNC ENSG00000170209 61 0 0.00 41 163 79.90 - - - C17orf70 0 genome.wustl.edu 37 17 79514514 79514516 + In_Frame_Del DEL TGT TGT - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 17 79514514 79514516 TGT - DEL C17orf70 ENST00000327787 human ensembl 69_37n -1 known in_frame_del c.1594_1592 p.N531in_frame_del 0.000:0.228:0.951 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 18 0 0.00 11 27 69.23 - - - CACNA1G 0 genome.wustl.edu 37 17 48669336 48669336 + Missense_Mutation SNP T T G TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 17 48669336 48669336 T G SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known missense c.2793 p.N931K 0.993 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 272 0 0.00 101 12 10.62 - - - CCDC57 0 genome.wustl.edu 37 17 80159705 80159705 + Frame_Shift_Del DEL G G - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 17 80159705 80159705 G - DEL CCDC57 ENST00000389641 human ensembl 69_37n -1 known frame_shift_del c.116 p.T39fs 0.002 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 31 0 0.00 25 12 32.43 - - - CD22 0 genome.wustl.edu 37 19 35835800 35835800 + Missense_Mutation SNP G G T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 19 35835800 35835800 G T SNP CD22 ENST00000085219 human ensembl 69_37n +1 known missense c.2104 p.A702S 0.524 NULL pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 115 0 0.00 390 79 16.77 - - - CLK2 0 genome.wustl.edu 37 1 155233103 155233104 + Frame_Shift_Ins INS - - C TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 1 155233103 155233104 - C INS CLK2 ENST00000368361 human ensembl 69_37n -1 known frame_shift_ins c.1406_1405 p.T469fs 1.000:1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 131 0 0.00 124 92 42.59 - - - CLK2 0 genome.wustl.edu 37 1 155233108 155233109 + Frame_Shift_Ins INS - - T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 1 155233108 155233109 - T INS CLK2 ENST00000368361 human ensembl 69_37n -1 known frame_shift_ins c.1401_1400 p.L468fs 0.935:1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK2 HGNC ENSG00000176444 132 0 0.00 126 92 42.20 - - - CLSTN2 0 genome.wustl.edu 37 3 140122491 140122491 + Missense_Mutation SNP A A T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 3 140122491 140122491 A T SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.253 p.I85F 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 134 0 0.00 216 51 19.10 - - - CREB3L1 0 genome.wustl.edu 37 11 46341932 46341932 + Missense_Mutation SNP C C T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 11 46341932 46341932 C T SNP CREB3L1 ENST00000288400 human ensembl 69_37n +1 known missense c.1376 p.A459V 0.003 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 124 0 0.00 158 74 31.90 - - - DDR1 0 genome.wustl.edu 37 6 30864625 30864625 + Missense_Mutation SNP G G C TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 6 30864625 30864625 G C SNP DDR1 ENST00000376575 human ensembl 69_37n +1 known missense c.1852 p.E618Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 63 0 0.00 40 9 18.37 - - - EFCAB5 0 genome.wustl.edu 37 17 28419935 28419935 + Silent SNP T T G TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 17 28419935 28419935 T G SNP EFCAB5 ENST00000394835 human ensembl 69_37n +1 known silent c.4302 p.L1434 0.163 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 148 0 0.00 237 66 21.71 - - - GALNT11 0 genome.wustl.edu 37 7 151800318 151800318 + Missense_Mutation SNP C C T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 7 151800318 151800318 C T SNP GALNT11 ENST00000320311 human ensembl 69_37n +1 known missense c.541 p.H181Y 0.285 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 138 0 0.00 162 61 27.23 - - - HNRNPU 0 genome.wustl.edu 37 1 245027315 245027315 + Silent SNP G G A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 1 245027315 245027315 G A SNP HNRNPU ENST00000283179 human ensembl 69_37n -1 known silent c.295 p.L99 0.994 NULL pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 14 0 0.00 19 6 24.00 - - - ISLR2 0 genome.wustl.edu 37 15 74425335 74425335 + Frame_Shift_Del DEL G G - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 15 74425335 74425335 G - DEL ISLR2 ENST00000361742 human ensembl 69_37n +1 known frame_shift_del c.240 p.W81fs 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 62 0 0.00 52 23 30.26 - - - KCNE4 0 genome.wustl.edu 37 2 223917604 223917604 + Frame_Shift_Del DEL G G - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 2 223917604 223917604 G - DEL KCNE4 ENST00000281830 human ensembl 69_37n +1 known frame_shift_del c.56 p.S19fs 0.005 NULL pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 19 0 0.00 6 6 50.00 - - - KCNE4 0 genome.wustl.edu 37 2 223917614 223917615 + Frame_Shift_Del DEL GT GT - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 2 223917614 223917615 GT - DEL KCNE4 ENST00000281830 human ensembl 69_37n +1 known frame_shift_del c.66_67 p.E22fs 0.001:0.003 NULL pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 19 0 0.00 8 6 42.86 - - - LAMA5 0 genome.wustl.edu 37 20 60902386 60902387 + Frame_Shift_Ins INS - - G TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 20 60902386 60902387 - G INS LAMA5 ENST00000252999 human ensembl 69_37n -1 known frame_shift_ins c.5015_5014 p.E1672fs 0.007:0.008 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 11 0 0.00 6 3 33.33 - - - LAMA5 0 genome.wustl.edu 37 20 60902395 60902395 + Frame_Shift_Del DEL G G - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 20 60902395 60902395 G - DEL LAMA5 ENST00000252999 human ensembl 69_37n -1 known frame_shift_del c.5006 p.P1669fs 0.000 pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 9 0 0.00 2 3 60.00 - - - MEFV 0 genome.wustl.edu 37 16 3293331 3293331 + Missense_Mutation SNP C C A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 16 3293331 3293331 C A SNP MEFV ENST00000219596 human ensembl 69_37n -1 known missense c.2156 p.G719V 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 80 0 0.00 79 12 13.04 - - - MUM1L1 0 genome.wustl.edu 37 X 105449533 105449535 + In_Frame_Del DEL TCT TCT - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af X 105449533 105449535 TCT - DEL MUM1L1 ENST00000337685 human ensembl 69_37n +1 known in_frame_del c.108_110 p.L37in_frame_del 0.001:0.047:0.086 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 63 0 0.00 49 90 64.75 - - - NUP210 0 genome.wustl.edu 37 3 13364912 13364912 + Silent SNP C C T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 3 13364912 13364912 C T SNP NUP210 ENST00000254508 human ensembl 69_37n -1 known silent c.4665 p.Q1555 0.944 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 124 0 0.00 97 14 12.61 - - - PCDHB10 0 genome.wustl.edu 37 5 140574447 140574447 + Silent SNP G G A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 5 140574447 140574447 G A SNP PCDHB10 ENST00000239446 human ensembl 69_37n +1 known silent c.2322 p.S774 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 74 0 0.00 48 9 15.52 - - - PGF 0 genome.wustl.edu 37 14 75421872 75421873 + Frame_Shift_Ins INS - - G TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 14 75421872 75421873 - G INS PGF ENST00000405431 human ensembl 69_37n -1 known frame_shift_ins c.74_73 p.Q25fs 0.671:0.473 NULL pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors PGF HGNC ENSG00000119630 20 0 0.00 19 3 13.64 - - - POC1B 0 genome.wustl.edu 37 12 89818991 89818991 + Missense_Mutation SNP C C A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 12 89818991 89818991 C A SNP POC1B ENST00000313546 human ensembl 69_37n -1 known missense c.1279 p.A427S 0.529 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1B HGNC ENSG00000139323 286 0 0.00 258 48 15.58 - - - PPARD 0 genome.wustl.edu 37 6 35392419 35392419 + Missense_Mutation SNP G G A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 6 35392419 35392419 G A SNP PPARD ENST00000311565 human ensembl 69_37n +1 known missense c.941 p.R314H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_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_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 92 0 0.00 66 17 20.48 - - - PSTK 0 genome.wustl.edu 37 10 124745960 124745961 + Frame_Shift_Ins INS - - C TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 10 124745960 124745961 - C INS PSTK ENST00000405485 human ensembl 69_37n +1 known frame_shift_ins c.852_853 p.N284fs 0.000:0.000 NULL pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 34 0 0.00 38 10 20.83 - - - PTPN12 0 genome.wustl.edu 37 7 77210798 77210798 + Missense_Mutation SNP A A T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 7 77210798 77210798 A T SNP PTPN12 ENST00000248594 human ensembl 69_37n +1 known missense c.263 p.Y88F 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 88 0 0.00 86 17 16.35 - - - SKA3 0 genome.wustl.edu 37 13 21742333 21742333 + Silent SNP C C A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 13 21742333 21742333 C A SNP SKA3 ENST00000314759 human ensembl 69_37n -1 known silent c.537 p.V179 0.000 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 105 0 0.00 133 17 11.33 - - - SLC1A6 0 genome.wustl.edu 37 19 15061145 15061145 + Silent SNP G G A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 19 15061145 15061145 G A SNP SLC1A6 ENST00000221742 human ensembl 69_37n -1 known silent c.1557 p.I519 0.965 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 49 0 0.00 36 10 21.74 - - - SLC5A5 0 genome.wustl.edu 37 19 17986885 17986886 + Frame_Shift_Ins INS - - T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 19 17986885 17986886 - T INS SLC5A5 ENST00000222248 human ensembl 69_37n +1 known frame_shift_ins c.668_669 p.Q224fs 1.000:0.997 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 93 0 0.00 94 33 25.98 - - - TBC1D10B 0 genome.wustl.edu 37 16 30380863 30380863 + Silent SNP T T G TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 16 30380863 30380863 T G SNP TBC1D10B ENST00000409939 human ensembl 69_37n -1 known silent c.642 p.S214 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 33 0 0.00 29 12 28.57 - - - TEX264 0 genome.wustl.edu 37 3 51737809 51737809 + Missense_Mutation SNP C C T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 3 51737809 51737809 C T SNP TEX264 ENST00000341333 human ensembl 69_37n +1 known missense c.719 p.A240V 0.921 NULL superfamily_Reg_factor_effector_bac - no_errors TEX264 HGNC ENSG00000164081 41 0 0.00 33 20 37.74 - - - TP53 0 genome.wustl.edu 37 17 7576863 7576863 + Frame_Shift_Del DEL A A - TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 17 7576863 7576863 A - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.983 p.F328fs 1.000 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 329 0 0.00 310 41 11.58 - - - TPRG1 0 genome.wustl.edu 37 3 188925280 188925280 + Missense_Mutation SNP C C T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 3 188925280 188925280 C T SNP TPRG1 ENST00000345063 human ensembl 69_37n +1 known missense c.107 p.P36L 0.001 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 250 0 0.00 270 61 18.43 - - - TULP4 0 genome.wustl.edu 37 6 158924160 158924160 + Silent SNP G G C TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 6 158924160 158924160 G C SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known silent c.3465 p.L1155 0.965 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 58 0 0.00 38 6 13.64 - - - TXNL1 0 genome.wustl.edu 37 18 54291576 54291576 + Missense_Mutation SNP C C T TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 18 54291576 54291576 C T SNP TXNL1 ENST00000586262 human ensembl 69_37n -1 novel missense c.299 p.S100N 0.998 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TXNL1 HGNC ENSG00000091164 154 0 0.00 199 30 13.04 - - - VCPIP1 0 genome.wustl.edu 37 8 67579088 67579089 + Frame_Shift_Ins INS - - C TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 8 67579088 67579089 - C INS VCPIP1 ENST00000310421 human ensembl 69_37n -1 known frame_shift_ins c.106_105 p.L35fs 1.000:0.991 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 16 0 0.00 23 3 11.54 - - - ZNF649 0 genome.wustl.edu 37 19 52400227 52400227 + Missense_Mutation SNP G G A TCGA-A8-A07U-01A-11W-A050-09 TCGA-A8-A07U-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e6409415-8453-489d-a731-49257cade2a3 bd1d1390-403b-4e65-9ecc-430b52d2f8af 19 52400227 52400227 G A SNP ZNF649 ENST00000354957 human ensembl 69_37n -1 known missense c.20 p.S7L 0.002 superfamily_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 ZNF649 HGNC ENSG00000198093 275 0 0.00 291 66 18.44 - - -