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 HIST2H2BA 0 genome.wustl.edu 37 1 120906195 120906195 + RNA SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 120906195 120906195 C A SNP HIST2H2BA ENST00000430394 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HIST2H2BA HGNC ENSG00000223345 259 0 0 163 40 19.7044 DHRS3 0 genome.wustl.edu 37 1 12638806 12638806 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 12638806 12638806 C T SNP DHRS3 ENST00000376223 human ensembl 74_37 -1 known missense c.638 p.S213N 0.971 smart_PKS/FAS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 53 0 0 51 18 26.087 NBPF10 0 genome.wustl.edu 37 1 145301732 145301732 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 145301732 145301732 G A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.1001 p.C334Y 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 725 0 0 635 53 7.70349 KCNT2 0 genome.wustl.edu 37 1 196398783 196398783 + Missense_Mutation SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 196398783 196398783 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.743 p.V248A 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 87 0 0 84 26 23.6364 CFHR4 0 genome.wustl.edu 37 1 196887428 196887428 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 196887428 196887428 G A SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known silent c.1626 p.G542 0.248 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 171 0 0 132 98 42.6087 PTPRC 0 genome.wustl.edu 37 1 198703498 198703498 + Missense_Mutation SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 198703498 198703498 T C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2221 p.W741R 1.000 pirsf_Leukocyte_common_ag,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_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 546 0 0 690 154 18.2464 EPHA8 0 genome.wustl.edu 37 1 22922618 22922618 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 22922618 22922618 G A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.1717 p.A573T 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 69 0 0 58 20 25.641 ACTRT2 0 genome.wustl.edu 37 1 2938675 2938675 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 2938675 2938675 C A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.425 p.A142E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 86 0 0 58 23 28.3951 BAI2 0 genome.wustl.edu 37 1 32207043 32207043 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 32207043 32207043 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known silent c.1725 p.G575 0.012 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 29 0 0 9 4 30.7692 CHD5 0 genome.wustl.edu 37 1 6189111 6189111 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 6189111 6189111 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3406 p.R1136C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 46 0 0 37 10 21.2766 CNNM2 0 genome.wustl.edu 37 10 104809484 104809484 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 10 104809484 104809484 G A SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1642 p.V548M 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 222 0 0 133 58 30.3665 ADD3 0 genome.wustl.edu 37 10 111860438 111860438 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 10 111860438 111860438 G A SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known silent c.27 p.V9 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 57 0 0 56 14 20 ARHGAP21 0 genome.wustl.edu 37 10 24874724 24874724 + Silent SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 10 24874724 24874724 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known silent c.4494 p.T1498 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 604 0 0 319 121 27.5 GALNT18 0 genome.wustl.edu 37 11 11400736 11400736 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 11 11400736 11400736 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 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 GALNT18 HGNC ENSG00000110328 116 0 0 54 23 29.8701 MUC15 0 genome.wustl.edu 37 11 26586967 26586967 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 11 26586967 26586967 C T SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.520 p.E174K 0.039 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 255 0 0 154 52 25.2427 KCNA4 0 genome.wustl.edu 37 11 30033281 30033281 + Silent SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 11 30033281 30033281 C T SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known silent c.945 p.L315 1.000 prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 209 1 0.47619 112 34 23.2877 OR51D1 0 genome.wustl.edu 37 11 4661733 4661733 + Missense_Mutation SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 11 4661733 4661733 T C SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.713 p.V238A 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 242 0 0 136 40 22.7273 GDPD4 0 genome.wustl.edu 37 11 76956374 76956374 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 11 76956374 76956374 G A SNP GDPD4 ENST00000376217 human ensembl 74_37 -1 known silent c.1038 p.V346 0.003 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 247 0 0 144 56 28 TMTC2 0 genome.wustl.edu 37 12 83526052 83526052 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 12 83526052 83526052 G A SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.2395 p.E799K 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 80 0 0 29 11 27.5 A2M 0 genome.wustl.edu 37 12 9222365 9222365 + Missense_Mutation SNP G G T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 12 9222365 9222365 G T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.4239 p.N1413K 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 270 1 0.369004 199 60 23.166 OR4N5 0 genome.wustl.edu 37 14 20612757 20612757 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 14 20612757 20612757 C T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.863 p.T288M 0.961 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 343 0 0 297 154 34.1463 RNASE4 0 genome.wustl.edu 37 14 21167713 21167713 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 14 21167713 21167713 G A SNP RNASE4 ENST00000304704 human ensembl 74_37 +1 known silent c.183 p.K61 0.998 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000258818 281 0 0 293 56 16.0458 HECTD1 0 genome.wustl.edu 37 14 31598579 31598579 + Missense_Mutation SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 14 31598579 31598579 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.3998 p.K1333R 1.000 pfam_Mib_Herc2 pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 170 1 0.584795 58 96 62.3377 FSCB 0 genome.wustl.edu 37 14 44975349 44975349 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 14 44975349 44975349 G A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.842 p.A281V 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 196 0 0 46 66 58.9286 SIPA1L1 0 genome.wustl.edu 37 14 72152300 72152300 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 14 72152300 72152300 C A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.3326 p.A1109D 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 79 0 0 39 45 53.5714 ATP10A 0 genome.wustl.edu 37 15 25963546 25963546 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 15 25963546 25963546 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1364 p.A455V 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 11 0 0 11 3 21.4286 ENSG00000187812 0 genome.wustl.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 15 76074470 76074470 A G SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 47 0 0 34 4 10.5263 PEAK1 0 genome.wustl.edu 37 15 77473569 77473569 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 15 77473569 77473569 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.700 p.E234K 0.998 NULL 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 PEAK1 HGNC ENSG00000173517 349 0 0 206 80 27.972 SSTR5 0 genome.wustl.edu 37 16 1129842 1129842 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 16 1129842 1129842 C T SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known missense c.974 p.S325F 0.080 NULL 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 ENSG00000162009 38 0 0 20 7 25.9259 MKL2 0 genome.wustl.edu 37 16 14345840 14345840 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 16 14345840 14345840 C T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.2492 p.P831L 0.012 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 231 0 0 160 48 23.0769 SMG1 0 genome.wustl.edu 37 16 18828719 18828719 + Missense_Mutation SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 16 18828719 18828719 T C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.9971 p.D3324G 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 26 0 0 12 8 40 CLEC18C 0 genome.wustl.edu 37 16 70211226 70211226 + Missense_Mutation SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 16 70211226 70211226 T C SNP CLEC18C ENST00000314151 human ensembl 74_37 +1 known missense c.299 p.L100P 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CLEC18C HGNC ENSG00000157335 22 0 0 12 3 20 SSH2 0 genome.wustl.edu 37 17 27958032 27958032 + Missense_Mutation SNP T T G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 17 27958032 27958032 T G SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.4099 p.S1367R 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 277 0 0 148 10 6.32911 KCNJ2 0 genome.wustl.edu 37 17 68171975 68171975 + Silent SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 17 68171975 68171975 C T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known silent c.795 p.S265 0.159 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 202 0 0 122 33 21.2903 CASKIN2 0 genome.wustl.edu 37 17 73499201 73499201 + Missense_Mutation SNP C C G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 17 73499201 73499201 C G SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.1954 p.E652Q 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 16 0 0 6 5 45.4545 TP53 0 genome.wustl.edu 37 17 7578556 7578556 + Splice_Site SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 17 7578556 7578556 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.376-2 e4-2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 65 0 0 20 20 50 CHD3 0 genome.wustl.edu 37 17 7797156 7797156 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 17 7797156 7797156 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.827 p.R276Q 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 320 0 0 262 79 23.1672 PIEZO2 0 genome.wustl.edu 37 18 10681657 10681657 + Splice_Site SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 18 10681657 10681657 C T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known splice_site c.4422+1 e30+1 1.000 - - - no_errors PIEZO2 HGNC ENSG00000154864 278 0 0 158 58 26.8519 MC5R 0 genome.wustl.edu 37 18 13825858 13825858 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 18 13825858 13825858 C A SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.94 p.P32T 0.004 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 167 0 0 93 39 29.5455 EPG5 0 genome.wustl.edu 37 18 43510778 43510778 + Missense_Mutation SNP T T A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 18 43510778 43510778 T A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.2276 p.N759I 0.990 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 99 0 0 32 46 58.9744 CD22 0 genome.wustl.edu 37 19 35836516 35836516 + Silent SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 19 35836516 35836516 C T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known silent c.2220 p.A740 0.029 NULL pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 118 0 0 50 18 26.4706 RYR1 0 genome.wustl.edu 37 19 38976765 38976765 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 19 38976765 38976765 C A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.5470 p.Q1824K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 180 0 0 96 36 27.2727 LILRA5 0 genome.wustl.edu 37 19 54818815 54818815 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 19 54818815 54818815 G A SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known silent c.783 p.Y261 0.005 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 149 0 0 93 19 16.9643 ZNF264 0 genome.wustl.edu 37 19 57724120 57724120 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 19 57724120 57724120 C T SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known missense c.1655 p.S552L 0.684 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 ZNF264 HGNC ENSG00000083844 158 0 0 106 37 25.8741 MAP2K7 0 genome.wustl.edu 37 19 7977035 7977035 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 19 7977035 7977035 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1207 p.L403F 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 - no_errors MAP2K7 HGNC ENSG00000076984 164 0 0 83 7 7.77778 POTEJ 0 genome.wustl.edu 37 2 131415102 131415102 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 131415102 131415102 G A SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel silent c.2769 p.A923 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 94 0 0 108 42 28 TPO 0 genome.wustl.edu 37 2 1437238 1437238 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 1437238 1437238 C A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.208 p.P70T 0.582 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 121 0 0 77 78 50.3226 KIAA1715 0 genome.wustl.edu 37 2 176844567 176844567 + Missense_Mutation SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 176844567 176844567 A G SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known missense c.287 p.F96S 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 29 0 0 72 4 5.26316 GPR55 0 genome.wustl.edu 37 2 231775023 231775023 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 231775023 231775023 C A SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.655 p.V219L 0.190 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 158 0 0 77 68 46.8966 AQP12A 0 genome.wustl.edu 37 2 241631398 241631398 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 241631398 241631398 G A SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.68 p.R23Q 0.774 pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 81 0 0 84 9 9.67742 BIRC6 0 genome.wustl.edu 37 2 32715111 32715111 + Nonsense_Mutation SNP C C G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 32715111 32715111 C G SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known nonsense c.8099 p.S2700* 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 294 0 0 245 83 25.3049 GPATCH11 0 genome.wustl.edu 37 2 37321291 37321291 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 37321291 37321291 G A SNP GPATCH11 ENST00000409774 human ensembl 74_37 +1 known missense c.673 p.E225K 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH11 HGNC ENSG00000152133 9 0 0 10 5 33.3333 SIX3 0 genome.wustl.edu 37 2 45170028 45170028 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 45170028 45170028 G A SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known missense c.785 p.R262H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 33 0 0 11 13 54.1667 SUCLG1 0 genome.wustl.edu 37 2 84670454 84670454 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 84670454 84670454 C T SNP SUCLG1 ENST00000393868 human ensembl 74_37 -1 known missense c.272 p.G91E 1.000 pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC ENSG00000163541 138 0 0 128 37 22.4242 ELMOD3 0 genome.wustl.edu 37 2 85598245 85598245 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 85598245 85598245 G A SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known missense c.397 p.A133T 0.623 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 168 0 0 101 99 49.5 CNGA3 0 genome.wustl.edu 37 2 99008435 99008435 + Splice_Site SNP T T A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 99008435 99008435 T A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known splice_site c.673+2 e6+2 1.000 - - - no_errors CNGA3 HGNC ENSG00000144191 78 0 0 44 24 35.2941 MKKS 0 genome.wustl.edu 37 20 10389282 10389282 + Silent SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 20 10389282 10389282 C T SNP MKKS ENST00000347364 human ensembl 74_37 -1 known silent c.1155 p.E385 0.987 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors MKKS HGNC ENSG00000125863 134 0 0 108 31 22.3022 ZSWIM3 0 genome.wustl.edu 37 20 44506535 44506535 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 20 44506535 44506535 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known silent c.1338 p.P446 0.003 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 83 0 0 77 19 19.7917 SYNJ1 0 genome.wustl.edu 37 21 34042633 34042633 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 21 34042633 34042633 C T SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.1893 p.M631I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 88 0 0 52 17 24.6377 TTC3 0 genome.wustl.edu 37 21 38494156 38494156 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 21 38494156 38494156 G A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.940 p.E314K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom 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 106 0 0 70 26 27.0833 RFPL2 0 genome.wustl.edu 37 22 32587233 32587233 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 22 32587233 32587233 G A SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known silent c.663 p.A221 0.933 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 192 0 0 134 27 16.7702 TNRC6B 0 genome.wustl.edu 37 22 40711358 40711358 + Missense_Mutation SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 22 40711358 40711358 A G SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.4750 p.K1584E 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 96 0 0 51 23 31.0811 ATXN10 0 genome.wustl.edu 37 22 46125373 46125373 + Missense_Mutation SNP C C G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 22 46125373 46125373 C G SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known missense c.797 p.P266R 0.016 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 233 0 0 151 40 20.9424 ALCAM 0 genome.wustl.edu 37 3 105266363 105266363 + Missense_Mutation SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 105266363 105266363 A G SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.1370 p.N457S 1.000 smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 253 0 0 197 57 22.4409 ARHGAP31 0 genome.wustl.edu 37 3 119118073 119118073 + Missense_Mutation SNP A A T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 119118073 119118073 A T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1034 p.K345I 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 120 0 0 78 29 27.1028 DZIP1L 0 genome.wustl.edu 37 3 137822729 137822729 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 137822729 137822729 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.85 p.R29C 0.969 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 196 0 0 102 49 32.4503 SDHAP1 0 genome.wustl.edu 37 3 195692347 195692347 + RNA SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 195692347 195692347 G A SNP SDHAP1 ENST00000354559 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 24 0 0 25 3 10.7143 CNTN4 0 genome.wustl.edu 37 3 3078938 3078938 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 3078938 3078938 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2018 p.R673H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 365 2 0.544959 206 94 31.3333 PTH1R 0 genome.wustl.edu 37 3 46937225 46937225 + Missense_Mutation SNP C C G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 46937225 46937225 C G SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.179 p.A60G 0.243 pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 142 0 0 93 19 16.9643 PTH1R 0 genome.wustl.edu 37 3 46937234 46937234 + Missense_Mutation SNP T T G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 46937234 46937234 T G SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.188 p.M63R 0.998 pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 148 0 0 90 17 15.8879 ITPR1 0 genome.wustl.edu 37 3 4744539 4744539 + Missense_Mutation SNP T T C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 3 4744539 4744539 T C SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.4517 p.L1506P 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 55 0 0 39 10 20.4082 ACSL1 0 genome.wustl.edu 37 4 185689562 185689562 + Missense_Mutation SNP C C G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 4 185689562 185689562 C G SNP ACSL1 ENST00000281455 human ensembl 74_37 -1 known missense c.1036 p.G346R 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 331 0 0 203 64 23.97 SLIT2 0 genome.wustl.edu 37 4 20530620 20530620 + Missense_Mutation SNP T T A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 4 20530620 20530620 T A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1511 p.L504Q 1.000 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 225 0 0 179 14 7.25389 YTHDC1 0 genome.wustl.edu 37 4 69179894 69179894 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 4 69179894 69179894 G A SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.2107 p.R703C 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 62 0 0 42 10 19.2308 ZNF595 0 genome.wustl.edu 37 4 87098 87098 + RNA SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 4 87098 87098 A G SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.159 - - - no_errors ZNF595 HGNC ENSG00000197701 97 0 0 71 20 21.978 PCDHGA6 0 genome.wustl.edu 37 5 140755889 140755889 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 5 140755889 140755889 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.2239 p.R747W 0.986 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 135 0 0 42 23 35.3846 ZNF300 0 genome.wustl.edu 37 5 150275535 150275535 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 5 150275535 150275535 G A SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known silent c.1314 p.S438 0.003 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 ZNF300 HGNC ENSG00000145908 137 0 0 78 40 33.8983 ADCY2 0 genome.wustl.edu 37 5 7521010 7521010 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 5 7521010 7521010 C A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.568 p.Q190K 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 162 0 0 180 22 10.8911 ACOT12 0 genome.wustl.edu 37 5 80641711 80641711 + Missense_Mutation SNP G G T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 5 80641711 80641711 G T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.766 p.Q256K 1.000 pfam_Thioestr_supf pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 139 0 0 40 30 42.8571 GRM1 0 genome.wustl.edu 37 6 146678789 146678789 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 146678789 146678789 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1561 p.R521W 0.994 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 117 0 0 79 31 28.1818 SYNE1 0 genome.wustl.edu 37 6 152652266 152652266 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 152652266 152652266 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.13554 p.R4518 0.020 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 373 1 0.26738 225 76 25.2492 SYNE1 0 genome.wustl.edu 37 6 152748759 152748759 + Silent SNP T T G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 152748759 152748759 T G SNP SYNE1 ENST00000367253 human ensembl 74_37 -1 novel silent c.5169 p.I1723 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SYNE1 HGNC ENSG00000131018 65 0 0 29 37 56.0606 ZSCAN31 0 genome.wustl.edu 37 6 28294157 28294157 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 28294157 28294157 G A SNP ZSCAN31 ENST00000344279 human ensembl 74_37 -1 known missense c.1007 p.S336L 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN31 HGNC ENSG00000235109 524 0 0 272 100 26.8817 OR11A1 0 genome.wustl.edu 37 6 29394891 29394891 + Missense_Mutation SNP G G T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 29394891 29394891 G T SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.528 p.D176E 0.028 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 77 0 0 39 20 33.8983 HLA-F 0 genome.wustl.edu 37 6 29692871 29692871 + Missense_Mutation SNP G G T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 29692871 29692871 G T SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.674 p.W225L 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 97 0 0 44 24 35.2941 HLA-A 0 genome.wustl.edu 37 6 29911302 29911302 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 29911302 29911302 G A SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.601 p.E201K 0.975 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 44 0 0 26 5 16.129 PKHD1 0 genome.wustl.edu 37 6 51907736 51907736 + Silent SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 6 51907736 51907736 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.3018 p.I1006 0.027 superfamily_Ig_E-set pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 201 0 0 126 96 43.2432 RELN 0 genome.wustl.edu 37 7 103141292 103141292 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 103141292 103141292 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8567 p.C2856F 1.000 pfam_EGF_extracell,superfamily_Sialidases,smart_EG-like_dom 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 271 0 0 251 67 21.0692 MGAM 0 genome.wustl.edu 37 7 141631645 141631645 + RNA SNP T T A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 141631645 141631645 T A SNP MGAM ENST00000497554 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MGAM HGNC ENSG00000257335 121 0 0 109 25 18.6567 MACC1 0 genome.wustl.edu 37 7 20198397 20198397 + Silent SNP A A T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 20198397 20198397 A T SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known silent c.1587 p.S529 0.028 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 324 0 0 272 73 21.1594 IGFBP1 0 genome.wustl.edu 37 7 45931540 45931540 + Nonsense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 45931540 45931540 C T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known nonsense c.529 p.R177* 0.990 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 96 0 0 76 11 12.6437 RHBDD2 0 genome.wustl.edu 37 7 75517437 75517437 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 75517437 75517437 G A SNP RHBDD2 ENST00000006777 human ensembl 74_37 +1 known missense c.865 p.G289R 0.327 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 239 1 0.416667 195 56 22.3108 PCLO 0 genome.wustl.edu 37 7 82584541 82584541 + Missense_Mutation SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 82584541 82584541 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5728 p.A1910S 0.006 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 119 0 0 74 17 18.6813 PCLO 0 genome.wustl.edu 37 7 82784814 82784814 + Silent SNP A A C TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 82784814 82784814 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.1143 p.P381 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 123 0 0 104 26 20 LMTK2 0 genome.wustl.edu 37 7 97800978 97800978 + Silent SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 7 97800978 97800978 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.783 p.F261 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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 LMTK2 HGNC ENSG00000164715 58 0 0 41 8 16.3265 DGAT1 0 genome.wustl.edu 37 8 145540279 145540279 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 8 145540279 145540279 C T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.1405 p.V469I 0.999 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 12 0 0 14 14 50 RHOBTB2 0 genome.wustl.edu 37 8 22874894 22874894 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 8 22874894 22874894 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.2096 p.R699Q 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 69 0 0 18 20 52.6316 WDR5 0 genome.wustl.edu 37 9 137007762 137007762 + Missense_Mutation SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 9 137007762 137007762 A G SNP WDR5 ENST00000358625 human ensembl 74_37 +1 known missense c.449 p.D150G 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 154 0 0 88 23 20.7207 SPATA31A6 0 genome.wustl.edu 37 9 43626810 43626810 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 9 43626810 43626810 G A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1877 p.S626L 0.003 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 237 0 0 61 33 35.1064 DMRT1 0 genome.wustl.edu 37 9 894128 894128 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 9 894128 894128 C T SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known missense c.755 p.P252L 0.996 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 189 0 0 73 49 40.1639 RHOXF1 0 genome.wustl.edu 37 X 119243203 119243203 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 119243203 119243203 C T SNP RHOXF1 ENST00000217999 human ensembl 74_37 -1 known missense c.502 p.A168T 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 150 0 0 113 27 19.2857 DCAF12L1 0 genome.wustl.edu 37 X 125685718 125685718 + Missense_Mutation SNP C C T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 125685718 125685718 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.874 p.G292R 0.000 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 123 0 0 82 27 24.7706 PLXNB3 0 genome.wustl.edu 37 X 153044076 153044076 + Missense_Mutation SNP T T G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 153044076 153044076 T G SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5641 p.C1881G 0.797 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 29 0 0 10 4 28.5714 ATP6AP1 0 genome.wustl.edu 37 X 153661991 153661991 + Silent SNP C C A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 153661991 153661991 C A SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known silent c.609 p.I203 0.356 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 114 0 0 100 30 23.0769 CNKSR2 0 genome.wustl.edu 37 X 21581449 21581449 + Nonsense_Mutation SNP C C G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 21581449 21581449 C G SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known nonsense c.1487 p.S496* 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 130 0 0 79 13 14.1304 CCDC120 0 genome.wustl.edu 37 X 48920041 48920041 + Missense_Mutation SNP G G A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 48920041 48920041 G A SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.197 p.R66H 1.000 pfam_DUF3338 pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 69 0 0 56 15 21.1268 XIST 0 genome.wustl.edu 37 X 73047029 73047029 + RNA SNP A A G TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a X 73047029 73047029 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 362 0 0 240 69 22.3301 USP21 0 genome.wustl.edu 37 1 161134659 161134660 + Frame_Shift_Ins INS - - A TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 1 161134659 161134660 - A INS USP21 ENST00000289865 human ensembl 74_37 +1 known frame_shift_ins c.1419_1420 p.S475fs 1.000:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 128 0 0 130 20 13.3333 GLIPR1L2 0 genome.wustl.edu 37 12 75816820 75816820 + Frame_Shift_Del DEL A A - TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 12 75816820 75816820 A - DEL GLIPR1L2 ENST00000320460 human ensembl 74_37 +1 known frame_shift_del c.721 p.N242fs 0.001 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 146 0 0 118 32 21.3333 APOB 0 genome.wustl.edu 37 2 21238075 21238076 + Frame_Shift_Ins INS - - T TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 2 21238075 21238076 - T INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.3566_3565 p.M1189fs 0.002:0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 295 0 0 205 43 17.3387 APC 0 genome.wustl.edu 37 5 112170788 112170788 + Frame_Shift_Del DEL T T - TCGA-CG-5718-01A-11D-1600-08 TCGA-CG-5718-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6984870c-6068-43b9-963e-19c487be25fa 29dcdb6f-c7c7-4b02-9dbb-f1abf297a26a 5 112170788 112170788 T - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.1884 p.L629fs 0.814 superfamily_ARM-type_fold,smart_Armadillo 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 ENSG00000134982 120 0 0 53 31 36.9048