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 AAAS 8086 genome.wustl.edu 37 12 53708178 53708178 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 53708178 53708178 G A SNP AAAS ENST00000209873 human ensembl 70_37 -1 known missense c.593 p.S198F 0.892 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC AAK1 22848 genome.wustl.edu 37 2 69757802 69757802 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 69757802 69757802 G A SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known silent c.693 p.V231 1.000 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 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 AAK1 HGNC ABCA12 26154 genome.wustl.edu 37 2 215802306 215802306 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 215802306 215802306 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.7470 p.L2490 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA13 154664 genome.wustl.edu 37 7 48318457 48318457 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 48318457 48318457 G A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.7666 p.D2556N 0.012 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCB8 11194 genome.wustl.edu 37 7 150739122 150739122 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 150739122 150739122 G A SNP ABCB8 ENST00000297504 human ensembl 70_37 +1 known silent c.1743 p.V581 0.019 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ABCC6 368 genome.wustl.edu 37 16 16248553 16248553 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 16248553 16248553 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.4140 p.L1380 0.775 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ABHD10 55347 genome.wustl.edu 37 3 111700728 111700728 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 111700728 111700728 C T SNP ABHD10 ENST00000273359 human ensembl 70_37 +1 known silent c.240 p.F80 1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ACAN 176 genome.wustl.edu 37 15 89400951 89400951 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 89400951 89400951 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.5135 p.G1712E 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACAN 176 genome.wustl.edu 37 15 89415302 89415302 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 89415302 89415302 G C SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.7174 p.D2392H 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACAP3 116983 genome.wustl.edu 37 1 1238334 1238334 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 1238334 1238334 C T SNP ACAP3 ENST00000353662 human ensembl 70_37 -1 known missense c.121 p.D41N 1.000 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ACCSL 390110 genome.wustl.edu 37 11 44079866 44079866 + Splice_Site SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 44079866 44079866 G C SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known splice_site c.1328-1 e12-1 1.000 - - - no_errors ACCSL HGNC ACRC 93953 genome.wustl.edu 37 X 70824305 70824305 + Nonsense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70824305 70824305 C G SNP ACRC ENST00000373695 human ensembl 70_37 +1 known nonsense c.1178 p.S393* 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ACTN2 88 genome.wustl.edu 37 1 236925802 236925802 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 236925802 236925802 G A SNP ACTN2 ENST00000366578 human ensembl 70_37 +1 known silent c.2568 p.P856 0.035 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ACTR5 79913 genome.wustl.edu 37 20 37378768 37378768 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 37378768 37378768 G A SNP ACTR5 ENST00000243903 human ensembl 70_37 +1 known missense c.491 p.G164E 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR5 HGNC ACVR1B 91 genome.wustl.edu 37 12 52379000 52379000 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 52379000 52379000 A G SNP ACVR1B ENST00000257963 human ensembl 70_37 +1 known missense c.1004 p.D335G 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ADAM23 8745 genome.wustl.edu 37 2 207413014 207413014 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 207413014 207413014 G T SNP ADAM23 ENST00000264377 human ensembl 70_37 +1 known missense c.803 p.R268I 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ADAMTS10 81794 genome.wustl.edu 37 19 8670211 8670211 + Missense_Mutation SNP T T A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 8670211 8670211 T A SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.121 p.I41F 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33527310 33527310 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 33527310 33527310 T C SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.4768 p.K1590E 0.002 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADCY8 114 genome.wustl.edu 37 8 131848627 131848627 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 131848627 131848627 C T SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.2571 p.L857 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 ADCY8 HGNC ETNPPL 64850 genome.wustl.edu 37 4 109669261 109669261 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 109669261 109669261 C G SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known missense c.982 p.E328Q 0.998 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC AHNAK 79026 genome.wustl.edu 37 11 62292606 62292606 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 62292606 62292606 C T SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.9283 p.D3095N 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AHNAK2 113146 genome.wustl.edu 37 14 105405974 105405974 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 105405974 105405974 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.15814 p.D5272N 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AK2 204 genome.wustl.edu 37 1 33490087 33490087 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 33490087 33490087 C T SNP AK2 ENST00000354858 human ensembl 70_37 -1 known missense c.175 p.E59K 1.000 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK2 HGNC AK2 204 genome.wustl.edu 37 1 33490112 33490112 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 33490112 33490112 C G SNP AK2 ENST00000354858 human ensembl 70_37 -1 known silent c.150 p.L50 1.000 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK2 HGNC AKNA 80709 genome.wustl.edu 37 9 117130767 117130767 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 117130767 117130767 C G SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.1525 p.E509Q 0.011 NULL pfam_TF_AT-hook - no_errors AKNA HGNC AKR7A2 8574 genome.wustl.edu 37 1 19633836 19633836 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 19633836 19633836 C T SNP AKR7A2 ENST00000235835 human ensembl 70_37 -1 known silent c.660 p.L220 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ALDH1L2 160428 genome.wustl.edu 37 12 105455416 105455416 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 105455416 105455416 C T SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known missense c.1036 p.E346K 0.968 superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ALG13 79868 genome.wustl.edu 37 X 110928226 110928226 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 110928226 110928226 G A SNP ALG13 ENST00000371979 human ensembl 70_37 +1 known missense c.278 p.G93E 0.981 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ALS2 57679 genome.wustl.edu 37 2 202622381 202622381 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 202622381 202622381 C T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known silent c.1215 p.V405 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC AMD1 262 genome.wustl.edu 37 6 111214813 111214813 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 111214813 111214813 G C SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.999 p.Q333H 1.000 pirsf_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139884800 139884800 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 139884800 139884800 G C SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.3244 p.E1082Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKRD28 23243 genome.wustl.edu 37 3 15717536 15717536 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 15717536 15717536 G A SNP ANKRD28 ENST00000498713 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD28 HGNC ANKRD30B 374860 genome.wustl.edu 37 18 14822628 14822628 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 14822628 14822628 C T SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.2338 p.L780F 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC AP3D1 8943 genome.wustl.edu 37 19 2102253 2102253 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 2102253 2102253 G C SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known silent c.3567 p.V1189 0.888 pfam_BLV_receptor pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC APOB 338 genome.wustl.edu 37 2 21260896 21260896 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 21260896 21260896 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.471 p.K157 1.000 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N 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 APRT 353 genome.wustl.edu 37 16 88876153 88876153 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88876153 88876153 C T SNP APRT ENST00000378364 human ensembl 70_37 -1 known missense c.496 p.E166K 0.994 tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ARAP2 116984 genome.wustl.edu 37 4 36230329 36230329 + Silent SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 36230329 36230329 T C SNP ARAP2 ENST00000303965 human ensembl 70_37 -1 known silent c.780 p.P260 0.004 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ARFGEF1 10565 genome.wustl.edu 37 8 68140257 68140257 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 68140257 68140257 C T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.3532 p.G1178R 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47591314 47591314 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 47591314 47591314 G A SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known silent c.1677 p.L559 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP4 393 genome.wustl.edu 37 X 153187188 153187188 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 153187188 153187188 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ARHGEF10L 55160 genome.wustl.edu 37 1 17975110 17975110 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 17975110 17975110 C G SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.2334 p.F778L 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156916478 156916478 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156916478 156916478 C T SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known silent c.2670 p.E890 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156927597 156927597 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156927597 156927597 C G SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.1513 p.E505Q 0.999 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF15 22899 genome.wustl.edu 37 17 8218800 8218800 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 8218800 8218800 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.1329 p.F443L 0.885 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ARID1A 8289 genome.wustl.edu 37 1 27089730 27089730 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 27089730 27089730 G C SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.2686 p.E896Q 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID2 196528 genome.wustl.edu 37 12 46231410 46231410 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 46231410 46231410 C T SNP ARID2 ENST00000334344 human ensembl 70_37 +1 known missense c.1250 p.S417L 1.000 superfamily_ARM-type_fold pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ARMC2 84071 genome.wustl.edu 37 6 109232115 109232115 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 109232115 109232115 G C SNP ARMC2 ENST00000392644 human ensembl 70_37 +1 known missense c.1037 p.R346T 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ARMC4 55130 genome.wustl.edu 37 10 28233243 28233243 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 28233243 28233243 G C SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known missense c.1651 p.L551V 0.997 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ARNT 405 genome.wustl.edu 37 1 150789274 150789274 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 150789274 150789274 C A SNP ARNT ENST00000358595 human ensembl 70_37 -1 known nonsense c.1792 p.E598* 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ARNT 405 genome.wustl.edu 37 1 150807072 150807072 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 150807072 150807072 G C SNP ARNT ENST00000358595 human ensembl 70_37 -1 known missense c.745 p.Q249E 1.000 pfam_PAS_fold pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ASAP1 50807 genome.wustl.edu 37 8 131088615 131088615 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 131088615 131088615 G A SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2680 p.L894F 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ASPHD1 253982 genome.wustl.edu 37 16 29912882 29912882 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 29912882 29912882 C T SNP ASPHD1 ENST00000308748 human ensembl 70_37 +1 known missense c.590 p.S197L 0.594 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ASPM 259266 genome.wustl.edu 37 1 197094291 197094291 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 197094291 197094291 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known nonsense c.2967 p.W989* 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ASPSCR1 79058 genome.wustl.edu 37 17 79973128 79973128 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79973128 79973128 C T SNP ASPSCR1 ENST00000306729 human ensembl 70_37 +1 known missense c.1531 p.P511S 0.000 NULL pfam_TUG,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ASTL 431705 genome.wustl.edu 37 2 96803369 96803369 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 96803369 96803369 G C SNP ASTL ENST00000342380 human ensembl 70_37 -1 known silent c.126 p.L42 0.000 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ASXL2 55252 genome.wustl.edu 37 2 25966982 25966982 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 25966982 25966982 C T SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.2224 p.E742K 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ATAT1 79969 genome.wustl.edu 37 6 30614559 30614559 + RNA SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 30614559 30614559 C A SNP ATAT1 ENST00000468713 human ensembl 70_37 +1 known rna NULL NULL 0.609 - - - no_errors ATAT1 HGNC ATF7IP2 80063 genome.wustl.edu 37 16 10565998 10565998 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 10565998 10565998 G T SNP ATF7IP2 ENST00000356427 human ensembl 70_37 +1 known nonsense c.1384 p.E462* 1.000 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ATG13 9776 genome.wustl.edu 37 11 46690371 46690371 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46690371 46690371 G C SNP ATG13 ENST00000312040 human ensembl 70_37 +1 known missense c.1258 p.E420Q 0.001 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ATG4C 84938 genome.wustl.edu 37 1 63329772 63329772 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 63329772 63329772 C T SNP ATG4C ENST00000317868 human ensembl 70_37 +1 known missense c.1319 p.S440L 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4C HGNC ATMIN 23300 genome.wustl.edu 37 16 81078778 81078778 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 81078778 81078778 C G SNP ATMIN ENST00000539819 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors ATMIN HGNC ATP13A5 344905 genome.wustl.edu 37 3 193081033 193081033 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 193081033 193081033 C G SNP ATP13A5 ENST00000342358 human ensembl 70_37 -1 known missense c.376 p.E126Q 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ATP8B5P 158381 genome.wustl.edu 37 9 35450039 35450039 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 35450039 35450039 C T SNP ATP8B5P ENST00000430846 human ensembl 70_37 +1 known rna NULL NULL 0.772 - - - no_errors ATP8B5P HGNC ATR 545 genome.wustl.edu 37 3 142178163 142178163 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 142178163 142178163 C T SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.7255 p.E2419K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ATR 545 genome.wustl.edu 37 3 142184050 142184050 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 142184050 142184050 C G SNP ATR ENST00000350721 human ensembl 70_37 -1 known missense c.6930 p.K2310N 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ATRIP 84126 genome.wustl.edu 37 3 48506952 48506952 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48506952 48506952 G A SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known silent c.2375 p.*792 0.997 NULL NULL - no_errors ATRIP HGNC ATRNL1 26033 genome.wustl.edu 37 10 117059712 117059712 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 117059712 117059712 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.2584 p.P862S 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ATRX 546 genome.wustl.edu 37 X 76938516 76938516 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 76938516 76938516 C T SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.2232 p.M744I 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC AUP1 550 genome.wustl.edu 37 2 74756717 74756717 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 74756717 74756717 C G SNP AUP1 ENST00000377526 human ensembl 70_37 -1 known missense c.40 p.D14H 1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC AUTS2 26053 genome.wustl.edu 37 7 70254876 70254876 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 70254876 70254876 G C SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known missense c.2674 p.E892Q 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC AXIN2 8313 genome.wustl.edu 37 17 63534325 63534325 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 63534325 63534325 C T SNP AXIN2 ENST00000307078 human ensembl 70_37 -1 known missense c.1196 p.R399Q 0.944 NULL pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN2 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1392586 1392586 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1392586 1392586 C T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.1121 p.S374L 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1392626 1392626 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1392626 1392626 C T SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known silent c.1161 p.I387 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BCOR 54880 genome.wustl.edu 37 X 39937175 39937175 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 39937175 39937175 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.8 p.S3L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BEX5 340542 genome.wustl.edu 37 X 101408943 101408943 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101408943 101408943 G C SNP BEX5 ENST00000333643 human ensembl 70_37 -1 known missense c.295 p.P99A 0.971 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX5 HGNC BIRC6 57448 genome.wustl.edu 37 2 32693008 32693008 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 32693008 32693008 G A SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.5609 p.R1870K 1.000 superfamily_Galactose-bd-like 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 BMPER 168667 genome.wustl.edu 37 7 34118526 34118526 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 34118526 34118526 C T SNP BMPER ENST00000297161 human ensembl 70_37 +1 known missense c.1136 p.T379I 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC BRS3 680 genome.wustl.edu 37 X 135574333 135574333 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 135574333 135574333 G C SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known silent c.999 p.L333 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC BRWD1 54014 genome.wustl.edu 37 21 40608645 40608645 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 40608645 40608645 C G SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.2642 p.R881T 0.015 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BRWD3 254065 genome.wustl.edu 37 X 79965077 79965077 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 79965077 79965077 C T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known splice_site c.2326-1 e21-1 1.000 - - - no_errors BRWD3 HGNC BSN 8927 genome.wustl.edu 37 3 49689000 49689000 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49689000 49689000 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known nonsense c.2011 p.Q671* 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BTK 695 genome.wustl.edu 37 X 100613379 100613379 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 100613379 100613379 G C SNP BTK ENST00000308731 human ensembl 70_37 -1 known missense c.1021 p.Q341E 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC C10orf11 83938 genome.wustl.edu 37 10 77795880 77795880 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 77795880 77795880 C T SNP C10orf11 ENST00000372499 human ensembl 70_37 +1 known silent c.162 p.L54 1.000 NULL NULL - no_errors C10orf11 HGNC C12orf43 64897 genome.wustl.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 121454196 121454196 C T SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.82 p.E28K 0.999 NULL NULL - no_errors C12orf43 HGNC C16orf82 162083 genome.wustl.edu 37 16 27079143 27079143 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27079143 27079143 G A SNP C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors C16orf82 HGNC C16orf82 162083 genome.wustl.edu 37 16 27079378 27079378 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27079378 27079378 G C SNP C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC C16orf91 283951 genome.wustl.edu 37 16 1470551 1470551 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1470551 1470551 G A SNP C16orf91 ENST00000310355 human ensembl 70_37 -1 known missense c.566 p.S189F 0.014 NULL prints_CCSMST1 - no_errors C16orf91 HGNC C17orf62 79415 genome.wustl.edu 37 17 80401492 80401492 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 80401492 80401492 G A SNP C17orf62 ENST00000336995 human ensembl 70_37 -1 known silent c.507 p.L169 0.000 NULL NULL - no_errors C17orf62 HGNC C17orf62 79415 genome.wustl.edu 37 17 80401499 80401499 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 80401499 80401499 C T SNP C17orf62 ENST00000336995 human ensembl 70_37 -1 known missense c.500 p.G167E 0.000 NULL NULL - no_errors C17orf62 HGNC C19orf35 374872 genome.wustl.edu 37 19 2280831 2280831 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 2280831 2280831 C T SNP C19orf35 ENST00000590316 human ensembl 70_37 -1 known missense c.100 p.E34K 0.005 NULL NULL - no_errors C19orf35 HGNC C1orf109 54955 genome.wustl.edu 37 1 38148726 38148726 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 38148726 38148726 G C SNP C1orf109 ENST00000464178 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf109 HGNC C1orf112 55732 genome.wustl.edu 37 1 169770059 169770059 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 169770059 169770059 C T SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.13 p.H5Y 1.000 NULL NULL - no_errors C1orf112 HGNC C1orf116 79098 genome.wustl.edu 37 1 207195713 207195713 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 207195713 207195713 G A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.1396 p.L466F 0.280 NULL NULL - no_errors C1orf116 HGNC C1orf116 79098 genome.wustl.edu 37 1 207196772 207196772 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 207196772 207196772 C A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known nonsense c.337 p.E113* 0.000 NULL NULL - no_errors C1orf116 HGNC C1orf123 54987 genome.wustl.edu 37 1 53685871 53685871 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 53685871 53685871 G A SNP C1orf123 ENST00000474227 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf123 HGNC C1orf170 84808 genome.wustl.edu 37 1 911633 911633 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 911633 911633 G A SNP C1orf170 ENST00000433179 human ensembl 70_37 -1 known silent c.2010 p.V670 0.827 NULL NULL - no_errors C1orf170 HGNC C1orf170 84808 genome.wustl.edu 37 1 911980 911980 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 911980 911980 G A SNP C1orf170 ENST00000433179 human ensembl 70_37 -1 known missense c.1892 p.S631L 0.026 NULL NULL - no_errors C1orf170 HGNC C2orf43 60526 genome.wustl.edu 37 2 21001202 21001202 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 21001202 21001202 C T SNP C2orf43 ENST00000237822 human ensembl 70_37 -1 known missense c.22 p.E8K 0.889 NULL pfam_DUF2305 - no_errors C2orf43 HGNC C3orf37 56941 genome.wustl.edu 37 3 129007710 129007710 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 129007710 129007710 C T SNP C3orf37 ENST00000383463 human ensembl 70_37 +1 known missense c.197 p.S66F 1.000 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC C3orf37 56941 genome.wustl.edu 37 3 129007720 129007720 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 129007720 129007720 C T SNP C3orf37 ENST00000383463 human ensembl 70_37 +1 known silent c.207 p.I69 0.705 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC C6 729 genome.wustl.edu 37 5 41201697 41201697 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 41201697 41201697 C T SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.263 p.G88E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC C9orf89 84270 genome.wustl.edu 37 9 95870053 95870053 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 95870053 95870053 G C SNP C9orf89 ENST00000466409 human ensembl 70_37 +1 known silent c.105 p.L35 0.999 NULL superfamily_DEATH-like - no_errors C9orf89 HGNC CACHD1 57685 genome.wustl.edu 37 1 65142651 65142651 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 65142651 65142651 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.3049 p.H1017Y 0.996 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CAMK2D 817 genome.wustl.edu 37 4 114468803 114468803 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 114468803 114468803 C T SNP CAMK2D ENST00000511664 human ensembl 70_37 -1 novel silent c.411 p.L137 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2D HGNC CAMK2G 818 genome.wustl.edu 37 10 75576468 75576468 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 75576468 75576468 C T SNP CAMK2G ENST00000487167 human ensembl 70_37 -1 known rna NULL NULL 0.155 - - - no_errors CAMK2G HGNC CAMKMT 79823 genome.wustl.edu 37 2 44981214 44981214 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 44981214 44981214 G A SNP CAMKMT ENST00000378494 human ensembl 70_37 +1 known missense c.719 p.R240K 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC CAPN9 10753 genome.wustl.edu 37 1 230903363 230903363 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 230903363 230903363 G A SNP CAPN9 ENST00000271971 human ensembl 70_37 +1 known missense c.613 p.E205K 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN9 HGNC CARD10 29775 genome.wustl.edu 37 22 37891921 37891921 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 37891921 37891921 C T SNP CARD10 ENST00000251973 human ensembl 70_37 -1 known missense c.2149 p.E717K 0.992 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC CARD6 84674 genome.wustl.edu 37 5 40853884 40853884 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 40853884 40853884 G A SNP CARD6 ENST00000254691 human ensembl 70_37 +1 known missense c.2450 p.R817K 0.053 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC CASP16 197350 genome.wustl.edu 37 16 3197904 3197904 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3197904 3197904 C T SNP CASP16 ENST00000428155 human ensembl 70_37 +1 known silent c.243 p.I81 0.967 pfam_Pept_C14_cat,smart_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP16 HGNC CASP8 841 genome.wustl.edu 37 2 202150039 202150039 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 202150039 202150039 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1480 p.R494* 0.956 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CATSPER2P1 440278 genome.wustl.edu 37 15 44020967 44020967 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 44020967 44020967 C G SNP CATSPER2P1 ENST00000446479 human ensembl 70_37 -1 putative rna NULL NULL 0.999 - - - no_errors CATSPER2P1 HGNC CCDC120 90060 genome.wustl.edu 37 X 48923078 48923078 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 48923078 48923078 G A SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known missense c.776 p.R259Q 0.991 NULL pfam_DUF3338 - no_errors CCDC120 HGNC CCDC122 160857 genome.wustl.edu 37 13 44443506 44443506 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 44443506 44443506 C T SNP CCDC122 ENST00000281508 human ensembl 70_37 -1 known missense c.7 p.D3N 0.061 NULL NULL - no_errors CCDC122 HGNC CCDC146 57639 genome.wustl.edu 37 7 76751981 76751981 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 76751981 76751981 G C SNP CCDC146 ENST00000495584 human ensembl 70_37 +1 putative rna NULL NULL 0.774 - - - no_errors CCDC146 HGNC CCDC19 25790 genome.wustl.edu 37 1 159846318 159846318 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 159846318 159846318 G A SNP CCDC19 ENST00000475911 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC CCDC28B 79140 genome.wustl.edu 37 1 32669565 32669565 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 32669565 32669565 G A SNP CCDC28B ENST00000373602 human ensembl 70_37 +1 known missense c.250 p.E84K 1.000 NULL NULL - no_errors CCDC28B HGNC CCDC78 124093 genome.wustl.edu 37 16 775574 775574 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 775574 775574 G A SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known missense c.274 p.R92W 0.421 NULL NULL - no_errors CCDC78 HGNC CCR8 1237 genome.wustl.edu 37 3 39374122 39374122 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 39374122 39374122 G A SNP CCR8 ENST00000414803 human ensembl 70_37 +1 putative missense c.127 p.V43I 0.969 NULL NULL - no_errors CCR8 HGNC CD97 976 genome.wustl.edu 37 19 14513660 14513660 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 14513660 14513660 G A SNP CD97 ENST00000242786 human ensembl 70_37 +1 known missense c.1435 p.D479N 0.000 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CDC14B 8555 genome.wustl.edu 37 9 99266066 99266066 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 99266066 99266066 G C SNP CDC14B ENST00000375241 human ensembl 70_37 -1 known missense c.1466 p.S489C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC CDC25A 993 genome.wustl.edu 37 3 48224493 48224493 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48224493 48224493 G C SNP CDC25A ENST00000302506 human ensembl 70_37 -1 known missense c.355 p.L119V 0.999 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC CDC25A 993 genome.wustl.edu 37 3 48224499 48224499 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48224499 48224499 G A SNP CDC25A ENST00000302506 human ensembl 70_37 -1 known missense c.349 p.P117S 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC CDH1 999 genome.wustl.edu 37 16 68862194 68862194 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 68862194 68862194 G A SNP CDH1 ENST00000261769 human ensembl 70_37 +1 known missense c.2282 p.G761E 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC CDKN2A 1029 genome.wustl.edu 37 9 21974735 21974735 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 21974735 21974735 A C SNP CDKN2A ENST00000446177 human ensembl 70_37 -1 known missense c.92 p.L31R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC CDRT4 284040 genome.wustl.edu 37 17 15341337 15341337 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 15341337 15341337 G A SNP CDRT4 ENST00000312177 human ensembl 70_37 -1 known missense c.209 p.S70F 0.001 superfamily_RNA_pol_subH/Rpb5_C superfamily_RNA_pol_subH/Rpb5_C - no_errors CDRT4 HGNC CECR1 51816 genome.wustl.edu 37 22 17670774 17670774 + RNA SNP A A T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 17670774 17670774 A T SNP CECR1 ENST00000480276 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CECR1 HGNC CENPF 1063 genome.wustl.edu 37 1 214819778 214819778 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 214819778 214819778 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.6865 p.L2289V 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CEP128 145508 genome.wustl.edu 37 14 80993257 80993257 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 80993257 80993257 G A SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known nonsense c.3028 p.Q1010* 1.000 NULL NULL - no_errors CEP128 HGNC CEP170 9859 genome.wustl.edu 37 1 243289744 243289744 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 243289744 243289744 G A SNP CEP170 ENST00000466495 human ensembl 70_37 -1 known rna NULL NULL 0.206 - - - no_errors CEP170 HGNC CEP170 9859 genome.wustl.edu 37 1 243303301 243303301 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 243303301 243303301 G A SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known nonsense c.4168 p.Q1390* 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CFP 5199 genome.wustl.edu 37 X 47486689 47486689 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 47486689 47486689 G A SNP CFP ENST00000247153 human ensembl 70_37 -1 known missense c.617 p.S206L 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC CGN 57530 genome.wustl.edu 37 1 151508255 151508255 + Splice_Site SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 151508255 151508255 G A SNP CGN ENST00000271636 human ensembl 70_37 +1 known splice_site c.3079-1 e17-1 1.000 - - - no_errors CGN HGNC CGN 57530 genome.wustl.edu 37 1 151509793 151509793 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 151509793 151509793 G A SNP CGN ENST00000271636 human ensembl 70_37 +1 known missense c.3583 p.E1195K 0.999 NULL pfam_Myosin_tail - no_errors CGN HGNC CHD3 1107 genome.wustl.edu 37 17 7814210 7814210 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7814210 7814210 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.5800 p.A1934T 0.968 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_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,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 CHD5 26038 genome.wustl.edu 37 1 6211203 6211203 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 6211203 6211203 C T SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known missense c.883 p.E295K 0.959 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_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,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 CHD6 84181 genome.wustl.edu 37 20 40034123 40034123 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 40034123 40034123 G A SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.7258 p.L2420F 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHST7 56548 genome.wustl.edu 37 X 46433633 46433633 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 46433633 46433633 C T SNP CHST7 ENST00000276055 human ensembl 70_37 +1 known silent c.267 p.L89 0.282 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC CLASRP 11129 genome.wustl.edu 37 19 45567797 45567797 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 45567797 45567797 C T SNP CLASRP ENST00000221455 human ensembl 70_37 +1 known missense c.1318 p.R440W 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC CLCN5 1184 genome.wustl.edu 37 X 49855078 49855078 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 49855078 49855078 G A SNP CLCN5 ENST00000376088 human ensembl 70_37 +1 known missense c.2050 p.E684K 0.993 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC CLCN6 1185 genome.wustl.edu 37 1 11894623 11894623 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 11894623 11894623 G A SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known nonsense c.1769 p.W590* 1.000 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC CLSPN 63967 genome.wustl.edu 37 1 36226099 36226099 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 36226099 36226099 C T SNP CLSPN ENST00000318121 human ensembl 70_37 -1 known missense c.1423 p.E475K 0.000 NULL NULL - no_errors CLSPN HGNC CMIP 80790 genome.wustl.edu 37 16 81703836 81703836 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 81703836 81703836 G A SNP CMIP ENST00000537098 human ensembl 70_37 +1 known silent c.915 p.K305 1.000 NULL NULL - no_errors CMIP HGNC CNGB1 1258 genome.wustl.edu 37 16 57937756 57937756 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57937756 57937756 C T SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.2764 p.E922K 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC CNGB1 1258 genome.wustl.edu 37 16 57957253 57957253 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57957253 57957253 C T SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.1567 p.E523K 0.991 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC CNKSR2 22866 genome.wustl.edu 37 X 21670430 21670430 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 21670430 21670430 G C SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.2896 p.E966Q 1.000 NULL 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 CNPY3 10695 genome.wustl.edu 37 6 42897393 42897393 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 42897393 42897393 G A SNP CNPY3 ENST00000372836 human ensembl 70_37 +1 known missense c.85 p.E29K 0.977 NULL pfam_DUF3456 - no_errors CNPY3 HGNC CNTN3 5067 genome.wustl.edu 37 3 74315737 74315737 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 74315737 74315737 C T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.2881 p.E961K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC CNTN3 5067 genome.wustl.edu 37 3 74316501 74316503 + In_Frame_Del DEL AAC AAC - TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 74316501 74316503 AAC - DEL CNTN3 ENST00000263665 human ensembl 70_37 -1 known in_frame_del c.2733_2731 p.V911in_frame_del 0.971:0.997:0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC COBLL1 22837 genome.wustl.edu 37 2 165586569 165586569 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 165586569 165586569 G C SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known nonsense c.446 p.S149* 1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC COG2 22796 genome.wustl.edu 37 1 230825835 230825835 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 230825835 230825835 G A SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.1870 p.D624N 0.136 pfam_COG_complex_COG2_C pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC COL13A1 1305 genome.wustl.edu 37 10 71582155 71582155 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 71582155 71582155 G A SNP COL13A1 ENST00000356340 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_Collagen - no_errors COL13A1 HGNC COL17A1 1308 genome.wustl.edu 37 10 105793763 105793763 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 105793763 105793763 C G SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.4096 p.D1366H 0.267 NULL pfam_Collagen - no_errors COL17A1 HGNC COL19A1 1310 genome.wustl.edu 37 6 70875853 70875853 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 70875853 70875853 G A SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known silent c.2421 p.G807 0.992 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86313364 86313364 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 86313364 86313364 C T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.3446 p.G1149E 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL25A1 84570 genome.wustl.edu 37 4 109783676 109783676 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 109783676 109783676 C T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known missense c.1178 p.R393K 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48369200 48369200 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 48369200 48369200 G C SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known silent c.3786 p.L1262 1.000 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL3A1 1281 genome.wustl.edu 37 2 189862095 189862095 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 189862095 189862095 C T SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known nonsense c.1849 p.Q617* 0.225 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC COL4A1 1282 genome.wustl.edu 37 13 110859046 110859046 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 110859046 110859046 C T SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known missense c.824 p.G275E 0.816 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC COL4A1 1282 genome.wustl.edu 37 13 110859214 110859214 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 110859214 110859214 G A SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known nonsense c.805 p.Q269* 0.076 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC COL7A1 1294 genome.wustl.edu 37 3 48602852 48602852 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48602852 48602852 C G SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.8518 p.E2840Q 0.912 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC COL9A3 1299 genome.wustl.edu 37 20 61460830 61460830 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 61460830 61460830 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known silent c.1032 p.S344 1.000 NULL pfam_Collagen - no_errors COL9A3 HGNC CPN2 1370 genome.wustl.edu 37 3 194062052 194062052 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 194062052 194062052 G C SNP CPN2 ENST00000323830 human ensembl 70_37 -1 known missense c.1380 p.D460E 0.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC CPVL 54504 genome.wustl.edu 37 7 29126135 29126135 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 29126135 29126135 C T SNP CPVL ENST00000265394 human ensembl 70_37 -1 known missense c.574 p.E192K 1.000 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC CPZ 8532 genome.wustl.edu 37 4 8603131 8603131 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 8603131 8603131 G A SNP CPZ ENST00000360986 human ensembl 70_37 +1 known missense c.403 p.A135T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC CRAMP1L 57585 genome.wustl.edu 37 16 1676140 1676140 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 1676140 1676140 G A SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known silent c.513 p.K171 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC CRX 1406 genome.wustl.edu 37 19 48343195 48343195 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 48343195 48343195 C G SNP CRX ENST00000221996 human ensembl 70_37 +1 known missense c.871 p.Q291E 1.000 NULL pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC CRY2 1408 genome.wustl.edu 37 11 45869177 45869177 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 45869177 45869177 G A SNP CRY2 ENST00000443527 human ensembl 70_37 +1 known missense c.199 p.G67R 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC CRYAA 1409 genome.wustl.edu 37 21 44590668 44590668 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 44590668 44590668 G A SNP CRYAA ENST00000291554 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC CSE1L 1434 genome.wustl.edu 37 20 47689161 47689161 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 47689161 47689161 G A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known silent c.993 p.K331 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC CSE1L 1434 genome.wustl.edu 37 20 47712752 47712752 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 47712752 47712752 G A SNP CSE1L ENST00000469700 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CSE1L HGNC CSGALNACT1 55790 genome.wustl.edu 37 8 19316060 19316060 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 19316060 19316060 C G SNP CSGALNACT1 ENST00000311540 human ensembl 70_37 -1 known missense c.728 p.R243P 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3351249 3351249 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 3351249 3351249 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known splice_site c.1348-1 e12-1 1.000 - - - no_errors CSMD1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113649101 113649101 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 113649101 113649101 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.3660 p.I1220 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSMD3 114788 genome.wustl.edu 37 8 113668533 113668533 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 113668533 113668533 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.2854 p.H952Y 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CTPS2 56474 genome.wustl.edu 37 X 16720991 16720991 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 16720991 16720991 G T SNP CTPS2 ENST00000359276 human ensembl 70_37 -1 known nonsense c.35 p.S12* 1.000 pfam_CTP_synthase_N,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase - no_errors CTPS2 HGNC CTU2 348180 genome.wustl.edu 37 16 88779087 88779087 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88779087 88779087 G A SNP CTU2 ENST00000567949 human ensembl 70_37 +1 known missense c.724 p.E242K 0.000 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC CUL5 8065 genome.wustl.edu 37 11 107968424 107968424 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 107968424 107968424 C T SNP CUL5 ENST00000393094 human ensembl 70_37 +1 known missense c.1967 p.S656L 1.000 pfam_Cullin_N,superfamily_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC CXorf64 100130613 genome.wustl.edu 37 X 125955019 125955019 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 125955019 125955019 C T SNP CXorf64 ENST00000371125 human ensembl 70_37 +1 known missense c.398 p.S133F 0.126 NULL NULL - no_errors CXorf64 HGNC CYP2A7 1549 genome.wustl.edu 37 19 41381616 41381616 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 41381616 41381616 C A SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.1467 p.M489I 0.873 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC CYP2A7 1549 genome.wustl.edu 37 19 41386426 41386426 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 41386426 41386426 C T SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.451 p.E151K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC CYP2A7 1549 genome.wustl.edu 37 19 41386523 41386523 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 41386523 41386523 G A SNP CYP2A7 ENST00000594332 human ensembl 70_37 -1 known missense c.191 p.S64L 0.809 NULL superfamily_Cyt_P450 - no_errors CYP2A7 HGNC CYP2C18 1562 genome.wustl.edu 37 10 96443712 96443712 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 96443712 96443712 G A SNP CYP2C18 ENST00000285979 human ensembl 70_37 +1 known missense c.136 p.D46N 0.058 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC CYP4F3 4051 genome.wustl.edu 37 19 15770127 15770127 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 15770127 15770127 C T SNP CYP4F3 ENST00000221307 human ensembl 70_37 +1 known missense c.1495 p.R499C 0.422 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC CYTH1 9267 genome.wustl.edu 37 17 76676417 76676417 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 76676417 76676417 C G SNP CYTH1 ENST00000361101 human ensembl 70_37 -1 known missense c.973 p.E325Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH1 HGNC DBNL 28988 genome.wustl.edu 37 7 44097863 44097863 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 44097863 44097863 G A SNP DBNL ENST00000468694 human ensembl 70_37 +1 known missense c.688 p.E230K 0.001 NULL pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC DCHS1 8642 genome.wustl.edu 37 11 6650693 6650693 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 6650693 6650693 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.5151 p.I1717 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCLRE1B 64858 genome.wustl.edu 37 1 114456243 114456243 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 114456243 114456243 C T SNP DCLRE1B ENST00000466480 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors DCLRE1B HGNC DCST1 149095 genome.wustl.edu 37 1 155007000 155007000 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155007000 155007000 C G SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.151 p.L51V 1.000 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC DDIT4L 115265 genome.wustl.edu 37 4 101108882 101108882 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 101108882 101108882 C T SNP DDIT4L ENST00000273990 human ensembl 70_37 -1 known silent c.534 p.K178 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC DDOST 1650 genome.wustl.edu 37 1 20987829 20987829 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 20987829 20987829 G A SNP DDOST ENST00000375048 human ensembl 70_37 -1 known silent c.66 p.T22 0.000 NULL pfam_OligosaccharylTrfase_su_Wbp1 - no_errors DDOST HGNC DDR2 4921 genome.wustl.edu 37 1 162749934 162749934 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 162749934 162749934 C T SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known silent c.2466 p.D822 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,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC DFNB31 25861 genome.wustl.edu 37 9 117240670 117240670 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 117240670 117240670 G C SNP DFNB31 ENST00000374057 human ensembl 70_37 -1 known missense c.1000 p.L334V 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DFNB31 25861 genome.wustl.edu 37 9 117240709 117240709 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 117240709 117240709 G C SNP DFNB31 ENST00000374057 human ensembl 70_37 -1 known missense c.961 p.Q321E 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DGKG 1608 genome.wustl.edu 37 3 186006655 186006655 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 186006655 186006655 C T SNP DGKG ENST00000265022 human ensembl 70_37 -1 known missense c.388 p.E130K 0.026 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC DHX36 170506 genome.wustl.edu 37 3 154006737 154006737 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 154006737 154006737 C T SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known missense c.1949 p.G650E 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC DLG1 1739 genome.wustl.edu 37 3 197023292 197023292 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197023292 197023292 C T SNP DLG1 ENST00000346964 human ensembl 70_37 -1 known missense c.76 p.E26K 1.000 pfam_L27_1,smart_L27,pirsf_M-assoc_guanylate_kinase,pfscan_L27 pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC DMXL2 23312 genome.wustl.edu 37 15 51748512 51748512 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 51748512 51748512 G C SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.8329 p.Q2777E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH10 196385 genome.wustl.edu 37 12 124413920 124413920 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 124413920 124413920 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.12051 p.F4017L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH2 146754 genome.wustl.edu 37 17 7669719 7669719 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7669719 7669719 G C SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.3595 p.E1199Q 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAJC3 5611 genome.wustl.edu 37 13 96438251 96438251 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 96438251 96438251 A C SNP DNAJC3 ENST00000376795 human ensembl 70_37 +1 known missense c.1134 p.E378D 1.000 NULL pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC DNAJC3 5611 genome.wustl.edu 37 13 96438258 96438258 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 96438258 96438258 G C SNP DNAJC3 ENST00000376795 human ensembl 70_37 +1 known missense c.1141 p.E381Q 1.000 NULL pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC3 HGNC DOCK6 57572 genome.wustl.edu 37 19 11332632 11332632 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 11332632 11332632 C T SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.3445 p.D1149N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37605362 37605362 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 37605362 37605362 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.2611 p.D871N 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DPP6 1804 genome.wustl.edu 37 7 154237635 154237635 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 154237635 154237635 G A SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known missense c.476 p.R159K 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC DPYD 1806 genome.wustl.edu 37 1 97544576 97544576 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 97544576 97544576 C A SNP DPYD ENST00000370192 human ensembl 70_37 -1 known nonsense c.3034 p.E1012* 1.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC RIPPLY3 53820 genome.wustl.edu 37 21 38390286 38390286 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 38390286 38390286 G A SNP DSCR6 ENST00000329553 human ensembl 70_37 +1 known missense c.352 p.E118K 0.009 NULL NULL - no_errors DSCR6 HGNC DSG2 1829 genome.wustl.edu 37 18 29126264 29126264 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 29126264 29126264 C T SNP DSG2 ENST00000261590 human ensembl 70_37 +1 known missense c.2915 p.S972F 0.059 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG2 HGNC DSG3 1830 genome.wustl.edu 37 18 29049278 29049278 + Silent SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 29049278 29049278 C A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known silent c.1863 p.I621 0.339 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DUSP16 80824 genome.wustl.edu 37 12 12630173 12630173 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 12630173 12630173 G C SNP DUSP16 ENST00000228862 human ensembl 70_37 -1 known missense c.1592 p.S531C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ECT2L 345930 genome.wustl.edu 37 6 139203879 139203879 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 139203879 139203879 G A SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known silent c.1899 p.L633 0.983 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC EEF1G 1937 genome.wustl.edu 37 11 62327819 62327819 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 62327819 62327819 C T SNP EEF1G ENST00000378019 human ensembl 70_37 -1 known nonsense c.1115 p.W372* 1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC EGFR 1956 genome.wustl.edu 37 7 55249087 55249087 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 55249087 55249087 C T SNP EGFR ENST00000275493 human ensembl 70_37 +1 known silent c.2385 p.F795 0.896 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC EHMT1 79813 genome.wustl.edu 37 9 140605430 140605430 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 140605430 140605430 G A SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known silent c.33 p.A11 0.062 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ELAVL4 1996 genome.wustl.edu 37 1 50659540 50659540 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 50659540 50659540 C T SNP ELAVL4 ENST00000371821 human ensembl 70_37 +1 known missense c.473 p.S158L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ELMO2 63916 genome.wustl.edu 37 20 45003955 45003955 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 45003955 45003955 C G SNP ELMO2 ENST00000439931 human ensembl 70_37 -1 known missense c.1021 p.D341H 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ELMO3 79767 genome.wustl.edu 37 16 67233124 67233124 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 67233124 67233124 C T SNP ELMO3 ENST00000393997 human ensembl 70_37 +1 known silent c.54 p.L18 0.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ELN 2006 genome.wustl.edu 37 7 73483018 73483018 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 73483018 73483018 G A SNP ELN ENST00000358929 human ensembl 70_37 +1 known silent c.2367 p.R789 1.000 prints_Tropoelastin prints_Tropoelastin - no_errors ELN HGNC EMG1 10436 genome.wustl.edu 37 12 7079948 7079948 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 7079948 7079948 C T SNP EMG1 ENST00000261406 human ensembl 70_37 +1 known rna NULL NULL 0.073 - - - no_errors EMG1 HGNC EML3 256364 genome.wustl.edu 37 11 62373588 62373588 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 62373588 62373588 C G SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.1603 p.D535H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC EML6 400954 genome.wustl.edu 37 2 55130535 55130535 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 55130535 55130535 C T SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.3305 p.S1102F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000203971 0 genome.wustl.edu 37 20 56533974 56533974 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 56533974 56533974 G A SNP ENSG00000203971 ENST00000371169 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP13-379L11.2 Clone_based_vega_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64707 64707 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 GL000212.1 64707 64707 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.456 p.T152 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000218819 0 genome.wustl.edu 37 2 21365644 21365644 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 21365644 21365644 C T SNP ENSG00000218819 ENST00000405799 human ensembl 70_37 +1 novel silent c.5305 p.L1769 0.058 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors AC010872.2 Clone_based_vega_gene ENSG00000223200 0 genome.wustl.edu 37 5 60853118 60853118 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 60853118 60853118 G A SNP ENSG00000223200 ENST00000411268 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008836.1 Clone_based_ensembl_gene ENSG00000224141 0 genome.wustl.edu 37 21 19933965 19933965 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 19933965 19933965 C T SNP ENSG00000224141 ENST00000355189 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AL109763.2 Clone_based_vega_gene ENSG00000224215 0 genome.wustl.edu 37 10 23633008 23633008 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 23633008 23633008 G A SNP ENSG00000224215 ENST00000443224 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-371A19.2 Clone_based_vega_gene ENSG00000232554 0 genome.wustl.edu 37 10 45602409 45602409 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 45602409 45602409 C T SNP ENSG00000232554 ENST00000423875 human ensembl 70_37 -1 known rna NULL NULL 0.942 - - - no_errors RP11-445N18.9 Clone_based_vega_gene ENSG00000232633 0 genome.wustl.edu 37 5 112768996 112768996 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 112768996 112768996 G A SNP ENSG00000232633 ENST00000416046 human ensembl 70_37 +1 known rna NULL NULL 0.195 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000232633 0 genome.wustl.edu 37 5 112769108 112769108 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 112769108 112769108 C T SNP ENSG00000232633 ENST00000416046 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000233937 0 genome.wustl.edu 37 5 180684379 180684379 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 180684379 180684379 G A SNP ENSG00000233937 ENST00000417281 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143398948 143398948 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 143398948 143398948 G A SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.157 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000240338 0 genome.wustl.edu 37 16 75260568 75260568 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 75260568 75260568 C T SNP ENSG00000240338 ENST00000489723 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-331F4.4 Clone_based_vega_gene ENSG00000244227 0 genome.wustl.edu 37 3 167621185 167621185 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 167621185 167621185 C T SNP ENSG00000244227 ENST00000459923 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000249391 0 genome.wustl.edu 37 4 2446868 2446868 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 2446868 2446868 G C SNP ENSG00000249391 ENST00000514556 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-503N18.2 Clone_based_vega_gene ENSG00000253643 0 genome.wustl.edu 37 8 24349638 24349638 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 24349638 24349638 C T SNP ENSG00000253643 ENST00000519364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-561E1.1 Clone_based_vega_gene ENSG00000256006 0 genome.wustl.edu 37 11 18427225 18427225 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 18427225 18427225 G A SNP ENSG00000256006 ENST00000496975 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC084117.3 Clone_based_vega_gene ENSG00000256249 0 genome.wustl.edu 37 12 123200108 123200108 + RNA SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 123200108 123200108 G T SNP ENSG00000256249 ENST00000543611 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-324E6.6 Clone_based_vega_gene ENSG00000257225 0 genome.wustl.edu 37 12 42853436 42853436 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 42853436 42853436 G C SNP ENSG00000257225 ENST00000547824 human ensembl 70_37 +1 known rna NULL NULL 0.342 - - - no_errors RP11-328C8.4 Clone_based_vega_gene ENSG00000258471 0 genome.wustl.edu 37 14 21464113 21464113 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 21464113 21464113 G A SNP ENSG00000258471 ENST00000557335 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258686 0 genome.wustl.edu 37 1 110597279 110597279 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 110597279 110597279 C T SNP ENSG00000258686 ENST00000473429 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors RP4-773N10.5 Clone_based_vega_gene ENSG00000259647 0 genome.wustl.edu 37 15 30297941 30297941 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 30297941 30297941 C T SNP ENSG00000259647 ENST00000561392 human ensembl 70_37 -1 known rna NULL NULL 0.662 - - - no_errors RP11-143J24.1 Clone_based_vega_gene ENSG00000262557 0 genome.wustl.edu 37 16 53525642 53525642 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 53525642 53525642 C T SNP ENSG00000262557 ENST00000571523 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-44F14.11 Clone_based_vega_gene ENSG00000264771 0 genome.wustl.edu 37 15 99797757 99797757 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 99797757 99797757 G A SNP ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.005 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000267892 0 genome.wustl.edu 37 19 39229399 39229399 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 39229399 39229399 G A SNP ENSG00000267892 ENST00000602255 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2540F13.2 Clone_based_vega_gene ENSG00000268713 0 genome.wustl.edu 37 19 57774067 57774067 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 57774067 57774067 G C SNP ENSG00000268713 ENST00000600047 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors CTC-444N24.8 Clone_based_vega_gene ENSG00000269583 0 genome.wustl.edu 37 19 44079728 44079728 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 44079728 44079728 G A SNP ENSG00000269583 ENST00000600242 human ensembl 70_37 +1 known rna NULL NULL 0.403 - - - no_errors L34079.4 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41523536 41523536 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 41523536 41523536 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.952 p.P318A 0.979 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP300 2033 genome.wustl.edu 37 22 41543930 41543930 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 41543930 41543930 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.2221 p.Q741* 0.990 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP300 2033 genome.wustl.edu 37 22 41574469 41574469 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 41574469 41574469 G T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.6754 p.E2252* 0.834 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPHA2 1969 genome.wustl.edu 37 1 16475146 16475146 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16475146 16475146 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.550 p.D184N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,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_cat_dom - no_errors EPHA2 HGNC EPHB1 2047 genome.wustl.edu 37 3 134670464 134670464 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 134670464 134670464 G T SNP EPHB1 ENST00000398015 human ensembl 70_37 +1 known missense c.375 p.K125N 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_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,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB1 HGNC EPRS 2058 genome.wustl.edu 37 1 220184323 220184323 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 220184323 220184323 G A SNP EPRS ENST00000366923 human ensembl 70_37 -1 known nonsense c.1570 p.Q524* 0.997 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Glu-tRNA-synth_Ib_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC EPS8L1 54869 genome.wustl.edu 37 19 55591881 55591881 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 55591881 55591881 G A SNP EPS8L1 ENST00000245618 human ensembl 70_37 +1 known missense c.20 p.R7K 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ERAP1 51752 genome.wustl.edu 37 5 96127859 96127859 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 96127859 96127859 C T SNP ERAP1 ENST00000296754 human ensembl 70_37 -1 known missense c.1225 p.E409K 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ERI3 79033 genome.wustl.edu 37 1 44818566 44818566 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 44818566 44818566 G A SNP ERI3 ENST00000372257 human ensembl 70_37 -1 known missense c.167 p.S56L 0.997 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ERP27 121506 genome.wustl.edu 37 12 15068496 15068496 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 15068496 15068496 G T SNP ERP27 ENST00000266397 human ensembl 70_37 -1 known missense c.701 p.T234K 0.035 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ESX1 80712 genome.wustl.edu 37 X 103499058 103499058 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 103499058 103499058 C G SNP ESX1 ENST00000372588 human ensembl 70_37 -1 known missense c.283 p.E95Q 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU - no_errors ESX1 HGNC ESYT2 57488 genome.wustl.edu 37 7 158560457 158560457 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 158560457 158560457 G A SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.956 p.S319L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC EXPH5 23086 genome.wustl.edu 37 11 108381912 108381912 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 108381912 108381912 C G SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.4322 p.R1441T 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC EYS 346007 genome.wustl.edu 37 6 64431370 64431370 + Missense_Mutation SNP T T G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 64431370 64431370 T G SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.8620 p.I2874L 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC EYS 346007 genome.wustl.edu 37 6 64940607 64940607 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 64940607 64940607 G A SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.6302 p.S2101F 0.029 pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC FAHD2B 151313 genome.wustl.edu 37 2 97747859 97747859 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 97747859 97747859 C T SNP FAHD2B ENST00000443258 human ensembl 70_37 -1 known rna NULL NULL 0.042 - - - no_errors FAHD2B HGNC FAM171A1 221061 genome.wustl.edu 37 10 15290720 15290720 + Silent SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 15290720 15290720 G T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known silent c.672 p.I224 0.996 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC FAM181A 90050 genome.wustl.edu 37 14 94391701 94391701 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 94391701 94391701 G A SNP FAM181A ENST00000267594 human ensembl 70_37 +1 known silent c.84 p.A28 0.003 NULL NULL - no_errors FAM181A HGNC FAM184B 27146 genome.wustl.edu 37 4 17654508 17654508 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 17654508 17654508 C T SNP FAM184B ENST00000265018 human ensembl 70_37 -1 known silent c.2136 p.R712 0.406 NULL NULL - no_errors FAM184B HGNC FAM186A 121006 genome.wustl.edu 37 12 50745808 50745808 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 50745808 50745808 G A SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known missense c.4807 p.L1603F 0.000 NULL NULL - no_errors FAM186A HGNC FAM209A 200232 genome.wustl.edu 37 20 55100944 55100944 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 55100944 55100944 G T SNP FAM209A ENST00000371328 human ensembl 70_37 +1 known missense c.334 p.A112S 0.001 NULL NULL - no_errors FAM209A HGNC FAM20B 9917 genome.wustl.edu 37 1 179033476 179033476 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 179033476 179033476 G A SNP FAM20B ENST00000263733 human ensembl 70_37 +1 known silent c.783 p.K261 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20B HGNC FAM71A 149647 genome.wustl.edu 37 1 212799758 212799758 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 212799758 212799758 G A SNP FAM71A ENST00000294829 human ensembl 70_37 +1 known nonsense c.1539 p.W513* 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC FAM83G 644815 genome.wustl.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 18907093 18907093 G A SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC FARP1 10160 genome.wustl.edu 37 13 98996094 98996094 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 98996094 98996094 G C SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known missense c.250 p.E84Q 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC FAT1 2195 genome.wustl.edu 37 4 187516863 187516863 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 187516863 187516863 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.13118 p.S4373F 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FAT2 2196 genome.wustl.edu 37 5 150928860 150928860 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 150928860 150928860 C T SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known silent c.4785 p.L1595 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT4 79633 genome.wustl.edu 37 4 126241223 126241223 + Silent SNP A A T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 126241223 126241223 A T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.3657 p.I1219 0.995 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBLIM1 54751 genome.wustl.edu 37 1 16111165 16111165 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16111165 16111165 G A SNP FBLIM1 ENST00000514156 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FBLIM1 HGNC FBRS 64319 genome.wustl.edu 37 16 30674116 30674116 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30674116 30674116 C T SNP FBRS ENST00000356166 human ensembl 70_37 +1 known missense c.991 p.R331W 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC FBXO25 26260 genome.wustl.edu 37 8 363141 363141 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 363141 363141 G T SNP FBXO25 ENST00000276326 human ensembl 70_37 +1 known missense c.62 p.G21V 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC FCGBP 8857 genome.wustl.edu 37 19 40421422 40421422 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 40421422 40421422 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.2499 p.V833 0.585 smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCRL4 83417 genome.wustl.edu 37 1 157551335 157551335 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 157551335 157551335 C T SNP FCRL4 ENST00000271532 human ensembl 70_37 -1 known missense c.1235 p.R412H 0.000 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL4 HGNC FHAD1 114827 genome.wustl.edu 37 1 15627738 15627738 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 15627738 15627738 G A SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.716 p.R239H 0.993 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FHDC1 85462 genome.wustl.edu 37 4 153893649 153893649 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 153893649 153893649 C G SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.1339 p.Q447E 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FHDC1 85462 genome.wustl.edu 37 4 153893681 153893681 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 153893681 153893681 C G SNP FHDC1 ENST00000260008 human ensembl 70_37 +1 known missense c.1371 p.N457K 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHDC1 HGNC FIGN 55137 genome.wustl.edu 37 2 164468163 164468163 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 164468163 164468163 G A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known missense c.179 p.S60F 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors FIGN HGNC FITM1 161247 genome.wustl.edu 37 14 24601589 24601589 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24601589 24601589 G A SNP FITM1 ENST00000267426 human ensembl 70_37 +1 known missense c.436 p.E146K 1.000 pfam_FIT pfam_FIT - no_errors FITM1 HGNC FKBP10 60681 genome.wustl.edu 37 17 39977282 39977282 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 39977282 39977282 G A SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.1340 p.C447Y 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC FLG 2312 genome.wustl.edu 37 1 152281157 152281157 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 152281157 152281157 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known nonsense c.6205 p.Q2069* 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG2 388698 genome.wustl.edu 37 1 152327647 152327647 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 152327647 152327647 C G SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.2615 p.G872A 0.024 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLJ26850 400710 genome.wustl.edu 37 19 50553866 50553866 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50553866 50553866 C G SNP FLJ26850 ENST00000527209 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene FLJ45256 0 genome.wustl.edu 37 16 24674572 24674572 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 24674572 24674572 G A SNP FLJ45256 ENST00000414816 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153590890 153590890 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 153590890 153590890 C T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.2461 p.D821N 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FLNB 2317 genome.wustl.edu 37 3 58135868 58135868 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 58135868 58135868 G A SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.6281 p.R2094K 1.000 superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC FMN2 56776 genome.wustl.edu 37 1 240256841 240256841 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 240256841 240256841 G A SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.1432 p.G478S 0.996 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FOCAD 54914 genome.wustl.edu 37 9 20929372 20929372 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 20929372 20929372 G A SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.3094 p.E1032K 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC FREM1 158326 genome.wustl.edu 37 9 14859349 14859349 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 14859349 14859349 C T SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.463 p.D155N 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC FRG1 2483 genome.wustl.edu 37 4 190882046 190882046 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 190882046 190882046 C T SNP FRG1 ENST00000514482 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors FRG1 HGNC FRMPD3 84443 genome.wustl.edu 37 X 106788902 106788902 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 106788902 106788902 G A SNP FRMPD3 ENST00000477796 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FRMPD3 HGNC GAA 2548 genome.wustl.edu 37 17 78086747 78086747 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 78086747 78086747 C T SNP GAA ENST00000302262 human ensembl 70_37 +1 known missense c.1961 p.S654L 0.003 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC GCC2 9648 genome.wustl.edu 37 2 109109062 109109062 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 109109062 109109062 G A SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.4263 p.M1421I 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GCFC2 6936 genome.wustl.edu 37 2 75891851 75891851 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 75891851 75891851 C T SNP GCFC2 ENST00000321027 human ensembl 70_37 -1 known missense c.2287 p.E763K 1.000 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC GCNT2 2651 genome.wustl.edu 37 6 10556959 10556959 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 10556959 10556959 C G SNP GCNT2 ENST00000316170 human ensembl 70_37 +1 known missense c.303 p.I101M 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC GDF5OS 554250 genome.wustl.edu 37 20 34022687 34022687 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 34022687 34022687 C G SNP GDF5OS ENST00000374375 human ensembl 70_37 +1 known missense c.731 p.S244C 0.961 NULL NULL - no_errors GDF5OS HGNC GEMIN8 54960 genome.wustl.edu 37 X 14027161 14027161 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 14027161 14027161 C T SNP GEMIN8 ENST00000380523 human ensembl 70_37 -1 known silent c.600 p.E200 1.000 NULL NULL - no_errors GEMIN8 HGNC GGT7 2686 genome.wustl.edu 37 20 33460525 33460525 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 33460525 33460525 C T SNP GGT7 ENST00000336431 human ensembl 70_37 -1 novel missense c.94 p.E32K 1.000 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC GGTA1P 2681 genome.wustl.edu 37 9 124241356 124241356 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 124241356 124241356 G A SNP GGTA1P ENST00000373793 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors GGTA1P HGNC GHR 2690 genome.wustl.edu 37 5 42718806 42718806 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 42718806 42718806 C T SNP GHR ENST00000230882 human ensembl 70_37 +1 known silent c.1197 p.F399 0.995 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC GHR 2690 genome.wustl.edu 37 5 42719029 42719029 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 42719029 42719029 C T SNP GHR ENST00000230882 human ensembl 70_37 +1 known nonsense c.1420 p.Q474* 0.988 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC GIF 2694 genome.wustl.edu 37 11 59611401 59611401 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 59611401 59611401 C T SNP GIF ENST00000257248 human ensembl 70_37 -1 known silent c.207 p.L69 0.563 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC GLA 2717 genome.wustl.edu 37 X 100662883 100662883 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 100662883 100662883 C T SNP GLA ENST00000218516 human ensembl 70_37 -1 known silent c.9 p.L3 0.000 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC GLT8D2 83468 genome.wustl.edu 37 12 104393268 104393268 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 104393268 104393268 C G SNP GLT8D2 ENST00000360814 human ensembl 70_37 -1 known silent c.309 p.L103 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC GMEB1 10691 genome.wustl.edu 37 1 29040885 29040885 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 29040885 29040885 C T SNP GMEB1 ENST00000294409 human ensembl 70_37 +1 known missense c.1322 p.S441F 1.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC GMNN 51053 genome.wustl.edu 37 6 24781754 24781754 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 24781754 24781754 C G SNP GMNN ENST00000230056 human ensembl 70_37 +1 known missense c.179 p.S60C 0.397 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC GNAT2 2780 genome.wustl.edu 37 1 110149024 110149024 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 110149024 110149024 C G SNP GNAT2 ENST00000351050 human ensembl 70_37 -1 known missense c.496 p.E166Q 0.215 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC GNPAT 8443 genome.wustl.edu 37 1 231408083 231408083 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 231408083 231408083 C T SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known silent c.1548 p.F516 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC GOLGA1 2800 genome.wustl.edu 37 9 127642418 127642418 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 127642418 127642418 C G SNP GOLGA1 ENST00000475407 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GOLGA1 HGNC GOLGA2P5 55592 genome.wustl.edu 37 12 100562865 100562865 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 100562865 100562865 C T SNP GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.385 - - - no_errors GOLGA2B Clone_based_vega_gene GON4L 54856 genome.wustl.edu 37 1 155735213 155735213 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155735213 155735213 C G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4051 p.E1351Q 0.879 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155735229 155735229 + Silent SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155735229 155735229 A G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.4035 p.C1345 0.005 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155735273 155735273 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155735273 155735273 C G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.3991 p.E1331Q 0.372 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GPR101 83550 genome.wustl.edu 37 X 136113007 136113007 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 136113007 136113007 C G SNP GPR101 ENST00000298110 human ensembl 70_37 -1 known missense c.827 p.R276T 0.966 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC GPR114 221188 genome.wustl.edu 37 16 57604363 57604363 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57604363 57604363 C G SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known missense c.1124 p.S375C 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC GPR142 350383 genome.wustl.edu 37 17 72368270 72368270 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 72368270 72368270 G C SNP GPR142 ENST00000335666 human ensembl 70_37 +1 known missense c.920 p.R307T 0.841 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC GPR142 350383 genome.wustl.edu 37 17 72368289 72368289 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 72368289 72368289 C G SNP GPR142 ENST00000335666 human ensembl 70_37 +1 known silent c.939 p.L313 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC GPRASP1 9737 genome.wustl.edu 37 X 101909941 101909941 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101909941 101909941 C T SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.1100 p.S367L 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC GRHL2 79977 genome.wustl.edu 37 8 102570802 102570802 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 102570802 102570802 C T SNP GRHL2 ENST00000251808 human ensembl 70_37 +1 known missense c.440 p.S147F 0.803 NULL pfam_CP2 - no_errors GRHL2 HGNC GRIA2 2891 genome.wustl.edu 37 4 158257849 158257849 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 158257849 158257849 C T SNP GRIA2 ENST00000264426 human ensembl 70_37 +1 known silent c.1794 p.L598 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC GRID1 2894 genome.wustl.edu 37 10 87898609 87898609 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 87898609 87898609 G A SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known silent c.693 p.L231 0.928 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27481442 27481442 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27481442 27481442 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.4801 p.E1601K 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GUCY1B3 2983 genome.wustl.edu 37 4 156724850 156724850 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 156724850 156724850 C T SNP GUCY1B3 ENST00000264424 human ensembl 70_37 +1 known silent c.1488 p.I496 0.986 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC GUCY2C 2984 genome.wustl.edu 37 12 14794077 14794077 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 14794077 14794077 G A SNP GUCY2C ENST00000261170 human ensembl 70_37 -1 known silent c.2007 p.I669 0.521 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC HARBI1 283254 genome.wustl.edu 37 11 46637691 46637691 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46637691 46637691 C T SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.97 p.E33K 1.000 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC HARBI1 283254 genome.wustl.edu 37 11 46637694 46637694 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46637694 46637694 C T SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.94 p.D32N 1.000 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC HARBI1 283254 genome.wustl.edu 37 11 46637703 46637703 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 46637703 46637703 C T SNP HARBI1 ENST00000326737 human ensembl 70_37 -1 known missense c.85 p.D29N 0.998 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC HCAR3 8843 genome.wustl.edu 37 12 123200213 123200213 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 123200213 123200213 G C SNP HCAR3 ENST00000528880 human ensembl 70_37 -1 known missense c.1072 p.L358V 0.031 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR3 HGNC HCFC1 3054 genome.wustl.edu 37 X 153215957 153215957 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 153215957 153215957 G A SNP HCFC1 ENST00000310441 human ensembl 70_37 -1 known missense c.5741 p.S1914F 0.995 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC HDGF 3068 genome.wustl.edu 37 1 156712542 156712542 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156712542 156712542 C T SNP HDGF ENST00000465180 human ensembl 70_37 -1 known rna NULL NULL 0.184 - - - no_errors HDGF HGNC HECTD1 25831 genome.wustl.edu 37 14 31644182 31644182 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 31644182 31644182 G C SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.538 p.Q180E 1.000 superfamily_ARM-type_fold 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 HECTD1 25831 genome.wustl.edu 37 14 31644208 31644208 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 31644208 31644208 G A SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.512 p.S171L 1.000 superfamily_ARM-type_fold 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 HECW1 23072 genome.wustl.edu 37 7 43484406 43484406 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 43484406 43484406 G A SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known silent c.1635 p.V545 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HELZ2 85441 genome.wustl.edu 37 20 62202569 62202569 + RNA SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 62202569 62202569 A C SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors HELZ2 HGNC HERC2 8924 genome.wustl.edu 37 15 28510988 28510988 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 28510988 28510988 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.1731 p.R577 0.430 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HGS 9146 genome.wustl.edu 37 17 79667754 79667754 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79667754 79667754 C T SNP HGS ENST00000329138 human ensembl 70_37 +1 known silent c.2046 p.L682 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC HIST1H2BM 8342 genome.wustl.edu 37 6 27783096 27783096 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 27783096 27783096 C T SNP HIST1H2BM ENST00000359465 human ensembl 70_37 +1 known missense c.275 p.S92L 0.989 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BM HGNC HIST2H2AB 317772 genome.wustl.edu 37 1 149859407 149859407 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 149859407 149859407 G A SNP HIST2H2AB ENST00000331128 human ensembl 70_37 -1 known silent c.60 p.S20 0.975 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC HLA-A 3105 genome.wustl.edu 37 6 29912276 29912276 + Splice_Site SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 29912276 29912276 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known splice_site c.896-1 e5-1 0.908 - - - no_errors HLA-A HGNC HLA-B 3106 genome.wustl.edu 37 6 31324681 31324681 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 31324681 31324681 C A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.127 p.E43* 0.989 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,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC HLA-DQA1 3117 genome.wustl.edu 37 6 32609155 32609155 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 32609155 32609155 G C SNP HLA-DQA1 ENST00000343139 human ensembl 70_37 +1 known missense c.151 p.E51Q 0.980 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA1 HGNC HLA-F 3134 genome.wustl.edu 37 6 29694151 29694151 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 29694151 29694151 G A SNP HLA-F ENST00000484704 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors HLA-F HGNC HLX 3142 genome.wustl.edu 37 1 221057537 221057537 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 221057537 221057537 G A SNP HLX ENST00000366903 human ensembl 70_37 +1 known missense c.958 p.V320M 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC HMGA1 3159 genome.wustl.edu 37 6 34208659 34208659 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 34208659 34208659 G A SNP HMGA1 ENST00000395004 human ensembl 70_37 +1 known silent c.102 p.P34 1.000 NULL prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA1 HGNC HMGXB4 10042 genome.wustl.edu 37 22 35659852 35659852 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 35659852 35659852 G A SNP HMGXB4 ENST00000216106 human ensembl 70_37 +1 known missense c.244 p.D82N 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC HOXA7 3204 genome.wustl.edu 37 7 27196076 27196076 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 27196076 27196076 G A SNP HOXA7 ENST00000242159 human ensembl 70_37 -1 known missense c.89 p.S30F 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC HOXB2 3212 genome.wustl.edu 37 17 46622224 46622224 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 46622224 46622224 G A SNP HOXB2 ENST00000330070 human ensembl 70_37 -1 known missense c.50 p.S17L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB2 HGNC HOXD3 3232 genome.wustl.edu 37 2 177033965 177033965 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 177033965 177033965 C T SNP HOXD3 ENST00000249440 human ensembl 70_37 +1 known silent c.123 p.Y41 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD3 HGNC HPGD 3248 genome.wustl.edu 37 4 175413139 175413139 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 175413139 175413139 C G SNP HPGD ENST00000296522 human ensembl 70_37 -1 known missense c.769 p.D257H 0.998 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC HPR 3250 genome.wustl.edu 37 16 72110819 72110819 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 72110819 72110819 G A SNP HPR ENST00000228226 human ensembl 70_37 +1 known missense c.997 p.D333N 0.999 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPR HGNC HRH3 11255 genome.wustl.edu 37 20 60790436 60790436 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 60790436 60790436 C T SNP HRH3 ENST00000317393 human ensembl 70_37 -1 known silent c.1361 p.*454 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC HRH3 11255 genome.wustl.edu 37 20 60791269 60791269 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 60791269 60791269 C G SNP HRH3 ENST00000317393 human ensembl 70_37 -1 known silent c.1131 p.L377 0.108 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC HSD3B7 80270 genome.wustl.edu 37 16 30999441 30999441 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30999441 30999441 G A SNP HSD3B7 ENST00000297679 human ensembl 70_37 +1 known silent c.1047 p.S349 0.851 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC HSPA12A 259217 genome.wustl.edu 37 10 118434523 118434523 + Silent SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 118434523 118434523 G T SNP HSPA12A ENST00000369209 human ensembl 70_37 -1 known silent c.1797 p.V599 1.000 NULL NULL - no_errors HSPA12A HGNC HSPA12A 259217 genome.wustl.edu 37 10 118434551 118434551 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 118434551 118434551 G A SNP HSPA12A ENST00000369209 human ensembl 70_37 -1 known missense c.1769 p.P590L 0.996 NULL NULL - no_errors HSPA12A HGNC HSPB7 27129 genome.wustl.edu 37 1 16345659 16345659 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16345659 16345659 G A SNP HSPB7 ENST00000375718 human ensembl 70_37 -1 novel silent c.306 p.L102 0.000 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC HTR6 3362 genome.wustl.edu 37 1 20005617 20005617 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 20005617 20005617 C T SNP HTR6 ENST00000289753 human ensembl 70_37 +1 known missense c.1079 p.P360L 0.968 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC HYAL4 23553 genome.wustl.edu 37 7 123514826 123514826 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 123514826 123514826 C T SNP HYAL4 ENST00000223026 human ensembl 70_37 +1 known silent c.966 p.V322 1.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20 - no_errors HYAL4 HGNC ICA1 3382 genome.wustl.edu 37 7 8181633 8181633 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 8181633 8181633 G T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known missense c.955 p.L319I 0.001 NULL pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ICAM1 3383 genome.wustl.edu 37 19 10394332 10394332 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 10394332 10394332 C T SNP ICAM1 ENST00000264832 human ensembl 70_37 +1 known silent c.507 p.V169 0.053 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC IFT122 55764 genome.wustl.edu 37 3 129200465 129200465 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 129200465 129200465 G C SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known missense c.1734 p.K578N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC IFT172 26160 genome.wustl.edu 37 2 27684268 27684268 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 27684268 27684268 G A SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known silent c.2310 p.I770 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47074977 47074977 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 47074977 47074977 C T SNP IGF2BP1 ENST00000510023 human ensembl 70_37 +1 putative rna NULL NULL 0.661 - - - no_errors IGF2BP1 HGNC IGSF11 152404 genome.wustl.edu 37 3 118621521 118621521 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 118621521 118621521 G A SNP IGSF11 ENST00000393775 human ensembl 70_37 -1 known missense c.1142 p.S381L 0.515 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF11 HGNC IL36A 27179 genome.wustl.edu 37 2 113763630 113763630 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 113763630 113763630 C T SNP IL36A ENST00000259211 human ensembl 70_37 +1 known silent c.90 p.L30 0.004 superfamily_Cytokine_IL1-like,smart_Interleukin_1 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_InterleukinIL1AB,prints_InterleukinIL1B - no_errors IL36A HGNC IL4I1 259307 genome.wustl.edu 37 19 50399241 50399241 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50399241 50399241 C T SNP IL4I1 ENST00000341114 human ensembl 70_37 -1 known missense c.149 p.R50H 0.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC INPP4B 8821 genome.wustl.edu 37 4 143181669 143181669 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 143181669 143181669 C G SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known missense c.664 p.D222H 0.996 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC INSIG2 51141 genome.wustl.edu 37 2 118864263 118864263 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 118864263 118864263 G A SNP INSIG2 ENST00000479999 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INSIG2 HGNC IPP 3652 genome.wustl.edu 37 1 46211870 46211870 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 46211870 46211870 C T SNP IPP ENST00000396478 human ensembl 70_37 -1 known missense c.214 p.E72K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC IQGAP2 10788 genome.wustl.edu 37 5 75757463 75757463 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 75757463 75757463 G A SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known missense c.115 p.E39K 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC IREB2 3658 genome.wustl.edu 37 15 78783062 78783062 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 78783062 78783062 C G SNP IREB2 ENST00000258886 human ensembl 70_37 +1 known missense c.2283 p.I761M 0.300 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC IRF2BPL 64207 genome.wustl.edu 37 14 77492957 77492957 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 77492957 77492957 C T SNP IRF2BPL ENST00000238647 human ensembl 70_37 -1 known silent c.1179 p.K393 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ISG20L2 81875 genome.wustl.edu 37 1 156697518 156697518 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 156697518 156697518 C G SNP ISG20L2 ENST00000469074 human ensembl 70_37 -1 known rna NULL NULL 0.348 - - - no_errors ISG20L2 HGNC ITGA9 3680 genome.wustl.edu 37 3 37785523 37785523 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 37785523 37785523 C T SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known nonsense c.2431 p.Q811* 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ITGAM 3684 genome.wustl.edu 37 16 31336831 31336831 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31336831 31336831 C T SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known missense c.2519 p.S840L 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ITGB1BP2 26548 genome.wustl.edu 37 X 70524984 70524984 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70524984 70524984 C T SNP ITGB1BP2 ENST00000373829 human ensembl 70_37 +1 known missense c.986 p.S329L 1.000 NULL pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors ITGB1BP2 HGNC ITPR1 3708 genome.wustl.edu 37 3 4776957 4776957 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 4776957 4776957 G A SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.5418 p.M1806I 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 ITPR1 3708 genome.wustl.edu 37 3 4887837 4887837 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 4887837 4887837 G C SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.8160 p.R2720S 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 JARID2 3720 genome.wustl.edu 37 6 15496858 15496858 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 15496858 15496858 G A SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.1402 p.E468K 0.891 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC JMY 133746 genome.wustl.edu 37 5 78586979 78586979 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 78586979 78586979 C T SNP JMY ENST00000396137 human ensembl 70_37 +1 known nonsense c.1384 p.Q462* 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC JUND 3727 genome.wustl.edu 37 19 18391875 18391875 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 18391875 18391875 G T SNP JUND ENST00000252818 human ensembl 70_37 -1 known missense c.420 p.F140L 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC JUND 3727 genome.wustl.edu 37 19 18391926 18391926 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 18391926 18391926 G A SNP JUND ENST00000252818 human ensembl 70_37 -1 known silent c.369 p.F123 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC KCNA2 3737 genome.wustl.edu 37 1 111147002 111147002 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 111147002 111147002 C T SNP KCNA2 ENST00000316361 human ensembl 70_37 -1 known missense c.403 p.E135K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC KCNF1 3754 genome.wustl.edu 37 2 11053024 11053024 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 11053024 11053024 G A SNP KCNF1 ENST00000295082 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC KCNH4 23415 genome.wustl.edu 37 17 40317508 40317508 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 40317508 40317508 G C SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.2044 p.R682G 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC KCNIP2 30819 genome.wustl.edu 37 10 103586855 103586855 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 103586855 103586855 C G SNP KCNIP2 ENST00000355657 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNIP2 HGNC KDM5C 8242 genome.wustl.edu 37 X 53223512 53223512 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 53223512 53223512 C T SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known missense c.3847 p.E1283K 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC KIAA0226 9711 genome.wustl.edu 37 3 197426070 197426070 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197426070 197426070 C T SNP KIAA0226 ENST00000273582 human ensembl 70_37 -1 putative missense c.1114 p.D372N 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC KIAA0226L 80183 genome.wustl.edu 37 13 46942916 46942916 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 46942916 46942916 C G SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known silent c.570 p.S190 0.985 NULL NULL - no_errors KIAA0226L HGNC KIAA0556 23247 genome.wustl.edu 37 16 27751796 27751796 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 27751796 27751796 C T SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known silent c.2178 p.V726 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KIAA0907 22889 genome.wustl.edu 37 1 155899505 155899505 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155899505 155899505 C A SNP KIAA0907 ENST00000368321 human ensembl 70_37 -1 known nonsense c.382 p.E128* 1.000 NULL NULL - no_errors KIAA0907 HGNC KIAA0907 22889 genome.wustl.edu 37 1 155899522 155899522 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155899522 155899522 C A SNP KIAA0907 ENST00000368321 human ensembl 70_37 -1 known missense c.365 p.R122L 1.000 NULL NULL - no_errors KIAA0907 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5464406 5464406 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 5464406 5464406 G A SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known silent c.4959 p.L1653 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1033 23325 genome.wustl.edu 37 12 105520052 105520052 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 105520052 105520052 G A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.950 p.G317E 1.000 NULL NULL - no_errors KIAA1033 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30315291 30315291 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 30315291 30315291 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.3786 p.M1262I 1.000 NULL NULL - no_errors KIAA1462 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30316406 30316406 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 30316406 30316406 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.2671 p.E891K 0.001 NULL NULL - no_errors KIAA1462 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30316418 30316418 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 30316418 30316418 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.2659 p.E887K 0.006 NULL NULL - no_errors KIAA1462 HGNC KIAA1549L 25758 genome.wustl.edu 37 11 33583270 33583270 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 33583270 33583270 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known nonsense c.3194 p.W1065* 1.000 NULL NULL - no_errors KIAA1549L HGNC KIAA1755 85449 genome.wustl.edu 37 20 36856603 36856603 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 36856603 36856603 G A SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known silent c.1911 p.D637 0.987 superfamily_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC KIF11 3832 genome.wustl.edu 37 10 94368777 94368777 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 94368777 94368777 G C SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.388 p.D130H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC KIF1A 547 genome.wustl.edu 37 2 241696839 241696839 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 241696839 241696839 C T SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.2755 p.E919K 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KIF1B 23095 genome.wustl.edu 37 1 10328298 10328298 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 10328298 10328298 G A SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.697 p.E233K 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF3B 9371 genome.wustl.edu 37 20 30918001 30918001 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 30918001 30918001 G A SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.2026 p.E676K 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC KIF4B 285643 genome.wustl.edu 37 5 154396407 154396407 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 154396407 154396407 C T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known silent c.2988 p.L996 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC KLC3 147700 genome.wustl.edu 37 19 45849946 45849946 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 45849946 45849946 G C SNP KLC3 ENST00000470402 human ensembl 70_37 +1 known missense c.445 p.E149Q 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC KLF8 11279 genome.wustl.edu 37 X 56292146 56292146 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 56292146 56292146 C T SNP KLF8 ENST00000468660 human ensembl 70_37 +1 known silent c.615 p.L205 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC KLHL38 340359 genome.wustl.edu 37 8 124664078 124664078 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 124664078 124664078 C G SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known missense c.1089 p.W363C 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC KLHL5 51088 genome.wustl.edu 37 4 39077739 39077739 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 39077739 39077739 G A SNP KLHL5 ENST00000359687 human ensembl 70_37 +1 known missense c.676 p.A226T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC KLHL5 51088 genome.wustl.edu 37 4 39104955 39104955 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 39104955 39104955 C T SNP KLHL5 ENST00000359687 human ensembl 70_37 +1 known missense c.1487 p.P496L 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC KNG1 3827 genome.wustl.edu 37 3 186456902 186456902 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 186456902 186456902 G A SNP KNG1 ENST00000265023 human ensembl 70_37 +1 known silent c.945 p.K315 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC KREMEN1 83999 genome.wustl.edu 37 22 29536304 29536304 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 29536304 29536304 C T SNP KREMEN1 ENST00000327813 human ensembl 70_37 +1 known silent c.1209 p.I403 1.000 pirsf_Kremen pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC KRT121P 85349 genome.wustl.edu 37 12 52647456 52647456 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 52647456 52647456 C T SNP KRT121P ENST00000529785 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC KRT75 9119 genome.wustl.edu 37 12 52825340 52825340 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 52825340 52825340 G T SNP KRT75 ENST00000252245 human ensembl 70_37 -1 known nonsense c.857 p.S286* 0.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC KRTAP10-8 386681 genome.wustl.edu 37 21 46032136 46032136 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 46032136 46032136 C T SNP KRTAP10-8 ENST00000334662 human ensembl 70_37 +1 known missense c.119 p.S40F 0.999 pfam_PMG pfam_PMG - no_errors KRTAP10-8 HGNC KTI12 112970 genome.wustl.edu 37 1 52499064 52499064 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 52499064 52499064 C T SNP KTI12 ENST00000371614 human ensembl 70_37 -1 known missense c.370 p.E124K 0.001 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12 - no_errors KTI12 HGNC LAMB2 3913 genome.wustl.edu 37 3 49161197 49161197 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49161197 49161197 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.3761 p.S1254F 0.935 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49162313 49162313 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49162313 49162313 G C SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known nonsense c.2930 p.S977* 0.003 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49162772 49162772 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49162772 49162772 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.2634 p.V878 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49163434 49163434 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49163434 49163434 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.2310 p.I770 0.998 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49166205 49166205 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49166205 49166205 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.1779 p.S593 0.418 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49166206 49166206 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49166206 49166206 G T SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.1778 p.S593Y 0.513 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB3 3914 genome.wustl.edu 37 1 209799070 209799070 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 209799070 209799070 C T SNP LAMB3 ENST00000356082 human ensembl 70_37 -1 known silent c.1899 p.Q633 0.855 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC LAMC2 3918 genome.wustl.edu 37 1 183206490 183206490 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 183206490 183206490 G T SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known nonsense c.2605 p.E869* 0.617 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC LAMC2 3918 genome.wustl.edu 37 1 183206632 183206632 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 183206632 183206632 G A SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known missense c.2747 p.G916E 0.036 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC LAMC2 3918 genome.wustl.edu 37 1 183206633 183206633 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 183206633 183206633 G A SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known silent c.2748 p.G916 0.332 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC LDHD 197257 genome.wustl.edu 37 16 75148453 75148453 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 75148453 75148453 C T SNP LDHD ENST00000300051 human ensembl 70_37 -1 known silent c.600 p.L200 0.942 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC LEFTY2 7044 genome.wustl.edu 37 1 226125178 226125178 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 226125178 226125178 G A SNP LEFTY2 ENST00000366820 human ensembl 70_37 -1 known missense c.1064 p.S355L 0.994 pirsf_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC LEKR1 389170 genome.wustl.edu 37 3 156697069 156697069 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 156697069 156697069 G A SNP LEKR1 ENST00000489350 human ensembl 70_37 +1 known rna NULL NULL 0.988 - - - no_errors LEKR1 Uniprot_genename LIMD1 8994 genome.wustl.edu 37 3 45637450 45637450 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 45637450 45637450 C T SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known missense c.1079 p.S360L 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC LIME1 54923 genome.wustl.edu 37 20 62370085 62370085 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 62370085 62370085 C G SNP LIME1 ENST00000309546 human ensembl 70_37 +1 known silent c.720 p.L240 0.003 NULL NULL - no_errors LIME1 HGNC LINC00514 283875 genome.wustl.edu 37 16 3040221 3040221 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3040221 3040221 C T SNP LINC00514 ENST00000571152 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00514 HGNC LINS 55180 genome.wustl.edu 37 15 101121020 101121020 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 101121020 101121020 C T SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.28 p.E10K 0.759 NULL NULL - no_errors LINS HGNC LIPI 149998 genome.wustl.edu 37 21 15517001 15517001 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 15517001 15517001 G A SNP LIPI ENST00000344577 human ensembl 70_37 -1 known missense c.1301 p.S434F 0.009 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC LIPM 340654 genome.wustl.edu 37 10 90562694 90562694 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 90562694 90562694 G A SNP LIPM ENST00000404743 human ensembl 70_37 +1 known missense c.41 p.R14K 0.976 NULL pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPM HGNC LMLN 89782 genome.wustl.edu 37 3 197701344 197701344 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197701344 197701344 G C SNP LMLN ENST00000330198 human ensembl 70_37 +1 known missense c.316 p.E106Q 0.997 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC LMO1 4004 genome.wustl.edu 37 11 8251899 8251899 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 8251899 8251899 C T SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known missense c.178 p.E60K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC LMO7 4008 genome.wustl.edu 37 13 76195958 76195958 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 76195958 76195958 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.129 p.I43M 0.000 superfamily_CH-domain pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC LMTK2 22853 genome.wustl.edu 37 7 97820151 97820151 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 97820151 97820151 C T SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known silent c.1110 p.L370 0.998 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC LOC100128340 100128340 genome.wustl.edu 37 5 177310846 177310846 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 177310846 177310846 G A SNP LOC100128340 ENST00000506672 human ensembl 70_37 +1 known rna NULL NULL 0.672 - - - no_errors RP11-423H2.1 Clone_based_vega_gene LOC100128770 100128770 genome.wustl.edu 37 16 3086057 3086057 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3086057 3086057 C T SNP LOC100128770 ENST00000382225 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-473M20.5 Clone_based_vega_gene LOC100128946 100128946 genome.wustl.edu 37 22 49290785 49290785 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 49290785 49290785 G A SNP LOC100128946 ENST00000380981 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors WI2-81516E3.1 Clone_based_vega_gene LOC100133267 100133267 genome.wustl.edu 37 8 11929234 11929234 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 11929234 11929234 G A SNP LOC100133267 ENST00000437818 human ensembl 70_37 -1 putative missense c.23 p.S8F 0.559 NULL pfam_Defensin_beta-typ - no_errors DEFB130 Uniprot_genename LOC100287792 100287792 genome.wustl.edu 37 20 36306407 36306407 + RNA SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 36306407 36306407 G T SNP LOC100287792 ENST00000373508 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP4-640H8.2 Clone_based_vega_gene LOC100288332 100288332 genome.wustl.edu 37 16 15474827 15474827 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 15474827 15474827 C T SNP LOC100288332 ENST00000534094 human ensembl 70_37 -1 novel silent c.78 p.Q26 0.967 NULL pfam_NPIP - no_errors PKD1P1 Uniprot_genename LOC100507034 100507034 genome.wustl.edu 37 10 3190278 3190278 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 3190278 3190278 G C SNP LOC100507034 ENST00000430356 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-298E9.3 Clone_based_vega_gene LOC101060360 101060360 genome.wustl.edu 37 16 11542909 11542909 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 11542909 11542909 C G SNP LOC101060360 ENST00000344649 human ensembl 70_37 -1 known missense c.1087 p.E363Q 0.050 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene LOC220729 220729 genome.wustl.edu 37 3 197349125 197349125 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 197349125 197349125 G A SNP LOC220729 ENST00000414207 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC024560.3 Clone_based_vega_gene LOC644554 644554 genome.wustl.edu 37 19 38314525 38314525 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 38314525 38314525 G C SNP LOC644554 ENST00000587248 human ensembl 70_37 +1 known rna NULL NULL 0.053 - - - no_errors CTD-2554C21.2 Clone_based_vega_gene LOC729461 729461 genome.wustl.edu 37 22 20640653 20640653 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 20640653 20640653 C T SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.959 - - - no_errors AC011718.2 Clone_based_vega_gene LPO 4025 genome.wustl.edu 37 17 56343535 56343535 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 56343535 56343535 G A SNP LPO ENST00000262290 human ensembl 70_37 +1 known missense c.1541 p.R514Q 0.789 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC LRIT2 340745 genome.wustl.edu 37 10 85984450 85984450 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 85984450 85984450 G T SNP LRIT2 ENST00000538192 human ensembl 70_37 -1 known nonsense c.531 p.Y177* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC LRP2 4036 genome.wustl.edu 37 2 170127601 170127601 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 170127601 170127601 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.2133 p.L711 0.997 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRR1 122769 genome.wustl.edu 37 14 50074299 50074299 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 50074299 50074299 C G SNP LRR1 ENST00000298288 human ensembl 70_37 +1 known missense c.464 p.S155C 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC LRRC37A6P 387646 genome.wustl.edu 37 10 27539146 27539146 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 27539146 27539146 G A SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC37A6P HGNC LRRC48 83450 genome.wustl.edu 37 17 17896144 17896144 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 17896144 17896144 G A SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known silent c.510 p.E170 0.246 NULL NULL - no_errors LRRC48 HGNC LRRC48 83450 genome.wustl.edu 37 17 17896148 17896148 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 17896148 17896148 G A SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known missense c.514 p.E172K 0.997 NULL NULL - no_errors LRRC48 HGNC LRRC4B 94030 genome.wustl.edu 37 19 51021572 51021572 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 51021572 51021572 G A SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.1398 p.S466 0.016 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC LRRC8E 80131 genome.wustl.edu 37 19 7964444 7964444 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 7964444 7964444 C T SNP LRRC8E ENST00000306708 human ensembl 70_37 +1 known missense c.1037 p.S346F 0.070 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC LRRK2 120892 genome.wustl.edu 37 12 40715870 40715870 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 40715870 40715870 G A SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.5204 p.R1735Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC LTV1 84946 genome.wustl.edu 37 6 144184640 144184640 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 144184640 144184640 G A SNP LTV1 ENST00000367576 human ensembl 70_37 +1 known silent c.1404 p.K468 0.732 NULL pfam_LTV - no_errors LTV1 HGNC LUC7L 55692 genome.wustl.edu 37 16 242962 242962 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 242962 242962 C G SNP LUC7L ENST00000293872 human ensembl 70_37 -1 known missense c.740 p.R247T 1.000 pfam_LUC7-rel pfam_LUC7-rel - no_errors LUC7L HGNC LYPD6 130574 genome.wustl.edu 37 2 150320678 150320678 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 150320678 150320678 G C SNP LYPD6 ENST00000392854 human ensembl 70_37 +1 known missense c.218 p.G73A 0.020 NULL NULL - no_errors LYPD6 HGNC MAB21L1 4081 genome.wustl.edu 37 13 36050078 36050078 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 36050078 36050078 G A SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known silent c.198 p.L66 0.906 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC MACF1 23499 genome.wustl.edu 37 1 39893651 39893651 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 39893651 39893651 G A SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.10309 p.E3437K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAML2 84441 genome.wustl.edu 37 11 95718733 95718733 + Frame_Shift_Del DEL C C - TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 95718733 95718733 C - DEL MAML2 ENST00000440572 human ensembl 70_37 -1 known frame_shift_del c.2417 p.R806fs 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC MAOB 4129 genome.wustl.edu 37 X 43654997 43654997 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 43654997 43654997 C G SNP MAOB ENST00000378069 human ensembl 70_37 -1 known missense c.757 p.E253Q 0.996 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC MAP2K4 6416 genome.wustl.edu 37 17 11984676 11984676 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 11984676 11984676 G A SNP MAP2K4 ENST00000415385 human ensembl 70_37 +1 known silent c.255 p.E85 1.000 NULL 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 MAP2K4 HGNC MAPT 4137 genome.wustl.edu 37 17 44101491 44101491 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 44101491 44101491 C T SNP MAPT ENST00000344290 human ensembl 70_37 +1 known missense c.2285 p.T762M 1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC MARCH5 54708 genome.wustl.edu 37 10 94070946 94070946 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 94070946 94070946 G A SNP MARCH5 ENST00000358935 human ensembl 70_37 +1 known silent c.90 p.V30 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC MARS 4141 genome.wustl.edu 37 12 57884137 57884137 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 57884137 57884137 G A SNP MARS ENST00000262027 human ensembl 70_37 +1 known missense c.638 p.G213E 0.259 NULL pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC MAT2A 4144 genome.wustl.edu 37 2 85770819 85770819 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 85770819 85770819 A C SNP MAT2A ENST00000306434 human ensembl 70_37 +1 known missense c.1112 p.Y371S 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC MB21D2 151963 genome.wustl.edu 37 3 192516720 192516720 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 192516720 192516720 G A SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known nonsense c.931 p.Q311* 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC MBD3 53615 genome.wustl.edu 37 19 1581162 1581162 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1581162 1581162 C T SNP MBD3 ENST00000156825 human ensembl 70_37 -1 known silent c.606 p.K202 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC MBD3L3 653657 genome.wustl.edu 37 19 7056699 7056699 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 7056699 7056699 G C SNP MBD3L3 ENST00000333843 human ensembl 70_37 -1 known silent c.261 p.L87 0.001 NULL NULL - no_errors MBD3L3 HGNC MBD3L3 653657 genome.wustl.edu 37 19 7056761 7056761 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 7056761 7056761 G A SNP MBD3L3 ENST00000333843 human ensembl 70_37 -1 known missense c.199 p.H67Y 0.008 NULL NULL - no_errors MBD3L3 HGNC MDM1 56890 genome.wustl.edu 37 12 68719811 68719811 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 68719811 68719811 C T SNP MDM1 ENST00000540476 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors MDM1 HGNC MDN1 23195 genome.wustl.edu 37 6 90383048 90383048 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 90383048 90383048 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13381 p.E4461K 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MDN1 23195 genome.wustl.edu 37 6 90466072 90466072 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 90466072 90466072 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.2740 p.E914K 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MEDAG 84935 genome.wustl.edu 37 13 31495779 31495779 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 31495779 31495779 G A SNP MEDAG ENST00000380482 human ensembl 70_37 +1 known missense c.583 p.E195K 1.000 NULL NULL - no_errors MEDAG HGNC MEDAG 84935 genome.wustl.edu 37 13 31495791 31495791 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 31495791 31495791 G A SNP MEDAG ENST00000380482 human ensembl 70_37 +1 known missense c.595 p.D199N 0.975 NULL NULL - no_errors MEDAG HGNC MEIS1 4211 genome.wustl.edu 37 2 66664989 66664989 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 66664989 66664989 C T SNP MEIS1 ENST00000407092 human ensembl 70_37 +1 known silent c.133 p.L45 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC MEIS2 4212 genome.wustl.edu 37 15 37188873 37188873 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 37188873 37188873 C T SNP MEIS2 ENST00000561208 human ensembl 70_37 -1 known missense c.992 p.R331K 1.000 pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC MEP1A 4224 genome.wustl.edu 37 6 46793026 46793026 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 46793026 46793026 G C SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.574 p.D192H 0.979 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC MIR34A 407040 genome.wustl.edu 37 1 9211750 9211750 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 9211750 9211750 C G SNP MIR34A ENST00000385130 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR34A HGNC KMT2D 8085 genome.wustl.edu 37 12 49433090 49433090 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 49433090 49433090 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.8281 p.L2761 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151878287 151878287 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 151878287 151878287 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6658 p.Q2220* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151878464 151878464 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 151878464 151878464 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6481 p.Q2161* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151947007 151947007 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 151947007 151947007 C G SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.1767 p.K589N 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLPH 79083 genome.wustl.edu 37 2 238434401 238434401 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 238434401 238434401 C T SNP MLPH ENST00000264605 human ensembl 70_37 +1 known missense c.833 p.P278L 0.000 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC MMP12 4321 genome.wustl.edu 37 11 102738047 102738047 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 102738047 102738047 C G SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MMP12 HGNC MPP5 64398 genome.wustl.edu 37 14 67769170 67769170 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 67769170 67769170 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.845 p.R282Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MPP7 143098 genome.wustl.edu 37 10 28408627 28408627 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 28408627 28408627 C T SNP MPP7 ENST00000337532 human ensembl 70_37 -1 known missense c.905 p.R302Q 1.000 superfamily_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain - no_errors MPP7 HGNC MPRIP 23164 genome.wustl.edu 37 17 17000095 17000095 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 17000095 17000095 G A SNP MPRIP ENST00000395807 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MPRIP HGNC MRPL4 51073 genome.wustl.edu 37 19 10369970 10369970 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 10369970 10369970 G A SNP MRPL4 ENST00000393733 human ensembl 70_37 +1 putative missense c.862 p.D288N 0.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC MRPL4 51073 genome.wustl.edu 37 19 10370058 10370058 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 10370058 10370058 G C SNP MRPL4 ENST00000393733 human ensembl 70_37 +1 putative missense c.950 p.G317A 0.003 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC MSC 9242 genome.wustl.edu 37 8 72756051 72756051 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 72756051 72756051 G A SNP MSC ENST00000325509 human ensembl 70_37 -1 known silent c.363 p.R121 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MSC HGNC MSTO1 55154 genome.wustl.edu 37 1 155581080 155581080 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155581080 155581080 G C SNP MSTO1 ENST00000245564 human ensembl 70_37 +1 known missense c.364 p.E122Q 1.000 superfamily_Tubulin_FtsZ_GTPase pfam_Misato_II_myosin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC MTDH 92140 genome.wustl.edu 37 8 98735262 98735262 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 98735262 98735262 G C SNP MTDH ENST00000336273 human ensembl 70_37 +1 known missense c.1677 p.Q559H 1.000 NULL NULL - no_errors MTDH HGNC MTHFD1 4522 genome.wustl.edu 37 14 64898256 64898256 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 64898256 64898256 C T SNP MTHFD1 ENST00000216605 human ensembl 70_37 +1 known missense c.1486 p.L496F 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC MTRF1L 54516 genome.wustl.edu 37 6 153310988 153310988 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 153310988 153310988 G A SNP MTRF1L ENST00000461949 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MTRF1L HGNC MTX1 4580 genome.wustl.edu 37 1 155180435 155180435 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155180435 155180435 G C SNP MTX1 ENST00000481771 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MTX1 HGNC MUC4 4585 genome.wustl.edu 37 3 195505972 195505972 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 195505972 195505972 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.12479 p.S4160C 0.302 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195513669 195513669 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 195513669 195513669 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.4782 p.S1594 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195513868 195513868 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 195513868 195513868 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4583 p.S1528L 0.970 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1269088 1269088 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 1269088 1269088 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.10987 p.E3663K 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1269198 1269198 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 1269198 1269198 G C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.11097 p.L3699 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1272287 1272287 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 1272287 1272287 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.14186 p.S4729F 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUM1 84939 genome.wustl.edu 37 19 1356398 1356398 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1356398 1356398 G C SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.10 p.D4H 1.000 NULL pfam_PWWP - no_errors MUM1 HGNC MUM1 84939 genome.wustl.edu 37 19 1371277 1371277 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1371277 1371277 G A SNP MUM1 ENST00000415183 human ensembl 70_37 +1 novel silent c.2034 p.R678 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC MXI1 4601 genome.wustl.edu 37 10 111967748 111967748 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 111967748 111967748 C T SNP MXI1 ENST00000332674 human ensembl 70_37 +1 known missense c.182 p.S61L 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MXI1 HGNC MXRA5 25878 genome.wustl.edu 37 X 3228085 3228085 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 3228085 3228085 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.8159 p.S2720L 0.007 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50939936 50939936 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50939936 50939936 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.408 p.L136 0.624 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC MYH9 4627 genome.wustl.edu 37 22 36717842 36717842 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 36717842 36717842 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.730 p.D244N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYO16 23026 genome.wustl.edu 37 13 109365049 109365049 + Silent SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 109365049 109365049 C A SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.267 p.L89 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC MYO16 23026 genome.wustl.edu 37 13 109365057 109365057 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 109365057 109365057 C T SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known missense c.275 p.S92L 0.989 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC MYO1B 4430 genome.wustl.edu 37 2 192246290 192246290 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 192246290 192246290 G A SNP MYO1B ENST00000304164 human ensembl 70_37 +1 known missense c.1288 p.E430K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC MYO1C 4641 genome.wustl.edu 37 17 1370785 1370785 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 1370785 1370785 G A SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.3054 p.I1018 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC MYPN 84665 genome.wustl.edu 37 10 69970178 69970178 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 69970178 69970178 C G SNP MYPN ENST00000358913 human ensembl 70_37 +1 known missense c.3929 p.S1310C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC NAALAD2 10003 genome.wustl.edu 37 11 89892437 89892437 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 89892437 89892437 G A SNP NAALAD2 ENST00000527493 human ensembl 70_37 +1 known missense c.827 p.R276K 0.001 NULL pfam_Protease-assoc_domain - no_errors NAALAD2 HGNC NAB2 4665 genome.wustl.edu 37 12 57483098 57483098 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 57483098 57483098 G A SNP NAB2 ENST00000300131 human ensembl 70_37 +1 known missense c.44 p.G15E 1.000 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC NADK 65220 genome.wustl.edu 37 1 1691201 1691201 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 1691201 1691201 C T SNP NADK ENST00000344463 human ensembl 70_37 -1 known missense c.404 p.R135Q 0.000 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC NAT9 26151 genome.wustl.edu 37 17 72767952 72767952 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 72767952 72767952 C G SNP NAT9 ENST00000357814 human ensembl 70_37 -1 known missense c.535 p.V179L 0.020 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC NAV3 89795 genome.wustl.edu 37 12 78571084 78571084 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 78571084 78571084 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.5288 p.S1763F 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBN 4683 genome.wustl.edu 37 8 90990479 90990479 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 90990479 90990479 C T SNP NBN ENST00000265433 human ensembl 70_37 -1 known missense c.553 p.E185K 1.000 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC NBPF8 728841 genome.wustl.edu 37 1 144607025 144607025 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 144607025 144607025 G A SNP NBPF8 ENST00000421407 human ensembl 70_37 +1 known rna NULL NULL 0.281 - - - no_errors NBPF8 HGNC NCAPD2 9918 genome.wustl.edu 37 12 6626091 6626091 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 6626091 6626091 G A SNP NCAPD2 ENST00000315579 human ensembl 70_37 +1 known missense c.1085 p.R362K 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC NCAPD3 23310 genome.wustl.edu 37 11 134079287 134079287 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 134079287 134079287 G A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known missense c.652 p.H218Y 0.033 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC NCDN 23154 genome.wustl.edu 37 1 36028072 36028072 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 36028072 36028072 C T SNP NCDN ENST00000356090 human ensembl 70_37 +1 known missense c.1223 p.S408L 1.000 NULL NULL - no_errors NCDN HGNC NCKIPSD 51517 genome.wustl.edu 37 3 48701446 48701446 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48701446 48701446 G A SNP NCKIPSD ENST00000341520 human ensembl 70_37 -1 known missense c.2087 p.S696F 0.004 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC NCOA4 8031 genome.wustl.edu 37 10 51585289 51585289 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 51585289 51585289 C T SNP NCOA4 ENST00000452682 human ensembl 70_37 +1 known missense c.1436 p.P479L 0.847 NULL pfam_ARA70 - no_errors NCOA4 HGNC NEO1 4756 genome.wustl.edu 37 15 73408941 73408941 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 73408941 73408941 C T SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.191 p.S64L 0.999 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC NETO1 81832 genome.wustl.edu 37 18 70526220 70526220 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 70526220 70526220 G A SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known nonsense c.310 p.R104* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC NFATC2 4773 genome.wustl.edu 37 20 50158912 50158912 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 50158912 50158912 C T SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.127 p.E43K 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC NFATC4 4776 genome.wustl.edu 37 14 24845656 24845656 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24845656 24845656 C T SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known missense c.2402 p.S801L 1.000 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 178098960 178098960 C A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.85 p.D29Y 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NHLH2 4808 genome.wustl.edu 37 1 116380715 116380715 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 116380715 116380715 G T SNP NHLH2 ENST00000320238 human ensembl 70_37 -1 known missense c.279 p.F93L 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors NHLH2 HGNC NKTR 4820 genome.wustl.edu 37 3 42662975 42662975 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 42662975 42662975 G A SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.341 p.R114Q 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC NLRP1 22861 genome.wustl.edu 37 17 5440179 5440179 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 5440179 5440179 G A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known silent c.2952 p.F984 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP5 126206 genome.wustl.edu 37 19 56572782 56572782 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 56572782 56572782 C T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known missense c.3491 p.P1164L 0.001 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC NLRP9 338321 genome.wustl.edu 37 19 56223837 56223837 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 56223837 56223837 C G SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.2621 p.R874T 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC NME8 51314 genome.wustl.edu 37 7 37936490 37936490 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 37936490 37936490 G A SNP NME8 ENST00000199447 human ensembl 70_37 +1 known missense c.1563 p.M521I 0.839 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC NMT1 4836 genome.wustl.edu 37 17 43138707 43138707 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 43138707 43138707 G A SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known missense c.10 p.E4K 1.000 NULL pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC NOL6 65083 genome.wustl.edu 37 9 33465793 33465793 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 33465793 33465793 C T SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known missense c.2467 p.A823T 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC NOS3 4846 genome.wustl.edu 37 7 150690919 150690919 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 150690919 150690919 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.28 p.E10K 1.000 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NOX5 79400 genome.wustl.edu 37 15 69335090 69335090 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 69335090 69335090 G C SNP NOX5 ENST00000388866 human ensembl 70_37 +1 known missense c.1592 p.G531A 0.009 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NOX5 HGNC NRL 4901 genome.wustl.edu 37 14 24550456 24550456 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24550456 24550456 G C SNP NRL ENST00000396997 human ensembl 70_37 -1 known missense c.703 p.L235V 0.978 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NRL HGNC NSD1 64324 genome.wustl.edu 37 5 176721266 176721266 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 176721266 176721266 C T SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.6897 p.L2299 0.959 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSFL1C 55968 genome.wustl.edu 37 20 1434905 1434905 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 1434905 1434905 C T SNP NSFL1C ENST00000350991 human ensembl 70_37 -1 known missense c.496 p.E166K 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC NSFL1C 55968 genome.wustl.edu 37 20 1434911 1434911 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 1434911 1434911 C T SNP NSFL1C ENST00000350991 human ensembl 70_37 -1 known missense c.490 p.E164K 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC NSUN5 55695 genome.wustl.edu 37 7 72717964 72717964 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 72717964 72717964 G A SNP NSUN5 ENST00000438747 human ensembl 70_37 -1 known missense c.1004 p.A335V 0.996 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC NUGGC 389643 genome.wustl.edu 37 8 27888822 27888822 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 27888822 27888822 C G SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.1846 p.E616Q 0.674 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC NUP188 23511 genome.wustl.edu 37 9 131747303 131747303 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747303 131747303 G A SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUP188 HGNC NUP188 23511 genome.wustl.edu 37 9 131747323 131747323 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747323 131747323 G C SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors NUP188 HGNC NUP188 23511 genome.wustl.edu 37 9 131747407 131747407 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747407 131747407 G A SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUP188 HGNC NUP188 23511 genome.wustl.edu 37 9 131747420 131747420 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131747420 131747420 G A SNP NUP188 ENST00000465344 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors NUP188 HGNC NXF5 55998 genome.wustl.edu 37 X 101096287 101096287 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101096287 101096287 G A SNP NXF5 ENST00000263032 human ensembl 70_37 -1 known missense c.337 p.R113W 0.959 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC NYAP2 57624 genome.wustl.edu 37 2 226378118 226378118 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 226378118 226378118 G A SNP NYAP2 ENST00000272907 human ensembl 70_37 +1 known missense c.253 p.G85R 1.000 NULL NULL - no_errors NYAP2 HGNC OFD1 8481 genome.wustl.edu 37 X 13770894 13770894 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 13770894 13770894 G A SNP OFD1 ENST00000490265 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OFD1 HGNC OGT 8473 genome.wustl.edu 37 X 70787860 70787860 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70787860 70787860 C T SNP OGT ENST00000373719 human ensembl 70_37 +1 known nonsense c.2860 p.R954* 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC OPHN1 4983 genome.wustl.edu 37 X 67316727 67316727 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 67316727 67316727 G A SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known silent c.1671 p.I557 0.989 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC OPLAH 26873 genome.wustl.edu 37 8 145111904 145111904 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 145111904 145111904 C T SNP OPLAH ENST00000426825 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors OPLAH HGNC OR10J5 127385 genome.wustl.edu 37 1 159505066 159505066 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 159505066 159505066 G A SNP OR10J5 ENST00000334857 human ensembl 70_37 -1 known silent c.732 p.L244 0.807 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC OR10J5 127385 genome.wustl.edu 37 1 159505654 159505654 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 159505654 159505654 G A SNP OR10J5 ENST00000334857 human ensembl 70_37 -1 known silent c.144 p.I48 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC OR1E1 8387 genome.wustl.edu 37 17 3301252 3301252 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 3301252 3301252 C T SNP OR1E1 ENST00000322608 human ensembl 70_37 -1 known silent c.453 p.L151 0.020 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC OR2M3 127062 genome.wustl.edu 37 1 248366381 248366381 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 248366381 248366381 G A SNP OR2M3 ENST00000456743 human ensembl 70_37 +1 known silent c.12 p.E4 0.095 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2M3 HGNC OR2M7 391196 genome.wustl.edu 37 1 248487754 248487754 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 248487754 248487754 G C SNP OR2M7 ENST00000317965 human ensembl 70_37 -1 known missense c.117 p.F39L 0.001 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC OR4C15 81309 genome.wustl.edu 37 11 55322127 55322127 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 55322127 55322127 C T SNP OR4C15 ENST00000314644 human ensembl 70_37 +1 known silent c.345 p.F115 0.031 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC OR4X1 390113 genome.wustl.edu 37 11 48285589 48285589 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 48285589 48285589 C T SNP OR4X1 ENST00000320048 human ensembl 70_37 +1 known silent c.177 p.F59 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC OR51M1 390059 genome.wustl.edu 37 11 5411548 5411548 + Missense_Mutation SNP A A C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 5411548 5411548 A C SNP OR51M1 ENST00000328611 human ensembl 70_37 +1 known missense c.920 p.K307T 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC OR52N5 390075 genome.wustl.edu 37 11 5799592 5799592 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 5799592 5799592 G A SNP OR52N5 ENST00000317093 human ensembl 70_37 -1 known silent c.273 p.L91 0.028 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC OR5AR1 219493 genome.wustl.edu 37 11 56431445 56431445 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 56431445 56431445 C G SNP OR5AR1 ENST00000302969 human ensembl 70_37 +1 known missense c.284 p.S95C 0.089 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC OR5F1 338674 genome.wustl.edu 37 11 55761413 55761413 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 55761413 55761413 G A SNP OR5F1 ENST00000278409 human ensembl 70_37 -1 known missense c.689 p.S230L 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC OR5F1 338674 genome.wustl.edu 37 11 55762043 55762043 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 55762043 55762043 G A SNP OR5F1 ENST00000278409 human ensembl 70_37 -1 known missense c.59 p.T20M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC OSR1 130497 genome.wustl.edu 37 2 19553095 19553095 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 19553095 19553095 G C SNP OSR1 ENST00000272223 human ensembl 70_37 -1 known missense c.472 p.P158A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC OSR1 130497 genome.wustl.edu 37 2 19553114 19553114 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 19553114 19553114 G C SNP OSR1 ENST00000272223 human ensembl 70_37 -1 known silent c.453 p.L151 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC OXCT2 64064 genome.wustl.edu 37 1 40235401 40235401 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 40235401 40235401 G C SNP OXCT2 ENST00000327582 human ensembl 70_37 -1 known silent c.1527 p.L509 0.001 pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC P2RY14 9934 genome.wustl.edu 37 3 150931786 150931786 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 150931786 150931786 C T SNP P2RY14 ENST00000309170 human ensembl 70_37 -1 known missense c.319 p.V107I 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_UDPG_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor - no_errors P2RY14 HGNC P4HA2 8974 genome.wustl.edu 37 5 131553006 131553006 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 131553006 131553006 G A SNP P4HA2 ENST00000166534 human ensembl 70_37 -1 known missense c.215 p.S72L 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC P4HB 5034 genome.wustl.edu 37 17 79801944 79801944 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79801944 79801944 C T SNP P4HB ENST00000331483 human ensembl 70_37 -1 known missense c.1471 p.E491K 0.620 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC P4HB 5034 genome.wustl.edu 37 17 79801950 79801950 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 79801950 79801950 C T SNP P4HB ENST00000331483 human ensembl 70_37 -1 known missense c.1465 p.E489K 0.997 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC PABPC1L 80336 genome.wustl.edu 37 20 43547895 43547895 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 43547895 43547895 G A SNP PABPC1L ENST00000217073 human ensembl 70_37 +1 known missense c.715 p.E239K 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC PABPC3 5042 genome.wustl.edu 37 13 25670507 25670507 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 25670507 25670507 G A SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known silent c.171 p.V57 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC PAF1 54623 genome.wustl.edu 37 19 39879801 39879801 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 39879801 39879801 C T SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.499 p.E167K 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC PALB2 79728 genome.wustl.edu 37 16 23634403 23634403 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 23634403 23634403 C T SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known silent c.2883 p.L961 0.897 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC PAPD4 167153 genome.wustl.edu 37 5 78975427 78975427 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 78975427 78975427 C T SNP PAPD4 ENST00000296783 human ensembl 70_37 +1 known missense c.1234 p.R412C 1.000 pfam_PAP_assoc pfam_PAP_assoc - no_errors PAPD4 HGNC PAPPA2 60676 genome.wustl.edu 37 1 176525551 176525551 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 176525551 176525551 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known silent c.93 p.K31 0.463 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PASD1 139135 genome.wustl.edu 37 X 150840129 150840129 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 150840129 150840129 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known missense c.1315 p.A439T 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC PCDH1 5097 genome.wustl.edu 37 5 141233619 141233619 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 141233619 141233619 C G SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known missense c.3702 p.E1234D 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC PCDH17 27253 genome.wustl.edu 37 13 58208350 58208350 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 58208350 58208350 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.1670 p.S557L 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDH17 27253 genome.wustl.edu 37 13 58208837 58208837 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 58208837 58208837 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known silent c.2157 p.L719 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDHA6 56142 genome.wustl.edu 37 5 140208714 140208714 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 140208714 140208714 C A SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known missense c.1038 p.N346K 0.039 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC PCDHAC2 56134 genome.wustl.edu 37 5 140348363 140348363 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 140348363 140348363 C T SNP PCDHAC2 ENST00000289269 human ensembl 70_37 +1 known missense c.2012 p.S671L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC PCDHGA9 56107 genome.wustl.edu 37 5 140783915 140783915 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 140783915 140783915 G A SNP PCDHGA9 ENST00000573521 human ensembl 70_37 +1 known missense c.1396 p.A466T 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC PCK2 5106 genome.wustl.edu 37 14 24568910 24568910 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 24568910 24568910 G C SNP PCK2 ENST00000216780 human ensembl 70_37 +1 known missense c.996 p.W332C 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC PCLO 27445 genome.wustl.edu 37 7 82390753 82390753 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 82390753 82390753 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.15064 p.D5022N 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCYOX1 51449 genome.wustl.edu 37 2 70485306 70485306 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 70485306 70485306 G A SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known missense c.10 p.V4I 0.000 pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC PCYOX1 51449 genome.wustl.edu 37 2 70485372 70485372 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 70485372 70485372 G A SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known missense c.76 p.E26K 0.710 pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC PDE6A 5145 genome.wustl.edu 37 5 149276280 149276280 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 149276280 149276280 C G SNP PDE6A ENST00000255266 human ensembl 70_37 -1 known missense c.1467 p.E489D 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC PDE9A 5152 genome.wustl.edu 37 21 44185528 44185528 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 44185528 44185528 G T SNP PDE9A ENST00000291539 human ensembl 70_37 +1 known missense c.1280 p.R427I 0.983 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC PDSS1 23590 genome.wustl.edu 37 10 27009280 27009280 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 27009280 27009280 G A SNP PDSS1 ENST00000376215 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC PEAK1 79834 genome.wustl.edu 37 15 77473482 77473482 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 77473482 77473482 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PER2 8864 genome.wustl.edu 37 2 239161691 239161691 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 239161691 239161691 G A SNP PER2 ENST00000254657 human ensembl 70_37 -1 known silent c.2973 p.L991 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC PGBD4 161779 genome.wustl.edu 37 15 34395013 34395013 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 34395013 34395013 G A SNP PGBD4 ENST00000397766 human ensembl 70_37 +1 known missense c.281 p.R94K 0.236 NULL NULL - no_errors PGBD4 HGNC PHEX 5251 genome.wustl.edu 37 X 22112215 22112215 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 22112215 22112215 G A SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.847 p.E283K 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC PI4KA 5297 genome.wustl.edu 37 22 21075635 21075635 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 21075635 21075635 C T SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known nonsense c.5067 p.W1689* 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PICALM 8301 genome.wustl.edu 37 11 85723350 85723350 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 85723350 85723350 T C SNP PICALM ENST00000393346 human ensembl 70_37 -1 known missense c.632 p.Y211C 1.000 pfam_ANTH pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC PIDD 55367 genome.wustl.edu 37 11 799341 799341 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 799341 799341 G C SNP PIDD ENST00000347755 human ensembl 70_37 -1 known missense c.2699 p.S900W 0.000 NULL pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC PIEZO2 63895 genome.wustl.edu 37 18 10762946 10762946 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 10762946 10762946 C G SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known missense c.3064 p.E1022Q 0.026 NULL NULL - no_errors PIEZO2 HGNC PIK3C2A 5286 genome.wustl.edu 37 11 17191131 17191131 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 17191131 17191131 C T SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.158 p.R53K 0.311 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CB 5291 genome.wustl.edu 37 3 138383904 138383904 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 138383904 138383904 C T SNP PIK3CB ENST00000289153 human ensembl 70_37 -1 known silent c.2646 p.L882 0.941 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC PIK3CD 5293 genome.wustl.edu 37 1 9784991 9784991 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 9784991 9784991 C T SNP PIK3CD ENST00000536656 human ensembl 70_37 +1 known silent c.3066 p.L1022 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC PILRA 29992 genome.wustl.edu 37 7 99997555 99997555 + Nonstop_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 99997555 99997555 G C SNP PILRA ENST00000453419 human ensembl 70_37 +1 novel nonstop c.680 p.*227S 0.006 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors PILRA HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110461662 110461662 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 110461662 110461662 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.6121 p.D2041N 0.133 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110530692 110530692 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 110530692 110530692 G C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.11986 p.E3996Q 0.998 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155200421 155200421 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 155200421 155200421 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.3418 p.G1140S 0.001 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155203219 155203219 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 155203219 155203219 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.2924 p.R975K 0.007 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLEC 5339 genome.wustl.edu 37 8 145007171 145007171 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 145007171 145007171 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.1938 p.Q646H 0.839 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA8 84725 genome.wustl.edu 37 7 30101579 30101579 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 30101579 30101579 G A SNP PLEKHA8 ENST00000449726 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.997 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC PLGLB2 5342 genome.wustl.edu 37 2 88047697 88047697 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 88047697 88047697 C T SNP PLGLB2 ENST00000359481 human ensembl 70_37 +1 known silent c.25 p.L9 0.982 NULL pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app - no_errors PLGLB2 HGNC PLIN4 729359 genome.wustl.edu 37 19 4513036 4513036 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 4513036 4513036 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.894 p.M298I 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PLVAP 83483 genome.wustl.edu 37 19 17471630 17471630 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 17471630 17471630 C T SNP PLVAP ENST00000252590 human ensembl 70_37 -1 known missense c.1191 p.M397I 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC PLXNA2 5362 genome.wustl.edu 37 1 208390910 208390910 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 208390910 208390910 C T SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known missense c.358 p.D120N 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC PLXNB1 5364 genome.wustl.edu 37 3 48459641 48459641 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 48459641 48459641 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.3181 p.E1061K 0.994 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC PMEL 6490 genome.wustl.edu 37 12 56359789 56359789 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 56359789 56359789 G A SNP PMEL ENST00000360714 human ensembl 70_37 -1 known silent c.7 p.L3 0.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC PML 5371 genome.wustl.edu 37 15 74290717 74290717 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 74290717 74290717 G A SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.502 p.E168K 0.992 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC PNRC1 10957 genome.wustl.edu 37 6 89790830 89790830 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 89790830 89790830 C T SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known missense c.217 p.R73C 0.115 NULL NULL - no_errors PNRC1 HGNC POLR2C 5432 genome.wustl.edu 37 16 57496588 57496588 + RNA SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 57496588 57496588 C A SNP POLR2C ENST00000564651 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2C HGNC POTEH 23784 genome.wustl.edu 37 22 16287817 16287817 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 16287817 16287817 C T SNP POTEH ENST00000343518 human ensembl 70_37 -1 known silent c.69 p.K23 0.014 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC POU1F1 5449 genome.wustl.edu 37 3 87313556 87313556 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 87313556 87313556 G C SNP POU1F1 ENST00000344265 human ensembl 70_37 -1 known missense c.399 p.F133L 0.998 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU1F1 HGNC PPAP2B 8613 genome.wustl.edu 37 1 56989993 56989993 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 56989993 56989993 C G SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known missense c.531 p.Q177H 0.995 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC PPFIA3 8541 genome.wustl.edu 37 19 49632266 49632266 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 49632266 49632266 G C SNP PPFIA3 ENST00000334186 human ensembl 70_37 +1 known missense c.504 p.E168D 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC PPP2R5E 5529 genome.wustl.edu 37 14 63888774 63888774 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 63888774 63888774 G A SNP PPP2R5E ENST00000337537 human ensembl 70_37 -1 known silent c.393 p.D131 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC PRDM2 7799 genome.wustl.edu 37 1 14105433 14105433 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 14105433 14105433 C T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known silent c.1143 p.I381 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRDM2 7799 genome.wustl.edu 37 1 14105434 14105434 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 14105434 14105434 C T SNP PRDM2 ENST00000235372 human ensembl 70_37 +1 known missense c.1144 p.H382Y 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC PRKD2 25865 genome.wustl.edu 37 19 47200444 47200444 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 47200444 47200444 G T SNP PRKD2 ENST00000291281 human ensembl 70_37 -1 known missense c.1287 p.F429L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC PRKDC 5591 genome.wustl.edu 37 8 48694968 48694968 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 48694968 48694968 C T SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.11364 p.R3788 0.095 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,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 PRKDC HGNC PRKDC 5591 genome.wustl.edu 37 8 48792189 48792189 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 48792189 48792189 T C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.5095 p.T1699A 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,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 PRKDC HGNC PRMT6 55170 genome.wustl.edu 37 1 107599582 107599582 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 107599582 107599582 G A SNP PRMT6 ENST00000370078 human ensembl 70_37 +1 known missense c.245 p.R82Q 0.993 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_mo5U34_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC PROSC 11212 genome.wustl.edu 37 8 37620216 37620216 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 37620216 37620216 C T SNP PROSC ENST00000328195 human ensembl 70_37 +1 known silent c.39 p.V13 0.917 pirsf_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC PRPF31 26121 genome.wustl.edu 37 19 54627905 54627905 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54627905 54627905 C T SNP PRPF31 ENST00000321030 human ensembl 70_37 +1 known missense c.725 p.S242F 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC PRR22 163154 genome.wustl.edu 37 19 5783184 5783184 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 5783184 5783184 G A SNP PRR22 ENST00000419421 human ensembl 70_37 -1 known silent c.1074 p.F358 1.000 NULL NULL - no_errors PRR22 HGNC PSG4 5672 genome.wustl.edu 37 19 43708314 43708314 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 43708314 43708314 G A SNP PSG4 ENST00000405312 human ensembl 70_37 -1 known missense c.154 p.L52F 0.021 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC PSMA3 5684 genome.wustl.edu 37 14 58737187 58737187 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 58737187 58737187 C T SNP PSMA3 ENST00000216455 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC PSMB8 5696 genome.wustl.edu 37 6 32810552 32810552 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 32810552 32810552 G A SNP PSMB8 ENST00000374882 human ensembl 70_37 -1 known missense c.304 p.R102W 0.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC PTPRM 5797 genome.wustl.edu 37 18 8387204 8387204 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 8387204 8387204 C T SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.4182 p.G1394 0.001 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PTPRN 5798 genome.wustl.edu 37 2 220172265 220172265 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 220172265 220172265 G A SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known nonsense c.181 p.Q61* 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC PTPRS 5802 genome.wustl.edu 37 19 5243946 5243946 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 5243946 5243946 G C SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known silent c.1539 p.L513 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC PUSL1 126789 genome.wustl.edu 37 1 1246426 1246426 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 1246426 1246426 C G SNP PUSL1 ENST00000379031 human ensembl 70_37 +1 known silent c.837 p.L279 0.037 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA - no_errors PUSL1 HGNC QSER1 79832 genome.wustl.edu 37 11 32948716 32948716 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 32948716 32948716 G A SNP QSER1 ENST00000527250 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors QSER1 HGNC RAB11FIP1 80223 genome.wustl.edu 37 8 37730596 37730596 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 37730596 37730596 G C SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.1724 p.S575C 0.001 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC RAB19 401409 genome.wustl.edu 37 7 140111670 140111670 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 140111670 140111670 C G SNP RAB19 ENST00000275874 human ensembl 70_37 +1 known silent c.339 p.L113 0.000 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB19 HGNC RABEP1 9135 genome.wustl.edu 37 17 5257750 5257750 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 5257750 5257750 C G SNP RABEP1 ENST00000262477 human ensembl 70_37 +1 known missense c.1060 p.Q354E 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC RAD17 5884 genome.wustl.edu 37 5 68680719 68680719 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 68680719 68680719 G A SNP RAD17 ENST00000380774 human ensembl 70_37 +1 known missense c.637 p.G213R 1.000 tigrfam_Checkpoint_prot_Rad24_fun/met tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC RALGAPA2 57186 genome.wustl.edu 37 20 20491928 20491928 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 20491928 20491928 C G SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.4898 p.R1633T 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC RAP2C 57826 genome.wustl.edu 37 X 131351094 131351094 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 131351094 131351094 C G SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known missense c.203 p.R68T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC RAP2C 57826 genome.wustl.edu 37 X 131351137 131351137 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 131351137 131351137 C T SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known missense c.160 p.E54K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC RAPGEF4 11069 genome.wustl.edu 37 2 173881101 173881101 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 173881101 173881101 G A SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known missense c.1834 p.D612N 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC RASA3 22821 genome.wustl.edu 37 13 114773065 114773065 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 114773065 114773065 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known silent c.1686 p.S562 0.453 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC RASGRF2 5924 genome.wustl.edu 37 5 80256695 80256695 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 80256695 80256695 C T SNP RASGRF2 ENST00000265080 human ensembl 70_37 +1 known silent c.138 p.L46 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC RASGRP4 115727 genome.wustl.edu 37 19 38912755 38912755 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 38912755 38912755 C T SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.62 p.R21Q 0.072 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC RB1 5925 genome.wustl.edu 37 13 49030426 49030426 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 49030426 49030426 C A SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.1901 p.S634* 1.000 NULL pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RB1CC1 9821 genome.wustl.edu 37 8 53570327 53570327 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 53570327 53570327 C T SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known missense c.2062 p.E688K 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC RBL1 5933 genome.wustl.edu 37 20 35661206 35661206 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 35661206 35661206 C A SNP RBL1 ENST00000373664 human ensembl 70_37 -1 known missense c.2244 p.K748N 0.996 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC RBM10 8241 genome.wustl.edu 37 X 47041164 47041164 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 47041164 47041164 C T SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.1592 p.S531L 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RBM4B 83759 genome.wustl.edu 37 11 66444408 66444408 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 66444408 66444408 G A SNP RBM4B ENST00000310046 human ensembl 70_37 -1 known missense c.143 p.A48V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC RBMX 27316 genome.wustl.edu 37 X 135955584 135955584 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 135955584 135955584 G A SNP RBMX ENST00000496459 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMX HGNC REPS2 9185 genome.wustl.edu 37 X 17092270 17092270 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 17092270 17092270 G A SNP REPS2 ENST00000357277 human ensembl 70_37 +1 known missense c.1367 p.R456K 1.000 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS2 HGNC REV1 51455 genome.wustl.edu 37 2 100040681 100040681 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 100040681 100040681 G A SNP REV1 ENST00000258428 human ensembl 70_37 -1 known nonsense c.1609 p.Q537* 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC RHOH 399 genome.wustl.edu 37 4 40245542 40245542 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 40245542 40245542 G C SNP RHOH ENST00000381799 human ensembl 70_37 +1 known missense c.536 p.R179T 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOH HGNC RIF1 55183 genome.wustl.edu 37 2 152273185 152273185 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 152273185 152273185 G A SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.391 p.E131K 0.998 superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RIT1 6016 genome.wustl.edu 37 1 155870325 155870325 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 155870325 155870325 C T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.514 p.D172N 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC RNF148 378925 genome.wustl.edu 37 7 122342331 122342331 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 122342331 122342331 C G SNP RNF148 ENST00000434824 human ensembl 70_37 -1 known silent c.474 p.L158 0.996 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC RNF17 56163 genome.wustl.edu 37 13 25338448 25338448 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 25338448 25338448 G A SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.107 p.G36E 0.539 pfscan_Znf_RING pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC RNF8 9025 genome.wustl.edu 37 6 37321864 37321864 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 37321864 37321864 G A SNP RNF8 ENST00000479516 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF8 HGNC RP1 6101 genome.wustl.edu 37 8 55542413 55542413 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 55542413 55542413 C T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known nonsense c.5971 p.Q1991* 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21780626 21780626 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 21780626 21780626 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1112 p.R371Q 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPL14 9045 genome.wustl.edu 37 3 40503459 40503459 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 40503459 40503459 G A SNP RPL14 ENST00000338970 human ensembl 70_37 +1 known silent c.384 p.K128 1.000 NULL pfam_Ribosomal_L14 - no_errors RPL14 HGNC RPL7L1 285855 genome.wustl.edu 37 6 42853756 42853756 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 42853756 42853756 G C SNP RPL7L1 ENST00000304734 human ensembl 70_37 +1 known missense c.467 p.G156A 1.000 superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC RPS19 6223 genome.wustl.edu 37 19 42364896 42364896 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 42364896 42364896 C G SNP RPS19 ENST00000593863 human ensembl 70_37 +1 known missense c.52 p.L18V 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC RPS5 6193 genome.wustl.edu 37 19 58904758 58904758 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58904758 58904758 C G SNP RPS5 ENST00000196551 human ensembl 70_37 +1 known missense c.351 p.I117M 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC RSPH10B 222967 genome.wustl.edu 37 7 5967906 5967906 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 5967906 5967906 C G SNP RSPH10B ENST00000337579 human ensembl 70_37 -1 known missense c.2353 p.E785Q 1.000 NULL pfam_MORN,smart_MORN - no_errors RSPH10B HGNC RSPH10B2 728194 genome.wustl.edu 37 7 6836318 6836318 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 6836318 6836318 G C SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known missense c.2353 p.E785Q 0.943 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC SACM1L 22908 genome.wustl.edu 37 3 45751043 45751043 + Silent SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 45751043 45751043 T C SNP SACM1L ENST00000389061 human ensembl 70_37 +1 known silent c.387 p.D129 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC SATB1 6304 genome.wustl.edu 37 3 18427918 18427918 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 18427918 18427918 G C SNP SATB1 ENST00000338745 human ensembl 70_37 -1 known missense c.1392 p.I464M 0.993 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC SBNO1 55206 genome.wustl.edu 37 12 123804981 123804981 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 123804981 123804981 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.2665 p.E889K 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SBNO2 22904 genome.wustl.edu 37 19 1119067 1119067 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 1119067 1119067 G A SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known silent c.1470 p.I490 0.868 NULL NULL - no_errors SBNO2 HGNC SCD5 79966 genome.wustl.edu 37 4 83719652 83719652 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 83719652 83719652 G A SNP SCD5 ENST00000319540 human ensembl 70_37 -1 known silent c.39 p.F13 0.018 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC SCN1A 6323 genome.wustl.edu 37 2 166848682 166848682 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 166848682 166848682 G C SNP SCN1A ENST00000303395 human ensembl 70_37 -1 known missense c.5103 p.I1701M 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC SCN3A 6328 genome.wustl.edu 37 2 166027044 166027044 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 166027044 166027044 C T SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.279 p.M93I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC SCN5A 6331 genome.wustl.edu 37 3 38645227 38645227 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 38645227 38645227 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known silent c.1866 p.V622 0.811 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SCO2 9997 genome.wustl.edu 37 22 50962089 50962089 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 50962089 50962089 G T SNP SCO2 ENST00000252785 human ensembl 70_37 -1 known nonsense c.752 p.S251* 0.009 superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC SDK2 54549 genome.wustl.edu 37 17 71354234 71354234 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 71354234 71354234 G C SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.5577 p.I1859M 0.901 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SEC31A 22872 genome.wustl.edu 37 4 83788337 83788337 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 83788337 83788337 C G SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known missense c.1015 p.D339H 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SEMA3E 9723 genome.wustl.edu 37 7 83014705 83014705 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 83014705 83014705 C T SNP SEMA3E ENST00000307792 human ensembl 70_37 -1 known missense c.1780 p.E594K 1.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC SEMA6B 10501 genome.wustl.edu 37 19 4550843 4550843 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 4550843 4550843 C T SNP SEMA6B ENST00000301293 human ensembl 70_37 -1 known silent c.1089 p.T363 0.161 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6B HGNC SEPT1 1731 genome.wustl.edu 37 16 30390802 30390802 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30390802 30390802 C T SNP SEPT1 ENST00000321367 human ensembl 70_37 -1 known silent c.729 p.G243 0.001 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT1 HGNC SEPT14 346288 genome.wustl.edu 37 7 55929647 55929647 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 55929647 55929647 C T SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known missense c.43 p.D15N 0.001 NULL pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC SEPT6 23157 genome.wustl.edu 37 X 118763424 118763424 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 118763424 118763424 C T SNP SEPT6 ENST00000394617 human ensembl 70_37 -1 known silent c.1227 p.K409 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT6 HGNC SEPT9 10801 genome.wustl.edu 37 17 75398439 75398439 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 75398439 75398439 C T SNP SEPT9 ENST00000427177 human ensembl 70_37 +1 known silent c.375 p.I125 0.240 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 - no_errors SEPT9 HGNC SERPINA9 327657 genome.wustl.edu 37 14 94935613 94935613 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 94935613 94935613 C T SNP SERPINA9 ENST00000337425 human ensembl 70_37 -1 known missense c.619 p.D207N 0.003 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA9 HGNC SETD5 55209 genome.wustl.edu 37 3 9515167 9515167 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 9515167 9515167 C T SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.3443 p.S1148F 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC SF3A3 10946 genome.wustl.edu 37 1 38444671 38444671 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 38444671 38444671 C G SNP SF3A3 ENST00000373019 human ensembl 70_37 -1 known missense c.816 p.L272F 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC SH3KBP1 30011 genome.wustl.edu 37 X 19626095 19626095 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 19626095 19626095 G A SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known silent c.966 p.F322 0.989 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC SH3TC1 54436 genome.wustl.edu 37 4 8211480 8211480 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 8211480 8211480 G T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.178 p.A60S 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC SHC3 53358 genome.wustl.edu 37 9 91661881 91661881 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 91661881 91661881 C T SNP SHC3 ENST00000375835 human ensembl 70_37 -1 known missense c.991 p.E331K 0.993 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC3 HGNC SHROOM4 57477 genome.wustl.edu 37 X 50351126 50351126 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 50351126 50351126 C T SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.3016 p.E1006K 0.994 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC SIX3 6496 genome.wustl.edu 37 2 45169636 45169636 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 45169636 45169636 C T SNP SIX3 ENST00000260653 human ensembl 70_37 +1 known silent c.393 p.I131 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC SKI 6497 genome.wustl.edu 37 1 2235502 2235502 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 2235502 2235502 G A SNP SKI ENST00000378536 human ensembl 70_37 +1 known missense c.1435 p.D479N 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC SKOR1 390598 genome.wustl.edu 37 15 68122618 68122618 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 68122618 68122618 C T SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2497 p.P833S 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC SLA 6503 genome.wustl.edu 37 8 134072369 134072369 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 134072369 134072369 C T SNP SLA ENST00000427060 human ensembl 70_37 -1 known missense c.157 p.E53K 0.983 superfamily_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC SLC17A2 10246 genome.wustl.edu 37 6 25916994 25916995 + Frame_Shift_Ins INS - - A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 25916994 25916995 - A INS SLC17A2 ENST00000377850 human ensembl 70_37 -1 known frame_shift_ins c.849_848 p.S284fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC SLC1A6 6511 genome.wustl.edu 37 19 15079227 15079227 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 15079227 15079227 C T SNP SLC1A6 ENST00000221742 human ensembl 70_37 -1 known missense c.436 p.G146S 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC SLC22A23 63027 genome.wustl.edu 37 6 3323946 3323946 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 3323946 3323946 C G SNP SLC22A23 ENST00000433689 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors SLC22A23 HGNC SLC25A14 9016 genome.wustl.edu 37 X 129506941 129506941 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 129506941 129506941 G A SNP SLC25A14 ENST00000465988 human ensembl 70_37 +1 known rna NULL NULL 0.243 - - - no_errors SLC25A14 HGNC SLC25A35 399512 genome.wustl.edu 37 17 8197858 8197858 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 8197858 8197858 C T SNP SLC25A35 ENST00000577745 human ensembl 70_37 -1 known missense c.268 p.G90R 0.110 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC SLC25A47 283600 genome.wustl.edu 37 14 100795778 100795778 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 100795778 100795778 C G SNP SLC25A47 ENST00000361529 human ensembl 70_37 +1 known missense c.723 p.I241M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC SLC25A6 293 genome.wustl.edu 37 X 1508375 1508375 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 1508375 1508375 G A SNP SLC25A6 ENST00000381401 human ensembl 70_37 -1 known silent c.357 p.S119 0.689 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25677795 25677795 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 25677795 25677795 C T SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known silent c.1497 p.I499 0.403 pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC35A5 55032 genome.wustl.edu 37 3 112301776 112301776 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 112301776 112301776 G A SNP SLC35A5 ENST00000460713 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC35A5 HGNC SLC38A9 153129 genome.wustl.edu 37 5 54948506 54948506 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 54948506 54948506 G C SNP SLC38A9 ENST00000318672 human ensembl 70_37 -1 known missense c.803 p.S268C 0.011 NULL pfam_AA_transpt_TM - no_errors SLC38A9 HGNC SLC7A3 84889 genome.wustl.edu 37 X 70145747 70145747 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 70145747 70145747 C G SNP SLC7A3 ENST00000298085 human ensembl 70_37 -1 known missense c.1776 p.E592D 0.374 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC SLCO6A1 133482 genome.wustl.edu 37 5 101813540 101813540 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 101813540 101813540 G A SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known silent c.642 p.V214 0.001 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC SLITRK4 139065 genome.wustl.edu 37 X 142718330 142718330 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 142718330 142718330 G A SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known silent c.595 p.L199 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC SLITRK5 26050 genome.wustl.edu 37 13 88330295 88330295 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 88330295 88330295 C T SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known silent c.2652 p.P884 0.724 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC SMC1B 27127 genome.wustl.edu 37 22 45802438 45802438 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 45802438 45802438 C G SNP SMC1B ENST00000357450 human ensembl 70_37 -1 known missense c.518 p.R173T 0.998 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC SMEK2 57223 genome.wustl.edu 37 2 55842596 55842596 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 55842596 55842596 C T SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known silent c.189 p.Q63 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC SMG1 23049 genome.wustl.edu 37 16 18865998 18865999 + Frame_Shift_Ins INS - - T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 18865998 18865999 - T INS SMG1 ENST00000389467 human ensembl 70_37 -1 known frame_shift_ins c.4463_4462 p.T1488fs 1.000:1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT 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 SMG1 23049 genome.wustl.edu 37 16 18866005 18866005 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 18866005 18866005 C G SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.4456 p.E1486Q 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT 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 SMG1 23049 genome.wustl.edu 37 16 18866113 18866113 + Nonsense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 18866113 18866113 C A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known nonsense c.4348 p.E1450* 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT 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 SMG8 55181 genome.wustl.edu 37 17 57292169 57292169 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 57292169 57292169 C T SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known nonsense c.2782 p.Q928* 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC SMUG1 23583 genome.wustl.edu 37 12 54577640 54577640 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 54577640 54577640 C G SNP SMUG1 ENST00000337581 human ensembl 70_37 -1 known missense c.85 p.E29Q 0.997 superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC SNAPC5 10302 genome.wustl.edu 37 15 66790039 66790039 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 66790039 66790039 C T SNP SNAPC5 ENST00000316634 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL NULL - no_errors SNAPC5 HGNC SNED1 25992 genome.wustl.edu 37 2 242007304 242007304 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 242007304 242007304 G A SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.3136 p.E1046K 0.882 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC SNORD54 26795 genome.wustl.edu 37 8 56986433 56986433 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 56986433 56986433 C G SNP SNORD54 ENST00000459159 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors SNORD54 HGNC SOGA3 387104 genome.wustl.edu 37 6 127834155 127834155 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 127834155 127834155 C T SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 NULL pfam_DUF3166 - no_errors SOGA3 HGNC SPA17 53340 genome.wustl.edu 37 11 124551305 124551305 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 124551305 124551305 G T SNP SPA17 ENST00000227135 human ensembl 70_37 +1 putative nonsense c.175 p.E59* 1.000 pirsf_Sp17 pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC SPAG7 9552 genome.wustl.edu 37 17 4863200 4863200 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 4863200 4863200 C G SNP SPAG7 ENST00000206020 human ensembl 70_37 -1 known missense c.429 p.Q143H 1.000 pirsf_Sperm-assoc_antigen_PAG7 pfam_R3H_ss-bd,smart_R3H_ss-bd,pirsf_Sperm-assoc_antigen_PAG7,pfscan_R3H_ss-bd - no_errors SPAG7 HGNC SPATA31A2 647060 genome.wustl.edu 37 9 39887980 39887980 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 39887980 39887980 G A SNP SPATA31A2 ENST00000456183 human ensembl 70_37 +1 known missense c.967 p.D323N 0.040 NULL NULL - no_errors SPATA31A2 HGNC SPEN 23013 genome.wustl.edu 37 1 16259513 16259513 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 16259513 16259513 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.6778 p.E2260K 0.147 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPG7 6687 genome.wustl.edu 37 16 89597205 89597205 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 89597205 89597205 G C SNP SPG7 ENST00000268704 human ensembl 70_37 +1 known missense c.976 p.D326H 1.000 tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC SPIC 121599 genome.wustl.edu 37 12 101880137 101880137 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 101880137 101880137 G A SNP SPIC ENST00000299272 human ensembl 70_37 +1 known missense c.335 p.R112Q 0.999 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPIC HGNC SPICE1 152185 genome.wustl.edu 37 3 113176079 113176079 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 113176079 113176079 G C SNP SPICE1 ENST00000295872 human ensembl 70_37 -1 known missense c.1561 p.L521V 0.011 NULL NULL - no_errors SPICE1 HGNC SPICE1 152185 genome.wustl.edu 37 3 113187197 113187197 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 113187197 113187197 G A SNP SPICE1 ENST00000295872 human ensembl 70_37 -1 known missense c.944 p.S315L 0.001 NULL NULL - no_errors SPICE1 HGNC SPRTN 83932 genome.wustl.edu 37 1 231474190 231474190 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 231474190 231474190 G A SNP SPRTN ENST00000295050 human ensembl 70_37 +1 known missense c.61 p.E21K 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC SRGAP1 57522 genome.wustl.edu 37 12 64519864 64519864 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 64519864 64519864 G C SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.2332 p.E778Q 0.996 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64521827 64521827 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 64521827 64521827 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known silent c.2727 p.R909 0.961 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SSRP1 6749 genome.wustl.edu 37 11 57099862 57099862 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 57099862 57099862 C T SNP SSRP1 ENST00000278412 human ensembl 70_37 -1 known missense c.867 p.M289I 1.000 pfam_SSRP1_dom pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ST18 9705 genome.wustl.edu 37 8 53092782 53092782 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 53092782 53092782 C T SNP ST18 ENST00000276480 human ensembl 70_37 -1 known missense c.177 p.M59I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ST3GAL6 10402 genome.wustl.edu 37 3 98512551 98512551 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 98512551 98512551 C T SNP ST3GAL6 ENST00000394162 human ensembl 70_37 +1 known silent c.942 p.L314 0.978 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC STAB1 23166 genome.wustl.edu 37 3 52549479 52549479 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 52549479 52549479 C G SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.3905 p.S1302C 0.465 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC STARD8 9754 genome.wustl.edu 37 X 67943510 67943510 + Nonsense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 67943510 67943510 G T SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known nonsense c.2842 p.E948* 0.992 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC STARD8 9754 genome.wustl.edu 37 X 67943675 67943675 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 67943675 67943675 G C SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known missense c.3007 p.V1003L 0.533 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC STX10 8677 genome.wustl.edu 37 19 13260417 13260417 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 13260417 13260417 G C SNP STX10 ENST00000440593 human ensembl 70_37 -1 known silent c.207 p.V69 0.076 pfam_Syntaxin-6_N pfam_Syntaxin-6_N,superfamily_t-SNARE - no_errors STX10 HGNC SUGP2 10147 genome.wustl.edu 37 19 19136583 19136583 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 19136583 19136583 C G SNP SUGP2 ENST00000337018 human ensembl 70_37 -1 known missense c.574 p.D192H 0.201 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC SULT1B1 27284 genome.wustl.edu 37 4 70596298 70596298 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 70596298 70596298 C T SNP SULT1B1 ENST00000310613 human ensembl 70_37 -1 known missense c.699 p.M233I 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC SUN5 140732 genome.wustl.edu 37 20 31573640 31573640 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 31573640 31573640 G A SNP SUN5 ENST00000356173 human ensembl 70_37 -1 known nonsense c.799 p.Q267* 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC SUPV3L1 6832 genome.wustl.edu 37 10 70945777 70945777 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 70945777 70945777 G A SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known silent c.306 p.K102 1.000 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC SURF4 6836 genome.wustl.edu 37 9 136230621 136230621 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 136230621 136230621 G A SNP SURF4 ENST00000545297 human ensembl 70_37 -1 known missense c.371 p.S124L 0.862 NULL pfam_Surf4 - no_errors SURF4 HGNC SVEP1 79987 genome.wustl.edu 37 9 113141679 113141679 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 113141679 113141679 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known silent c.10356 p.L3452 0.190 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVEP1 79987 genome.wustl.edu 37 9 113208160 113208160 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 113208160 113208160 C T SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.4420 p.D1474N 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SWI5 375757 genome.wustl.edu 37 9 131038452 131038452 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131038452 131038452 T C SNP SWI5 ENST00000320188 human ensembl 70_37 +1 known missense c.28 p.W10R 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC SWT1 54823 genome.wustl.edu 37 1 185135765 185135765 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 185135765 185135765 C T SNP SWT1 ENST00000367500 human ensembl 70_37 +1 known missense c.146 p.S49L 0.162 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC SYBU 55638 genome.wustl.edu 37 8 110587800 110587800 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 110587800 110587800 C T SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1327 p.D443N 0.989 NULL NULL - no_errors SYBU HGNC SYNE1 23345 genome.wustl.edu 37 6 152754964 152754964 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 152754964 152754964 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.4427 p.S1476L 0.992 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64488655 64488655 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 64488655 64488655 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.5433 p.L1811 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYT5 6861 genome.wustl.edu 37 19 55690439 55690439 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 55690439 55690439 G C SNP SYT5 ENST00000590851 human ensembl 70_37 -1 novel silent c.135 p.L45 0.003 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC SYTL4 94121 genome.wustl.edu 37 X 99955937 99955937 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 99955937 99955937 G A SNP SYTL4 ENST00000454200 human ensembl 70_37 -1 known silent c.495 p.I165 0.826 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin - no_errors SYTL4 HGNC TACC2 10579 genome.wustl.edu 37 10 123969978 123969978 + Missense_Mutation SNP T T C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 123969978 123969978 T C SNP TACC2 ENST00000334433 human ensembl 70_37 +1 known missense c.6038 p.F2013S 1.000 NULL pfam_TACC - no_errors TACC2 HGNC TACR2 6865 genome.wustl.edu 37 10 71168822 71168822 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 71168822 71168822 G A SNP TACR2 ENST00000373306 human ensembl 70_37 -1 known silent c.597 p.L199 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC TADA3 10474 genome.wustl.edu 37 3 9825714 9825714 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 9825714 9825714 C T SNP TADA3 ENST00000301964 human ensembl 70_37 -1 known silent c.1104 p.L368 1.000 pfam_Histone_AcTrfase_su3 pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC TAF5 6877 genome.wustl.edu 37 10 105139503 105139503 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 105139503 105139503 G T SNP TAF5 ENST00000369839 human ensembl 70_37 +1 known missense c.1252 p.D418Y 1.000 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC TAP1 6890 genome.wustl.edu 37 6 32816891 32816891 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 32816891 32816891 G C SNP TAP1 ENST00000354258 human ensembl 70_37 -1 known nonsense c.1433 p.S478* 0.994 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC TARSL2 123283 genome.wustl.edu 37 15 102197143 102197143 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 102197143 102197143 G C SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.2242 p.Q748E 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC TBC1D10B 26000 genome.wustl.edu 37 16 30369268 30369268 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 30369268 30369268 G C SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.2424 p.F808L 1.000 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 TCF25 22980 genome.wustl.edu 37 16 89951063 89951063 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 89951063 89951063 C T SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known missense c.428 p.S143L 0.010 NULL pfam_TCF25 - no_errors TCF25 HGNC TCTE1 202500 genome.wustl.edu 37 6 44255656 44255656 + Splice_Site SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 44255656 44255656 C T SNP TCTE1 ENST00000371505 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.416 - - - no_errors TCTE1 HGNC TCTEX1D2 255758 genome.wustl.edu 37 3 196044975 196044975 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 196044975 196044975 C T SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.49 p.E17K 0.043 NULL pfam_Tctex - no_errors TCTEX1D2 HGNC TENM2 57451 genome.wustl.edu 37 5 167687383 167687383 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 167687383 167687383 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.7528 p.E2510K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TERF1 7013 genome.wustl.edu 37 8 73939209 73939209 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 73939209 73939209 G A SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.809 p.R270K 0.143 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC TERF1 7013 genome.wustl.edu 37 8 73939210 73939210 + Missense_Mutation SNP A A T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 73939210 73939210 A T SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.810 p.R270S 0.111 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC TEX36 387718 genome.wustl.edu 37 10 127344501 127344501 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 127344501 127344501 C T SNP TEX36 ENST00000368821 human ensembl 70_37 -1 known missense c.529 p.D177N 0.009 NULL NULL - no_errors TEX36 HGNC TFF2 7032 genome.wustl.edu 37 21 43766557 43766557 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 43766557 43766557 G C SNP TFF2 ENST00000463771 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors TFF2 HGNC TGM3 7053 genome.wustl.edu 37 20 2315878 2315878 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 2315878 2315878 G A SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known missense c.1759 p.E587K 0.976 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC THAP7 80764 genome.wustl.edu 37 22 21354707 21354707 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 21354707 21354707 C T SNP THAP7 ENST00000215742 human ensembl 70_37 -1 known missense c.392 p.R131Q 0.827 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP7 HGNC THSD7B 80731 genome.wustl.edu 37 2 138414429 138414429 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 138414429 138414429 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.4178 p.R1393K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIE1 7075 genome.wustl.edu 37 1 43782884 43782884 + Silent SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43782884 43782884 C A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known silent c.2424 p.I808 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC TIE1 7075 genome.wustl.edu 37 1 43783067 43783067 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43783067 43783067 C T SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known silent c.2607 p.I869 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_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC TIE1 7075 genome.wustl.edu 37 1 43783157 43783157 + RNA SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43783157 43783157 C G SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TIE1 HGNC TIE1 7075 genome.wustl.edu 37 1 43783244 43783244 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 43783244 43783244 C G SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.2630 p.S877C 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_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC TIGD6 81789 genome.wustl.edu 37 5 149375086 149375086 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 149375086 149375086 C T SNP TIGD6 ENST00000296736 human ensembl 70_37 -1 known missense c.826 p.E276K 0.059 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC TJP1 7082 genome.wustl.edu 37 15 30112749 30112749 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 30112749 30112749 G A SNP TJP1 ENST00000400011 human ensembl 70_37 -1 novel missense c.20 p.S7L 0.000 superfamily_PDZ pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC TLE4 7091 genome.wustl.edu 37 9 82286177 82286177 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 82286177 82286177 C T SNP TLE4 ENST00000462803 human ensembl 70_37 +1 known silent c.663 p.T221 0.801 NULL pfam_Groucho/TLE_N - no_errors TLE4 HGNC TLK2 11011 genome.wustl.edu 37 17 60642387 60642387 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 60642387 60642387 G C SNP TLK2 ENST00000326270 human ensembl 70_37 +1 known missense c.857 p.R286T 1.000 NULL 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 TLK2 HGNC TMC4 147798 genome.wustl.edu 37 19 54664211 54664211 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54664211 54664211 C T SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.2045 p.R682K 0.106 NULL pfam_TMC - no_errors TMC4 HGNC TMC4 147798 genome.wustl.edu 37 19 54664213 54664213 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54664213 54664213 C T SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known silent c.2043 p.Q681 0.194 NULL pfam_TMC - no_errors TMC4 HGNC TMC4 147798 genome.wustl.edu 37 19 54672253 54672253 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 54672253 54672253 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.596 p.S199L 0.718 NULL pfam_TMC - no_errors TMC4 HGNC TMC7 79905 genome.wustl.edu 37 16 19056753 19056753 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 19056753 19056753 C T SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.1546 p.P516S 1.000 pfam_TMC pfam_TMC - no_errors TMC7 HGNC TMEM115 11070 genome.wustl.edu 37 3 50396484 50396484 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 50396484 50396484 G A SNP TMEM115 ENST00000266025 human ensembl 70_37 -1 known missense c.11 p.A4V 1.000 NULL pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC TMEM130 222865 genome.wustl.edu 37 7 98460788 98460788 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 98460788 98460788 G A SNP TMEM130 ENST00000416379 human ensembl 70_37 -1 known silent c.321 p.V107 1.000 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC TMEM168 64418 genome.wustl.edu 37 7 112407779 112407779 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 112407779 112407779 C T SNP TMEM168 ENST00000312814 human ensembl 70_37 -1 known missense c.1567 p.D523N 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC TMEM183A 92703 genome.wustl.edu 37 1 202985216 202985216 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 202985216 202985216 C T SNP TMEM183A ENST00000367242 human ensembl 70_37 +1 known missense c.656 p.S219F 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors TMEM183A HGNC TMEM194B 100131211 genome.wustl.edu 37 2 191375108 191375108 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 191375108 191375108 G C SNP TMEM194B ENST00000409150 human ensembl 70_37 -1 known missense c.1109 p.S370C 0.992 pfam_TMEM194 pfam_TMEM194 - no_errors TMEM194B HGNC TMEM50B 757 genome.wustl.edu 37 21 34841094 34841094 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 34841094 34841094 C T SNP TMEM50B ENST00000420455 human ensembl 70_37 -1 known silent c.99 p.L33 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC TMEM8B 51754 genome.wustl.edu 37 9 35846020 35846020 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 35846020 35846020 G A SNP TMEM8B ENST00000377988 human ensembl 70_37 +1 known missense c.328 p.E110K 1.000 NULL pfam_DUF3522 - no_errors TMEM8B HGNC TNFRSF10A 8797 genome.wustl.edu 37 8 23082497 23082497 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 23082497 23082497 C T SNP TNFRSF10A ENST00000221132 human ensembl 70_37 -1 known silent c.78 p.G26 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC TNFSF10 8743 genome.wustl.edu 37 3 172229441 172229441 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 172229441 172229441 C G SNP TNFSF10 ENST00000241261 human ensembl 70_37 -1 known missense c.279 p.L93F 1.000 pirsf_TNF_ligand_10/11 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF10 HGNC TNNT2 7139 genome.wustl.edu 37 1 201341205 201341205 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 201341205 201341205 G C SNP TNNT2 ENST00000466570 human ensembl 70_37 -1 known rna NULL NULL 0.374 - - - no_errors TNNT2 HGNC TP53 7157 genome.wustl.edu 37 17 7576889 7576889 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7576889 7576889 C G SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.957 p.K319N 0.998 pfam_p53_tetrameristn,superfamily_p53_tetrameristn 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 TP53 7157 genome.wustl.edu 37 17 7577077 7577077 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7577077 7577077 C G SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.861 p.E287D 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 TP53 7157 genome.wustl.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 7577099 7577099 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.839 p.R280K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,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 TPM3 7170 genome.wustl.edu 37 1 154130022 154130022 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 154130022 154130022 C T SNP TPM3 ENST00000312970 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TPM3 HGNC TPO 7173 genome.wustl.edu 37 2 1440117 1440117 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 1440117 1440117 C T SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.443 p.A148V 0.825 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,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 TPO 7173 genome.wustl.edu 37 2 1491622 1491622 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 1491622 1491622 C T SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.1627 p.L543F 0.162 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,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 TRAF3IP3 80342 genome.wustl.edu 37 1 209949007 209949007 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 209949007 209949007 G C SNP TRAF3IP3 ENST00000367024 human ensembl 70_37 +1 known missense c.979 p.E327Q 1.000 NULL NULL - no_errors TRAF3IP3 HGNC TRAF4 9618 genome.wustl.edu 37 17 27076945 27076945 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 27076945 27076945 G A SNP TRAF4 ENST00000444415 human ensembl 70_37 +1 novel missense c.1273 p.E425K 0.007 NULL pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC TRAF7 84231 genome.wustl.edu 37 16 2225536 2225536 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 2225536 2225536 G C SNP TRAF7 ENST00000326181 human ensembl 70_37 +1 known missense c.1539 p.K513N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC TRAT1 50852 genome.wustl.edu 37 3 108572683 108572683 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 108572683 108572683 C G SNP TRAT1 ENST00000295756 human ensembl 70_37 +1 known missense c.520 p.L174V 1.000 NULL NULL - no_errors TRAT1 HGNC TRIM27 5987 genome.wustl.edu 37 6 28875230 28875230 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 28875230 28875230 G A SNP TRIM27 ENST00000467742 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM27 HGNC TRIM61 391712 genome.wustl.edu 37 4 165890861 165890861 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 165890861 165890861 C G SNP TRIM61 ENST00000329314 human ensembl 70_37 -1 known missense c.294 p.K98N 0.833 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC TRIM68 55128 genome.wustl.edu 37 11 4623468 4623468 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 4623468 4623468 C T SNP TRIM68 ENST00000300747 human ensembl 70_37 -1 known missense c.697 p.E233K 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM68 HGNC TRIM9 114088 genome.wustl.edu 37 14 51561606 51561606 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 51561606 51561606 G A SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.52 p.R18W 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TRIO 7204 genome.wustl.edu 37 5 14290885 14290885 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 14290885 14290885 G A SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TRO 7216 genome.wustl.edu 37 X 54950074 54950074 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 54950074 54950074 C T SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1109 p.S370F 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC TROAP 10024 genome.wustl.edu 37 12 49724818 49724818 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 12 49724818 49724818 C G SNP TROAP ENST00000551245 human ensembl 70_37 +1 novel silent c.2190 p.L730 0.000 NULL NULL - no_errors TROAP HGNC TRPM2 7226 genome.wustl.edu 37 21 45815323 45815323 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 45815323 45815323 C T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known silent c.1821 p.L607 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC TRUB1 142940 genome.wustl.edu 37 10 116698257 116698257 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 116698257 116698257 C T SNP TRUB1 ENST00000298746 human ensembl 70_37 +1 known missense c.245 p.S82L 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC TSC2 7249 genome.wustl.edu 37 16 2129132 2129132 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 2129132 2129132 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3066 p.L1022 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSC2 7249 genome.wustl.edu 37 16 2129168 2129168 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 2129168 2129168 C G SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known silent c.3102 p.V1034 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSSC4 10078 genome.wustl.edu 37 11 2424570 2424570 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 2424570 2424570 G C SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.707 p.G236A 0.000 NULL NULL - no_errors TSSC4 HGNC TTC6 319089 genome.wustl.edu 37 14 38265554 38265554 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 14 38265554 38265554 C T SNP TTC6 ENST00000478811 human ensembl 70_37 +1 known nonsense c.40 p.Q14* 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC TTLL9 164395 genome.wustl.edu 37 20 30526994 30526994 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 30526994 30526994 G A SNP TTLL9 ENST00000375938 human ensembl 70_37 +1 known missense c.1168 p.D390N 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL9 HGNC TTN 7273 genome.wustl.edu 37 2 179507006 179507006 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 179507006 179507006 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.32812 p.E10938K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179542513 179542513 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 179542513 179542513 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.30394 p.E10132K 0.923 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UACA 55075 genome.wustl.edu 37 15 70961363 70961363 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 70961363 70961363 C T SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.1660 p.E554K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UBASH3B 84959 genome.wustl.edu 37 11 122665486 122665486 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 122665486 122665486 G A SNP UBASH3B ENST00000284273 human ensembl 70_37 +1 known missense c.1057 p.E353K 0.999 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC UBE2L6 9246 genome.wustl.edu 37 11 57321968 57321968 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 57321968 57321968 C T SNP UBE2L6 ENST00000287156 human ensembl 70_37 -1 known silent c.252 p.Q84 0.875 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC UBQLN1 29979 genome.wustl.edu 37 9 86292833 86292833 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 86292833 86292833 G A SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known missense c.914 p.S305F 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC UBQLN3 50613 genome.wustl.edu 37 11 5529679 5529679 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 11 5529679 5529679 G A SNP UBQLN3 ENST00000311659 human ensembl 70_37 -1 known silent c.1110 p.S370 0.066 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC UBR3 130507 genome.wustl.edu 37 2 170863551 170863551 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 170863551 170863551 C T SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.4081 p.P1361S 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC UGT3A2 167127 genome.wustl.edu 37 5 36039690 36039690 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 36039690 36039690 G A SNP UGT3A2 ENST00000282507 human ensembl 70_37 -1 known missense c.964 p.H322Y 0.012 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC UNC13A 23025 genome.wustl.edu 37 19 17716962 17716962 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 17716962 17716962 G C SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.5277 p.I1759M 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNC13A 23025 genome.wustl.edu 37 19 17751455 17751455 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 17751455 17751455 G A SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.2916 p.L972 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNCX 340260 genome.wustl.edu 37 7 1273250 1273250 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 1273250 1273250 G A SNP UNCX ENST00000316333 human ensembl 70_37 +1 known silent c.369 p.A123 0.994 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors UNCX HGNC URM1 81605 genome.wustl.edu 37 9 131151912 131151912 + RNA SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 131151912 131151912 G A SNP URM1 ENST00000483206 human ensembl 70_37 +1 known rna NULL NULL 0.127 - - - no_errors URM1 HGNC USP11 8237 genome.wustl.edu 37 X 47106535 47106535 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 47106535 47106535 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2464 p.E822K 0.993 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC USP20 10868 genome.wustl.edu 37 9 132637226 132637226 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 132637226 132637226 C G SNP USP20 ENST00000315480 human ensembl 70_37 +1 known silent c.2040 p.L680 0.990 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC USP42 84132 genome.wustl.edu 37 7 6154999 6154999 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 6154999 6154999 C G SNP USP42 ENST00000306177 human ensembl 70_37 +1 known missense c.287 p.S96C 0.979 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC USP48 84196 genome.wustl.edu 37 1 22055156 22055156 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 22055156 22055156 C G SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1357 p.E453Q 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC USP6 9098 genome.wustl.edu 37 17 5076112 5076112 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 5076112 5076112 G C SNP USP6 ENST00000250066 human ensembl 70_37 +1 known missense c.4060 p.D1354H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC USP6NL 9712 genome.wustl.edu 37 10 11505563 11505563 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 11505563 11505563 G A SNP USP6NL ENST00000277575 human ensembl 70_37 -1 known missense c.1415 p.S472L 0.003 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC UTRN 7402 genome.wustl.edu 37 6 145079123 145079123 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 145079123 145079123 C T SNP UTRN ENST00000367545 human ensembl 70_37 +1 known silent c.8493 p.I2831 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC VIT 5212 genome.wustl.edu 37 2 37035659 37035659 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 37035659 37035659 C T SNP VIT ENST00000379242 human ensembl 70_37 +1 known silent c.1434 p.S478 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC VN1R1 57191 genome.wustl.edu 37 19 57967165 57967165 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 57967165 57967165 C T SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.690 p.M230I 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC VPS13C 54832 genome.wustl.edu 37 15 62207973 62207973 + Silent SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 62207973 62207973 G C SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known silent c.8304 p.V2768 0.995 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS16 64601 genome.wustl.edu 37 20 2841412 2841412 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 20 2841412 2841412 C G SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known missense c.533 p.S178C 0.753 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC VPS18 57617 genome.wustl.edu 37 15 41192812 41192812 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 41192812 41192812 C T SNP VPS18 ENST00000220509 human ensembl 70_37 +1 known missense c.1796 p.S599L 1.000 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC VPS4A 27183 genome.wustl.edu 37 16 69352823 69352823 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 69352823 69352823 C G SNP VPS4A ENST00000254950 human ensembl 70_37 +1 known missense c.441 p.I147M 0.993 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC VPS9D1 9605 genome.wustl.edu 37 16 89785456 89785456 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 89785456 89785456 C G SNP VPS9D1 ENST00000389386 human ensembl 70_37 -1 known missense c.154 p.E52Q 1.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC VRK3 51231 genome.wustl.edu 37 19 50512551 50512551 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 50512551 50512551 G A SNP VRK3 ENST00000316763 human ensembl 70_37 -1 known silent c.231 p.F77 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors VRK3 HGNC VWA5B2 90113 genome.wustl.edu 37 3 183956658 183956658 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 183956658 183956658 C G SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.2199 p.F733L 0.999 NULL NULL - no_errors VWA5B2 HGNC VWA8 23078 genome.wustl.edu 37 13 42144794 42144794 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 13 42144794 42144794 C G SNP VWA8 ENST00000379310 human ensembl 70_37 -1 known missense c.5419 p.E1807Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC WASL 8976 genome.wustl.edu 37 7 123332690 123332690 + Nonsense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 123332690 123332690 G C SNP WASL ENST00000223023 human ensembl 70_37 -1 known nonsense c.1058 p.S353* 1.000 NULL pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC WBP2NL 164684 genome.wustl.edu 37 22 42423091 42423091 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 22 42423091 42423091 G A SNP WBP2NL ENST00000328823 human ensembl 70_37 +1 known missense c.836 p.G279E 0.000 NULL pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2NL HGNC WDR41 55255 genome.wustl.edu 37 5 76736643 76736643 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 76736643 76736643 C T SNP WDR41 ENST00000296679 human ensembl 70_37 -1 known missense c.877 p.E293K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC WDR44 54521 genome.wustl.edu 37 X 117528059 117528059 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 117528059 117528059 A G SNP WDR44 ENST00000254029 human ensembl 70_37 +1 known missense c.868 p.S290G 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC WDR46 9277 genome.wustl.edu 37 6 33246901 33246901 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 33246901 33246901 C T SNP WDR46 ENST00000461951 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors WDR46 HGNC WDR47 22911 genome.wustl.edu 37 1 109517212 109517212 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 109517212 109517212 G A SNP WDR47 ENST00000400794 human ensembl 70_37 -1 known missense c.2587 p.H863Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC WDR6 11180 genome.wustl.edu 37 3 49050363 49050363 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 49050363 49050363 G C SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.1486 p.E496Q 1.000 superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WHSC1 7468 genome.wustl.edu 37 4 1961446 1961446 + Silent SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 4 1961446 1961446 C G SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known silent c.3234 p.V1078 0.122 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC WIZ 58525 genome.wustl.edu 37 19 15551054 15551054 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 15551054 15551054 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.607 p.E203K 0.979 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WWC1 23286 genome.wustl.edu 37 5 167850938 167850938 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 5 167850938 167850938 G A SNP WWC1 ENST00000265293 human ensembl 70_37 +1 known missense c.1675 p.D559N 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC1 HGNC XIRP2 129446 genome.wustl.edu 37 2 168098385 168098385 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 2 168098385 168098385 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.1141 p.D381N 1.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XIST 7503 genome.wustl.edu 37 X 73069063 73069063 + RNA SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 73069063 73069063 A G SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors XIST HGNC ZBTB37 84614 genome.wustl.edu 37 1 173839814 173839814 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 173839814 173839814 G A SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ZBTB41 360023 genome.wustl.edu 37 1 197128956 197128956 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 197128956 197128956 G A SNP ZBTB41 ENST00000367405 human ensembl 70_37 -1 known missense c.2263 p.P755S 0.082 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ZC3H12B 340554 genome.wustl.edu 37 X 64722153 64722153 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 64722153 64722153 G A SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known silent c.1575 p.G525 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ZC3H18 124245 genome.wustl.edu 37 16 88697525 88697525 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88697525 88697525 C T SNP ZC3H18 ENST00000301011 human ensembl 70_37 +1 known missense c.2680 p.P894S 0.999 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ZFHX3 463 genome.wustl.edu 37 16 72845491 72845491 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 72845491 72845491 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.3849 p.E1283 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFP90 146198 genome.wustl.edu 37 16 68597358 68597358 + Missense_Mutation SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 68597358 68597358 G T SNP ZFP90 ENST00000398253 human ensembl 70_37 +1 known missense c.668 p.R223I 0.005 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 ZFP90 HGNC ZIC3 7547 genome.wustl.edu 37 X 136649738 136649738 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 136649738 136649738 C T SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known silent c.888 p.V296 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ZIC3 7547 genome.wustl.edu 37 X 136649777 136649777 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 136649777 136649777 C T SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known silent c.927 p.F309 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ZMAT1 84460 genome.wustl.edu 37 X 101139058 101139058 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 X 101139058 101139058 C T SNP ZMAT1 ENST00000372782 human ensembl 70_37 -1 known silent c.1341 p.E447 0.516 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ZNF18 7566 genome.wustl.edu 37 17 11895970 11895970 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 17 11895970 11895970 C T SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known silent c.177 p.L59 0.975 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ZNF180 7733 genome.wustl.edu 37 19 44982160 44982160 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 44982160 44982160 G A SNP ZNF180 ENST00000221327 human ensembl 70_37 -1 known nonsense c.538 p.Q180* 0.037 NULL 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 ZNF180 HGNC ZNF197 10168 genome.wustl.edu 37 3 44685487 44685487 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 44685487 44685487 G A SNP ZNF197 ENST00000344387 human ensembl 70_37 +1 known silent c.2865 p.E955 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ZNF274 10782 genome.wustl.edu 37 19 58718433 58718433 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58718433 58718433 G A SNP ZNF274 ENST00000326804 human ensembl 70_37 +1 known missense c.601 p.E201K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ZNF292 23036 genome.wustl.edu 37 6 87964650 87964650 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 6 87964650 87964650 G A SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.1303 p.V435I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ZBTB21 49854 genome.wustl.edu 37 21 43412056 43412056 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 43412056 43412056 C G SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.2149 p.E717Q 0.063 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ZBTB21 49854 genome.wustl.edu 37 21 43412124 43412124 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 21 43412124 43412124 C G SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.2081 p.G694A 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ZNF302 55900 genome.wustl.edu 37 19 35175249 35175249 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 35175249 35175249 G C SNP ZNF302 ENST00000423823 human ensembl 70_37 +1 known missense c.307 p.V103L 0.007 NULL 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 ZNF302 HGNC ZNF417 147687 genome.wustl.edu 37 19 58420610 58420610 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58420610 58420610 G C SNP ZNF417 ENST00000312026 human ensembl 70_37 -1 known missense c.1036 p.H346D 0.997 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 ZNF417 HGNC ZNF429 353088 genome.wustl.edu 37 19 21712561 21712561 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 21712561 21712561 G A SNP ZNF429 ENST00000597078 human ensembl 70_37 +1 putative silent c.105 p.E35 0.387 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ZNF429 353088 genome.wustl.edu 37 19 21720389 21720389 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 21720389 21720389 G A SNP ZNF429 ENST00000358491 human ensembl 70_37 +1 novel missense c.1534 p.E512K 0.019 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 ZNF429 HGNC ZSCAN32 54925 genome.wustl.edu 37 16 3434520 3434520 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 3434520 3434520 G A SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known silent c.1173 p.F391 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ZNF469 84627 genome.wustl.edu 37 16 88499969 88499969 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 88499969 88499969 G C SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.6007 p.E2003Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ZNF471 57573 genome.wustl.edu 37 19 57036445 57036445 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 57036445 57036445 C G SNP ZNF471 ENST00000308031 human ensembl 70_37 +1 known missense c.1009 p.Q337E 1.000 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 ZNF471 HGNC ZNF486 90649 genome.wustl.edu 37 19 20308812 20308812 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 20308812 20308812 G A SNP ZNF486 ENST00000335117 human ensembl 70_37 +1 known silent c.1293 p.E431 0.997 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 ZNF486 HGNC ZNF510 22869 genome.wustl.edu 37 9 99522049 99522049 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 9 99522049 99522049 G A SNP ZNF510 ENST00000223428 human ensembl 70_37 -1 known nonsense c.1063 p.Q355* 0.091 NULL 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 ZNF510 HGNC ZNF518A 9849 genome.wustl.edu 37 10 97922159 97922159 + RNA SNP G G T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 97922159 97922159 G T SNP ZNF518A ENST00000534948 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ZNF519 162655 genome.wustl.edu 37 18 14105020 14105020 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 14105020 14105020 G A SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known nonsense c.1519 p.Q507* 0.888 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 ZNF519 HGNC ZNF519 162655 genome.wustl.edu 37 18 14105110 14105110 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 18 14105110 14105110 G A SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known nonsense c.1429 p.Q477* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ZNF527 84503 genome.wustl.edu 37 19 37862022 37862022 + RNA SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 37862022 37862022 C T SNP ZNF527 ENST00000589615 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors ZNF527 HGNC ZNF567 163081 genome.wustl.edu 37 19 37211354 37211354 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 37211354 37211354 C T SNP ZNF567 ENST00000536254 human ensembl 70_37 +1 known silent c.1728 p.L576 0.289 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 ZNF567 HGNC ZNF593 51042 genome.wustl.edu 37 1 26496564 26496564 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 26496564 26496564 G C SNP ZNF593 ENST00000374266 human ensembl 70_37 +1 known missense c.90 p.E30D 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF593 HGNC ZNF596 169270 genome.wustl.edu 37 8 183047 183047 + RNA SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 8 183047 183047 G C SNP ZNF596 ENST00000521238 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZNF596 HGNC ZNF615 284370 genome.wustl.edu 37 19 52496447 52496447 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 52496447 52496447 C T SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.1915 p.E639K 0.063 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 ZNF615 HGNC ZNF646 9726 genome.wustl.edu 37 16 31091918 31091918 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31091918 31091918 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.4273 p.P1425A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF646 9726 genome.wustl.edu 37 16 31092086 31092086 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31092086 31092086 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.4441 p.Q1481E 0.079 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF646 9726 genome.wustl.edu 37 16 31092798 31092798 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 16 31092798 31092798 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.5153 p.S1718C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF69 7620 genome.wustl.edu 37 19 12016506 12016506 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 12016506 12016506 C G SNP ZNF69 ENST00000429654 human ensembl 70_37 +1 known missense c.1294 p.Q432E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ZNF746 155061 genome.wustl.edu 37 7 149172453 149172453 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 149172453 149172453 G A SNP ZNF746 ENST00000458143 human ensembl 70_37 -1 known silent c.960 p.F320 0.018 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ZNF770 54989 genome.wustl.edu 37 15 35274573 35274573 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 15 35274573 35274573 G A SNP ZNF770 ENST00000356321 human ensembl 70_37 -1 known nonsense c.1063 p.Q355* 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ZNF8 7554 genome.wustl.edu 37 19 58806608 58806608 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 58806608 58806608 G C SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.1434 p.Q478H 0.967 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 ZNF8 HGNC ZNF80 7634 genome.wustl.edu 37 3 113955149 113955149 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 3 113955149 113955149 G A SNP ZNF80 ENST00000308095 human ensembl 70_37 -1 known missense c.773 p.S258F 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ZNF804B 219578 genome.wustl.edu 37 7 88965996 88965996 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 88965996 88965996 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.3700 p.H1234Y 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF804B 219578 genome.wustl.edu 37 7 88966146 88966146 + Nonsense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 88966146 88966146 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known nonsense c.3850 p.Q1284* 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF841 284371 genome.wustl.edu 37 19 52579301 52579301 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 52579301 52579301 G A SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known silent c.267 p.I89 0.000 NULL 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 ZNF841 HGNC ZNF845 91664 genome.wustl.edu 37 19 53855572 53855572 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 53855572 53855572 G A SNP ZNF845 ENST00000458035 human ensembl 70_37 +1 known silent c.1644 p.E548 0.998 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 ZNF845 HGNC ZNF85 7639 genome.wustl.edu 37 19 21131586 21131586 + Missense_Mutation SNP A A G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 21131586 21131586 A G SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.266 p.E89G 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ZNF92 168374 genome.wustl.edu 37 7 64863368 64863368 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 64863368 64863368 G A SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known missense c.341 p.R114K 0.618 NULL 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 ZNF92 HGNC ZNF93 81931 genome.wustl.edu 37 19 20044654 20044654 + Missense_Mutation SNP C C A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 19 20044654 20044654 C A SNP ZNF93 ENST00000343769 human ensembl 70_37 +1 known missense c.890 p.S297Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF93 HGNC ZPBP 11055 genome.wustl.edu 37 7 50097646 50097646 + Silent SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 7 50097646 50097646 G A SNP ZPBP ENST00000046087 human ensembl 70_37 -1 known silent c.426 p.L142 0.151 pfam_Sp38-bd,pfscan_Ig-like pfam_Sp38-bd,pfscan_Ig-like - no_errors ZPBP HGNC ZRANB1 54764 genome.wustl.edu 37 10 126673446 126673446 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 126673446 126673446 G A SNP ZRANB1 ENST00000359653 human ensembl 70_37 +1 known missense c.2012 p.R671Q 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ZSWIM8 23053 genome.wustl.edu 37 10 75545731 75545731 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 10 75545731 75545731 C T SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known missense c.95 p.S32F 0.998 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ZYG11B 79699 genome.wustl.edu 37 1 53222190 53222190 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 53222190 53222190 G C SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.91 p.E31Q 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11B HGNC ZYG11B 79699 genome.wustl.edu 37 1 53279239 53279239 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 262dcf4f-13c0-489e-a4c8-060e2eeaa8d7 bbc15cac-a3bb-4f25-beec-37c43caeeed1 1 53279239 53279239 C T SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.1727 p.S576F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC