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 ACBD4 79777 genome.wustl.edu 37 17 43214086 43214086 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 43214086 43214086 G A SNP ACBD4 ENST00000431281 human ensembl 70_37 +1 known missense c.237 p.M79I 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 128887582 128887582 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 128887582 128887582 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.1336 p.E446K 1.000 pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ADAMTS3 9508 genome.wustl.edu 37 4 73205317 73205317 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 73205317 73205317 C G SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.755 p.G252A 0.994 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ALOX15B 247 genome.wustl.edu 37 17 7948588 7948588 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 7948588 7948588 C G SNP ALOX15B ENST00000380183 human ensembl 70_37 +1 known missense c.882 p.I294M 0.210 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC APBB1 322 genome.wustl.edu 37 11 6417049 6417049 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 6417049 6417049 G A SNP APBB1 ENST00000389906 human ensembl 70_37 -1 known silent c.1932 p.A644 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC APH1A 51107 genome.wustl.edu 37 1 150241157 150241157 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 150241157 150241157 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known silent c.54 p.F18 0.997 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ARHGAP6 395 genome.wustl.edu 37 X 11157630 11157630 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 11157630 11157630 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.2278 p.E760K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARMC1 55156 genome.wustl.edu 37 8 66525572 66525572 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 66525572 66525572 C T SNP ARMC1 ENST00000276569 human ensembl 70_37 -1 known missense c.372 p.M124I 1.000 pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ARSD 414 genome.wustl.edu 37 X 2825157 2825158 + RNA INS - - AAAA TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 2825157 2825158 - AAAA INS ARSD ENST00000495294 human ensembl 70_37 -1 known rna NULL NULL 0.277:0.277 - - - no_errors ARSD HGNC ATF4 468 genome.wustl.edu 37 22 39917809 39917809 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 22 39917809 39917809 G A SNP ATF4 ENST00000337304 human ensembl 70_37 +1 known silent c.258 p.L86 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ATG4A 115201 genome.wustl.edu 37 X 107397094 107397094 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 107397094 107397094 C G SNP ATG4A ENST00000489247 human ensembl 70_37 +1 putative rna NULL NULL 0.904 - - - no_errors ATG4A HGNC BRE 9577 genome.wustl.edu 37 2 28521339 28521339 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 28521339 28521339 G C SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.1069 p.E357Q 1.000 NULL pfam_Brain/reproduct-express_prot - no_errors BRE HGNC BTBD11 121551 genome.wustl.edu 37 12 108012145 108012145 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 108012145 108012145 C G SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known missense c.2442 p.I814M 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC C14orf166 51637 genome.wustl.edu 37 14 52466482 52466482 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 52466482 52466482 C T SNP C14orf166 ENST00000261700 human ensembl 70_37 +1 known nonsense c.430 p.Q144* 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC C14orf39 317761 genome.wustl.edu 37 14 60945022 60945022 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 60945022 60945022 C G SNP C14orf39 ENST00000321731 human ensembl 70_37 -1 known missense c.319 p.D107H 1.000 NULL NULL - no_errors C14orf39 HGNC C2orf16 84226 genome.wustl.edu 37 2 27802554 27802554 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 27802554 27802554 G A SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.3115 p.D1039N 0.000 NULL NULL - no_errors C2orf16 HGNC CALM1 801 genome.wustl.edu 37 14 90870837 90870837 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 90870837 90870837 G A SNP CALM1 ENST00000356978 human ensembl 70_37 +1 known missense c.400 p.D134N 1.000 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM1 HGNC CAMK2N2 94032 genome.wustl.edu 37 3 183978917 183978917 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 183978917 183978917 G A SNP CAMK2N2 ENST00000296238 human ensembl 70_37 -1 known nonsense c.157 p.R53* 1.000 NULL NULL - no_errors CAMK2N2 HGNC CASZ1 54897 genome.wustl.edu 37 1 10720517 10720517 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 10720517 10720517 C T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.582 p.Q194 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CATSPERD 257062 genome.wustl.edu 37 19 5729891 5729891 + Frame_Shift_Del DEL T T - TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 5729891 5729891 T - DEL CATSPERD ENST00000381624 human ensembl 70_37 +1 known frame_shift_del c.212 p.F73fs 0.840 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC CD22 933 genome.wustl.edu 37 19 35836524 35836524 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 35836524 35836524 C G SNP CD22 ENST00000085219 human ensembl 70_37 +1 known missense c.2228 p.S743C 0.001 NULL pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC CLIP2 7461 genome.wustl.edu 37 7 73814818 73814818 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 73814818 73814818 C T SNP CLIP2 ENST00000223398 human ensembl 70_37 +1 known missense c.2999 p.A1000V 0.973 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC CNTNAP3B 728577 genome.wustl.edu 37 9 43818172 43818172 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 43818172 43818172 G C SNP CNTNAP3B ENST00000377564 human ensembl 70_37 +1 known missense c.1059 p.Q353H 1.000 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC COL4A5 1287 genome.wustl.edu 37 X 107683385 107683385 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 107683385 107683385 C T SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.30 p.A10 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC CPT1C 126129 genome.wustl.edu 37 19 50204795 50204795 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 50204795 50204795 C T SNP CPT1C ENST00000323446 human ensembl 70_37 +1 known silent c.597 p.F199 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC CROCCP2 84809 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC CRYBG3 131544 genome.wustl.edu 37 3 97655689 97655689 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 97655689 97655689 G A SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known silent c.2598 p.E866 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC CSAG4 100130935 genome.wustl.edu 37 X 151896142 151896142 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 151896142 151896142 G A SNP CSAG4 ENST00000361201 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC CSF1R 1436 genome.wustl.edu 37 5 149453030 149453030 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 149453030 149453030 C G SNP CSF1R ENST00000286301 human ensembl 70_37 -1 known missense c.916 p.E306Q 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors CSF1R HGNC CSMD2 114784 genome.wustl.edu 37 1 34076831 34076831 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 34076831 34076831 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.6153 p.L2051 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 CSMD2 HGNC CTAGE4 100128553 genome.wustl.edu 37 7 143881197 143881197 + Missense_Mutation SNP A A G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 143881197 143881197 A G SNP CTAGE4 ENST00000486333 human ensembl 70_37 +1 known missense c.601 p.S201G 0.036 superfamily_tRNA-bd_arm superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC CUBN 8029 genome.wustl.edu 37 10 16957870 16957870 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 16957870 16957870 G A SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.7160 p.S2387F 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CYP2B6 1555 genome.wustl.edu 37 19 41522627 41522627 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 41522627 41522627 C T SNP CYP2B6 ENST00000324071 human ensembl 70_37 +1 known silent c.1371 p.F457 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC DENND2A 27147 genome.wustl.edu 37 7 140273623 140273623 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 140273623 140273623 C T SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known silent c.1431 p.K477 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC DGKI 9162 genome.wustl.edu 37 7 137294339 137294339 + Nonsense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 137294339 137294339 G C SNP DGKI ENST00000424189 human ensembl 70_37 -1 known nonsense c.1010 p.S337* 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC DHX57 90957 genome.wustl.edu 37 2 39088417 39088417 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 39088417 39088417 C T SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.1135 p.E379K 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC DHX57 90957 genome.wustl.edu 37 2 39088645 39088645 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 39088645 39088645 C T SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.907 p.E303K 0.974 pfam_RWD-domain,pfam_Znf_CCCH,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC DIRC2 84925 genome.wustl.edu 37 3 122598136 122598136 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 122598136 122598136 C T SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.1348 p.P450S 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DMBT1 1755 genome.wustl.edu 37 10 124348625 124348625 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 124348625 124348625 C A SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known nonsense c.1949 p.S650* 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DNAH17 8632 genome.wustl.edu 37 17 76497914 76497914 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 76497914 76497914 G A SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.5199 p.N1733 0.121 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH17 8632 genome.wustl.edu 37 17 76501416 76501416 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 76501416 76501416 C T SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.4903 p.E1635K 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH5 1767 genome.wustl.edu 37 5 13900383 13900383 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 13900383 13900383 C T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.2191 p.V731I 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAJC8 22826 genome.wustl.edu 37 1 28555487 28555487 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 28555487 28555487 C G SNP DNAJC8 ENST00000263697 human ensembl 70_37 -1 known missense c.126 p.Q42H 1.000 superfamily_DnaJ_N pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC8 HGNC DPY19L2P1 554236 genome.wustl.edu 37 7 35131356 35131357 + RNA DEL TG TG - TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 35131356 35131357 TG - DEL DPY19L2P1 ENST00000436258 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DPY19L2P1 HGNC E2F5 1875 genome.wustl.edu 37 8 86127142 86127142 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 86127142 86127142 C T SNP E2F5 ENST00000519128 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors E2F5 HGNC EBF4 57593 genome.wustl.edu 37 20 2688657 2688657 + Missense_Mutation SNP T T C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 2688657 2688657 T C SNP EBF4 ENST00000449079 human ensembl 70_37 +1 known missense c.779 p.I260T 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF4 HGNC EDC3 80153 genome.wustl.edu 37 15 74963937 74963937 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 15 74963937 74963937 G C SNP EDC3 ENST00000315127 human ensembl 70_37 -1 known missense c.343 p.Q115E 1.000 NULL pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ELOVL5 60481 genome.wustl.edu 37 6 53156762 53156762 + Splice_Site SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 53156762 53156762 C G SNP ELOVL5 ENST00000541407 human ensembl 70_37 -1 known splice_site c.59-1 e2-1 1.000 - - - no_errors ELOVL5 HGNC ENGASE 64772 genome.wustl.edu 37 17 77077040 77077040 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 77077040 77077040 C T SNP ENGASE ENST00000579016 human ensembl 70_37 +1 known missense c.757 p.R253W 0.998 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000238261 0 genome.wustl.edu 37 1 143398981 143398981 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 143398981 143398981 G A SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX004987.5 Clone_based_vega_gene EPHA4 2043 genome.wustl.edu 37 2 222307723 222307723 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 222307723 222307723 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known missense c.1900 p.E634K 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA4 HGNC EVI5 7813 genome.wustl.edu 37 1 93159886 93159886 + Silent SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 93159886 93159886 C G SNP EVI5 ENST00000543509 human ensembl 70_37 -1 known silent c.1101 p.L367 0.999 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC EXOC8 149371 genome.wustl.edu 37 1 231472604 231472604 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 231472604 231472604 C T SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known silent c.888 p.A296 0.002 NULL pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC FAM171A1 221061 genome.wustl.edu 37 10 15255945 15255945 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 15255945 15255945 G A SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.1642 p.L548F 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC KIF9-AS1 285352 genome.wustl.edu 37 3 47284477 47284477 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 47284477 47284477 C G SNP FLJ39534 ENST00000429315 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-447D11.2 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153580315 153580315 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 153580315 153580315 C T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.6844 p.E2282K 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 GAL 51083 genome.wustl.edu 37 11 68455487 68455487 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 68455487 68455487 G T SNP GAL ENST00000265643 human ensembl 70_37 +1 known missense c.142 p.V48F 0.001 pfam_Galanin,smart_Galanin_pre,prints_Galanin pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin - no_errors GAL HGNC GEMIN5 25929 genome.wustl.edu 37 5 154272068 154272068 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 154272068 154272068 C T SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known silent c.3639 p.L1213 1.000 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 GEMIN5 HGNC GGH 8836 genome.wustl.edu 37 8 63948246 63948246 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 63948246 63948246 C G SNP GGH ENST00000260118 human ensembl 70_37 -1 known missense c.193 p.E65Q 1.000 pfam_Peptidase_C26,pfam_GATASE_1 pfam_Peptidase_C26,pfam_GATASE_1 - no_errors GGH HGNC GOT2 2806 genome.wustl.edu 37 16 58752559 58752559 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 58752559 58752559 G C SNP GOT2 ENST00000245206 human ensembl 70_37 -1 known missense c.469 p.L157V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT2 HGNC GPATCH8 23131 genome.wustl.edu 37 17 42475272 42475272 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 42475272 42475272 G A SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known silent c.4173 p.I1391 0.991 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GPR116 221395 genome.wustl.edu 37 6 46828610 46828610 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 46828610 46828610 G C SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.2221 p.Q741E 0.990 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC HELZ 9931 genome.wustl.edu 37 17 65134104 65134104 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 65134104 65134104 C G SNP HELZ ENST00000358691 human ensembl 70_37 -1 known missense c.2896 p.E966Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC HIPK4 147746 genome.wustl.edu 37 19 40890035 40890035 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 40890035 40890035 G A SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.477 p.F159 0.818 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 HIPK4 HGNC HK3 3101 genome.wustl.edu 37 5 176314515 176314515 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 176314515 176314515 G A SNP HK3 ENST00000292432 human ensembl 70_37 -1 known nonsense c.1537 p.R513* 0.039 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC HSP90AB1 3326 genome.wustl.edu 37 6 44218333 44218333 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 44218333 44218333 C T SNP HSP90AB1 ENST00000353801 human ensembl 70_37 +1 known silent c.954 p.V318 1.000 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors HSP90AB1 HGNC IGDCC3 9543 genome.wustl.edu 37 15 65621255 65621255 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 15 65621255 65621255 C T SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.2437 p.E813K 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC IGLL5 100423062 genome.wustl.edu 37 22 23237847 23237847 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 22 23237847 23237847 G T SNP IGLL5 ENST00000532223 human ensembl 70_37 +1 known missense c.621 p.K207N 0.885 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors IGLL5 HGNC IL13RA2 3598 genome.wustl.edu 37 X 114245323 114245323 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 114245323 114245323 C T SNP IL13RA2 ENST00000243213 human ensembl 70_37 -1 known missense c.590 p.C197Y 0.991 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC IL1R1 3554 genome.wustl.edu 37 2 102793102 102793102 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 102793102 102793102 G A SNP IL1R1 ENST00000233946 human ensembl 70_37 +1 known nonsense c.1593 p.W531* 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1R1 HGNC IFNL3 282617 genome.wustl.edu 37 19 39735130 39735130 + Missense_Mutation SNP T T A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 39735130 39735130 T A SNP IL28B ENST00000413851 human ensembl 70_37 -1 known missense c.185 p.E62V 0.035 NULL NULL - no_errors IL28B HGNC IRAK1 3654 genome.wustl.edu 37 X 153282519 153282519 + Splice_Site SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 153282519 153282519 C T SNP IRAK1 ENST00000369980 human ensembl 70_37 -1 known splice_site c.910-1 e8-1 0.004 - - - no_errors IRAK1 HGNC KAT6A 7994 genome.wustl.edu 37 8 41906386 41906386 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 41906386 41906386 G T SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.110 p.S37Y 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC KAT8 84148 genome.wustl.edu 37 16 31141434 31141434 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 31141434 31141434 G C SNP KAT8 ENST00000448516 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.999 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC KCNB1 3745 genome.wustl.edu 37 20 47989992 47989992 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 47989992 47989992 G A SNP KCNB1 ENST00000371741 human ensembl 70_37 -1 known missense c.2105 p.A702V 0.910 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC KCNQ5 56479 genome.wustl.edu 37 6 73904187 73904187 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 73904187 73904187 G A SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known missense c.1879 p.E627K 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC KIF4B 285643 genome.wustl.edu 37 5 154393426 154393426 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 154393426 154393426 G A SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC KLHL42 57542 genome.wustl.edu 37 12 27944650 27944650 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 27944650 27944650 C G SNP KLHDC5 ENST00000381271 human ensembl 70_37 +1 known missense c.882 p.F294L 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHDC5 HGNC KLHL2 11275 genome.wustl.edu 37 4 166235222 166235222 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 166235222 166235222 G C SNP KLHL2 ENST00000226725 human ensembl 70_37 +1 known missense c.1513 p.D505H 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL2 HGNC KRTAP9-8 83901 genome.wustl.edu 37 17 39394399 39394399 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 39394399 39394399 C G SNP KRTAP9-8 ENST00000254072 human ensembl 70_37 +1 known missense c.96 p.C32W 0.772 NULL NULL - no_errors KRTAP9-8 HGNC KSR1 8844 genome.wustl.edu 37 17 25932695 25932695 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 25932695 25932695 G A SNP KSR1 ENST00000319524 human ensembl 70_37 +1 known missense c.1916 p.R639H 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,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC LAMB2 3913 genome.wustl.edu 37 3 49160436 49160436 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 49160436 49160436 C G SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.4274 p.G1425A 1.000 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 LIG4 3981 genome.wustl.edu 37 13 108861152 108861152 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 108861152 108861152 G A SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.2465 p.S822L 0.039 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LMTK3 114783 genome.wustl.edu 37 19 49004787 49004787 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 49004787 49004787 G C SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.914 p.S305C 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,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 LMTK3 HGNC LOC100131825 100131825 genome.wustl.edu 37 1 159170740 159170740 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 159170740 159170740 C T SNP LOC100131825 ENST00000415675 human ensembl 70_37 -1 known rna NULL NULL 0.796 - - - no_errors CTA-134P22.2 Clone_based_vega_gene LOC81691 81691 genome.wustl.edu 37 16 20857632 20857632 + Silent SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 20857632 20857632 C G SNP LOC81691 ENST00000261377 human ensembl 70_37 +1 known silent c.2214 p.L738 0.997 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene LPGAT1 9926 genome.wustl.edu 37 1 211952327 211952327 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 211952327 211952327 C T SNP LPGAT1 ENST00000366996 human ensembl 70_37 -1 known missense c.787 p.E263K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPGAT1 HGNC LYPD5 284348 genome.wustl.edu 37 19 44302644 44302644 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 44302644 44302644 C G SNP LYPD5 ENST00000377950 human ensembl 70_37 -1 known missense c.480 p.Q160H 0.939 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYPD5 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140994898 140994898 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 140994898 140994898 C T SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known nonsense c.1708 p.Q570* 0.336 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAP7D2 256714 genome.wustl.edu 37 X 20033420 20033420 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 20033420 20033420 C A SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.1670 p.R557L 1.000 pfam_E-MAP-115 pfam_E-MAP-115 - no_errors MAP7D2 HGNC MCHR2 84539 genome.wustl.edu 37 6 100368918 100368918 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 100368918 100368918 G A SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known silent c.921 p.I307 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC MED23 9439 genome.wustl.edu 37 6 131908764 131908764 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 131908764 131908764 G A SNP MED23 ENST00000479213 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC KMT2E 55904 genome.wustl.edu 37 7 104753145 104753145 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 104753145 104753145 C T SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known nonsense c.4942 p.Q1648* 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC MORC3 23515 genome.wustl.edu 37 21 37741397 37741397 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 21 37741397 37741397 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.1731 p.V577 0.998 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MORC3 23515 genome.wustl.edu 37 21 37741838 37741838 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 21 37741838 37741838 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.2172 p.I724 0.020 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MUC17 140453 genome.wustl.edu 37 7 100675897 100675897 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 100675897 100675897 C T SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.1200 p.V400 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUM1 84939 genome.wustl.edu 37 19 1360225 1360225 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 1360225 1360225 C T SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.308 p.S103L 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC MUM1 84939 genome.wustl.edu 37 19 1360624 1360624 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 1360624 1360624 C T SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.707 p.S236L 0.001 NULL pfam_PWWP - no_errors MUM1 HGNC MXRA5 25878 genome.wustl.edu 37 X 3238287 3238287 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 3238287 3238287 C G SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.5439 p.Q1813H 0.010 NULL 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 MYEOV 26579 genome.wustl.edu 37 11 69062904 69062904 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 69062904 69062904 C T SNP MYEOV ENST00000308946 human ensembl 70_37 +1 known missense c.83 p.S28F 0.000 NULL NULL - no_errors MYEOV HGNC MYH10 4628 genome.wustl.edu 37 17 8395749 8395749 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 8395749 8395749 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.4507 p.E1503Q 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYLK3 91807 genome.wustl.edu 37 16 46746648 46746648 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 46746648 46746648 G A SNP MYLK3 ENST00000394809 human ensembl 70_37 -1 known missense c.2026 p.P676S 0.996 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 MYLK3 HGNC MYOF 26509 genome.wustl.edu 37 10 95113616 95113616 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 95113616 95113616 C T SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.3433 p.V1145I 0.869 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC MYSM1 114803 genome.wustl.edu 37 1 59147737 59147737 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 59147737 59147737 C G SNP MYSM1 ENST00000472487 human ensembl 70_37 -1 known missense c.979 p.D327H 0.000 NULL pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC NALCN 259232 genome.wustl.edu 37 13 102029363 102029363 + Silent SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 102029363 102029363 G T SNP NALCN ENST00000251127 human ensembl 70_37 -1 known silent c.420 p.G140 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC NAV1 89796 genome.wustl.edu 37 1 201757712 201757712 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 201757712 201757712 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.3112 p.E1038K 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NCOA3 8202 genome.wustl.edu 37 20 46265142 46265142 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 46265142 46265142 C G SNP NCOA3 ENST00000371998 human ensembl 70_37 +1 known missense c.2012 p.S671C 1.000 pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA3 HGNC NDC80 10403 genome.wustl.edu 37 18 2577797 2577797 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 18 2577797 2577797 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.232 p.E78Q 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC NDC80 10403 genome.wustl.edu 37 18 2579017 2579017 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 18 2579017 2579017 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.568 p.D190H 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC NF1P4 100419029 genome.wustl.edu 37 14 19488869 19488869 + RNA SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 19488869 19488869 G C SNP NF1P4 ENST00000548793 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NF1P4 HGNC NKD1 85407 genome.wustl.edu 37 16 50667159 50667159 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 50667159 50667159 C T SNP NKD1 ENST00000268459 human ensembl 70_37 +1 known nonsense c.880 p.R294* 0.543 NULL pfscan_EF_HAND_2 - no_errors NKD1 HGNC NLGN3 54413 genome.wustl.edu 37 X 70367612 70367613 + Frame_Shift_Ins INS - - T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 70367612 70367613 - T INS NLGN3 ENST00000358741 human ensembl 70_37 +1 known frame_shift_ins c.13_14 p.G6fs 0.999:0.999 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC NOMO2 283820 genome.wustl.edu 37 16 18542930 18542930 + Splice_Site SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 18542930 18542930 C T SNP NOMO2 ENST00000381474 human ensembl 70_37 -1 known splice_site c.1396-1 e13-1 1.000 - - - no_errors NOMO2 HGNC NOS1 4842 genome.wustl.edu 37 12 117658014 117658014 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 117658014 117658014 C A SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known nonsense c.4036 p.E1346* 1.000 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC NR1H4 9971 genome.wustl.edu 37 12 100904813 100904813 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 100904813 100904813 C T SNP NR1H4 ENST00000551379 human ensembl 70_37 +1 known missense c.367 p.R123C 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC OARD1 221443 genome.wustl.edu 37 6 41036673 41036673 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 41036673 41036673 G A SNP OARD1 ENST00000424266 human ensembl 70_37 -1 known missense c.263 p.S88L 0.974 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,smart_A1pp,pfscan_A1pp - no_errors OARD1 HGNC OGN 4969 genome.wustl.edu 37 9 95155461 95155461 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 95155461 95155461 C T SNP OGN ENST00000262551 human ensembl 70_37 -1 known missense c.334 p.D112N 0.993 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC OSGIN2 734 genome.wustl.edu 37 8 90937101 90937101 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 90937101 90937101 G C SNP OSGIN2 ENST00000451899 human ensembl 70_37 +1 known missense c.991 p.E331Q 1.000 NULL NULL - no_errors OSGIN2 HGNC PARP14 54625 genome.wustl.edu 37 3 122399840 122399840 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 122399840 122399840 C T SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.110 p.S37L 0.529 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PARP9 83666 genome.wustl.edu 37 3 122259323 122259323 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 122259323 122259323 C T SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known silent c.1866 p.S622 0.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC PCBP3 54039 genome.wustl.edu 37 21 47337528 47337528 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 21 47337528 47337528 C A SNP PCBP3 ENST00000400314 human ensembl 70_37 +1 known silent c.702 p.A234 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC PCDHA10 56139 genome.wustl.edu 37 5 140236854 140236854 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 140236854 140236854 G A SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known silent c.1221 p.V407 0.902 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 PCDHA10 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140605248 140605248 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 140605248 140605248 G A SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.2171 p.R724H 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC PCDHB2 56133 genome.wustl.edu 37 5 140475758 140475758 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 140475758 140475758 G A SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.1384 p.V462I 0.022 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC PDE4A 5141 genome.wustl.edu 37 19 10572231 10572231 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 10572231 10572231 G A SNP PDE4A ENST00000352831 human ensembl 70_37 +1 known missense c.1495 p.E499K 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC PDLIM5 10611 genome.wustl.edu 37 4 95444929 95444929 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 95444929 95444929 C G SNP PDLIM5 ENST00000317968 human ensembl 70_37 +1 known missense c.151 p.L51V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC PFDN6 10471 genome.wustl.edu 37 6 33258518 33258518 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 33258518 33258518 G A SNP PFDN6 ENST00000374606 human ensembl 70_37 +1 known missense c.286 p.D96N 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN6 HGNC PHF8 23133 genome.wustl.edu 37 X 54022200 54022200 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 54022200 54022200 C T SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.1357 p.E453K 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC PHKG2 5261 genome.wustl.edu 37 16 30764777 30764777 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 30764777 30764777 G A SNP PHKG2 ENST00000563588 human ensembl 70_37 +1 known missense c.455 p.R152Q 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,prints_Ser-Thr/Tyr_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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC PITPNM2 57605 genome.wustl.edu 37 12 123494554 123494554 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 123494554 123494554 G A SNP PITPNM2 ENST00000320201 human ensembl 70_37 -1 known silent c.486 p.F162 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC PKD1 5310 genome.wustl.edu 37 16 2158464 2158464 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 2158464 2158464 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.6704 p.S2235L 1.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKP3 11187 genome.wustl.edu 37 11 399985 399985 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 399985 399985 C T SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.1292 p.S431L 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC PLXDC2 84898 genome.wustl.edu 37 10 20466004 20466004 + Silent SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 20466004 20466004 G T SNP PLXDC2 ENST00000377252 human ensembl 70_37 +1 known silent c.960 p.V320 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like - no_errors PLXDC2 HGNC PRKCSH 5589 genome.wustl.edu 37 19 11557090 11557090 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 11557090 11557090 C A SNP PRKCSH ENST00000252455 human ensembl 70_37 +1 known silent c.687 p.V229 0.833 pfscan_EF_HAND_2 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_HAND_2 - no_errors PRKCSH HGNC PROKR2 128674 genome.wustl.edu 37 20 5294782 5294782 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 20 5294782 5294782 G A SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known silent c.234 p.L78 0.193 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC PTPN3 5774 genome.wustl.edu 37 9 112200443 112200443 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 112200443 112200443 G C SNP PTPN3 ENST00000374541 human ensembl 70_37 -1 known missense c.538 p.Q180E 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN3 HGNC PXDN 7837 genome.wustl.edu 37 2 1680739 1680739 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 1680739 1680739 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.808 p.E270K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC RAB14 51552 genome.wustl.edu 37 9 123952910 123952910 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 123952910 123952910 C G SNP RAB14 ENST00000373840 human ensembl 70_37 -1 known missense c.206 p.G69A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,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,pfam_Gtr1_RagA,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 RAB14 HGNC RARB 5915 genome.wustl.edu 37 3 25637933 25637933 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 25637933 25637933 G C SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.1194 p.L398F 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC RCE1 9986 genome.wustl.edu 37 11 66612502 66612502 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 66612502 66612502 G C SNP RCE1 ENST00000309657 human ensembl 70_37 +1 known missense c.614 p.G205A 1.000 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC RHOBTB1 9886 genome.wustl.edu 37 10 62632020 62632020 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 62632020 62632020 C T SNP RHOBTB1 ENST00000337910 human ensembl 70_37 -1 known nonsense c.1844 p.W615* 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC RHOU 58480 genome.wustl.edu 37 1 228871718 228871718 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 228871718 228871718 G A SNP RHOU ENST00000366691 human ensembl 70_37 +1 known missense c.229 p.E77K 0.999 pfam_Small_GTPase,pfam_MIRO-like,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,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 RHOU HGNC RNF115 27246 genome.wustl.edu 37 1 145650536 145650536 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 145650536 145650536 C T SNP RNF115 ENST00000369291 human ensembl 70_37 +1 known missense c.215 p.A72V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF115 HGNC RNF126 55658 genome.wustl.edu 37 19 648229 648229 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 648229 648229 C A SNP RNF126 ENST00000292363 human ensembl 70_37 -1 known missense c.835 p.A279S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC RNF19A 25897 genome.wustl.edu 37 8 101273866 101273866 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 101273866 101273866 C T SNP RNF19A ENST00000341084 human ensembl 70_37 -1 known missense c.1586 p.R529Q 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC RNF6 6049 genome.wustl.edu 37 13 26788558 26788558 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 26788558 26788558 G A SNP RNF6 ENST00000346166 human ensembl 70_37 -1 known silent c.1461 p.I487 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21788328 21788328 + Nonsense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 21788328 21788328 C T SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known nonsense c.1459 p.Q487* 0.015 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPS4X 6191 genome.wustl.edu 37 X 71495568 71495568 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 71495568 71495568 G A SNP RPS4X ENST00000316084 human ensembl 70_37 -1 known missense c.88 p.R30C 1.000 pfam_Ribosomal_S4e_N,pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC RUFY4 285180 genome.wustl.edu 37 2 218940282 218940282 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 218940282 218940282 G A SNP RUFY4 ENST00000374155 human ensembl 70_37 +1 known missense c.1127 p.G376E 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run - no_errors RUFY4 HGNC SAMD4A 23034 genome.wustl.edu 37 14 55203957 55203957 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 55203957 55203957 C G SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.931 p.Q311E 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC SEPT12 124404 genome.wustl.edu 37 16 4836063 4836063 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 4836063 4836063 G C SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known missense c.210 p.F70L 1.000 pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC SERPING1 710 genome.wustl.edu 37 11 57369616 57369616 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 57369616 57369616 C T SNP SERPING1 ENST00000278407 human ensembl 70_37 +1 known missense c.659 p.S220L 0.041 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC SH2D3A 10045 genome.wustl.edu 37 19 6755149 6755149 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 6755149 6755149 G C SNP SH2D3A ENST00000245908 human ensembl 70_37 -1 known missense c.674 p.S225C 0.297 superfamily_Ras_GEF_dom pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC SH3GL1 6455 genome.wustl.edu 37 19 4361723 4361723 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 4361723 4361723 G A SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known silent c.981 p.F327 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC SLC22A2 6582 genome.wustl.edu 37 6 160638427 160638427 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 160638427 160638427 C G SNP SLC22A2 ENST00000498556 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SLC22A2 HGNC SLC26A5 375611 genome.wustl.edu 37 7 103030907 103030907 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 103030907 103030907 G C SNP SLC26A5 ENST00000306312 human ensembl 70_37 -1 known missense c.1280 p.A427G 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC SLC5A11 115584 genome.wustl.edu 37 16 24902257 24902257 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 16 24902257 24902257 G C SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known silent c.732 p.R244 0.864 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC SOCS6 9306 genome.wustl.edu 37 18 67993286 67993286 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 18 67993286 67993286 C A SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known nonsense c.1382 p.S461* 0.998 smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC SPEF2 79925 genome.wustl.edu 37 5 35700753 35700753 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 35700753 35700753 C T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.2297 p.A766V 0.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC STXBP1 6812 genome.wustl.edu 37 9 130428485 130428485 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 130428485 130428485 G A SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known missense c.704 p.R235Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC SUGT1 10910 genome.wustl.edu 37 13 53239860 53239860 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 53239860 53239860 G C SNP SUGT1 ENST00000343788 human ensembl 70_37 +1 known missense c.607 p.E203Q 1.000 pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain pfam_SGS,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC SYT1 6857 genome.wustl.edu 37 12 79747354 79747354 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 79747354 79747354 C A SNP SYT1 ENST00000261205 human ensembl 70_37 +1 known missense c.883 p.L295M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin 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 SYT1 HGNC TBC1D9 23158 genome.wustl.edu 37 4 141555331 141555331 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 141555331 141555331 G C SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known silent c.2517 p.L839 0.487 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC TCOF1 6949 genome.wustl.edu 37 5 149755767 149755767 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 5 149755767 149755767 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known silent c.2016 p.A672 0.000 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TDRD1 56165 genome.wustl.edu 37 10 115986992 115986992 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 115986992 115986992 G C SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.3337 p.D1113H 0.999 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC TEP1 7011 genome.wustl.edu 37 14 20873630 20873630 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 20873630 20873630 C G SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.850 p.E284Q 0.999 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TFCP2 7024 genome.wustl.edu 37 12 51492613 51492613 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 51492613 51492613 G C SNP TFCP2 ENST00000257915 human ensembl 70_37 -1 known missense c.1365 p.I455M 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC TGFB3 7043 genome.wustl.edu 37 14 76447123 76447123 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 76447123 76447123 C G SNP TGFB3 ENST00000238682 human ensembl 70_37 -1 known missense c.114 p.K38N 1.000 pfam_TGF-b_N,pirsf_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC TIE1 7075 genome.wustl.edu 37 1 43783117 43783117 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 43783117 43783117 C G SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.070 - - - no_errors TIE1 HGNC TIE1 7075 genome.wustl.edu 37 1 43783303 43783303 + Missense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 43783303 43783303 C A SNP TIE1 ENST00000372476 human ensembl 70_37 +1 known missense c.2689 p.H897N 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 43783486 43783486 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 43783486 43783486 C T SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TIE1 HGNC TIGD4 201798 genome.wustl.edu 37 4 153690664 153690664 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 153690664 153690664 G A SNP TIGD4 ENST00000304337 human ensembl 70_37 -1 known missense c.1493 p.S498F 1.000 pfam_Centromere_CenpB_dimerisation pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC TIMP4 7079 genome.wustl.edu 37 3 12198411 12198411 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 12198411 12198411 G C SNP TIMP4 ENST00000287814 human ensembl 70_37 -1 known silent c.261 p.V87 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP4 HGNC TLL2 7093 genome.wustl.edu 37 10 98129927 98129927 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 10 98129927 98129927 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known silent c.2808 p.R936 0.806 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC TMCC1 23023 genome.wustl.edu 37 3 129370446 129370446 + Frame_Shift_Del DEL G G - TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 3 129370446 129370446 G - DEL TMCC1 ENST00000393238 human ensembl 70_37 -1 known frame_shift_del c.1840 p.L614fs 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC TMEM59 9528 genome.wustl.edu 37 1 54497885 54497885 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 54497885 54497885 C T SNP TMEM59 ENST00000234831 human ensembl 70_37 -1 known missense c.910 p.E304K 1.000 NULL pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC TMEM80 283232 genome.wustl.edu 37 11 703087 703087 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 11 703087 703087 C T SNP TMEM80 ENST00000397510 human ensembl 70_37 +1 known silent c.444 p.L148 0.152 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC TNS4 84951 genome.wustl.edu 37 17 38645133 38645133 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 38645133 38645133 G A SNP TNS4 ENST00000254051 human ensembl 70_37 -1 known silent c.528 p.F176 0.238 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC TRAPPC9 83696 genome.wustl.edu 37 8 140743268 140743268 + RNA SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 140743268 140743268 C T SNP TRAPPC9 ENST00000521667 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors TRAPPC9 HGNC TRIM13 10206 genome.wustl.edu 37 13 50587012 50587012 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 13 50587012 50587012 G T SNP TRIM13 ENST00000298772 human ensembl 70_37 +1 known missense c.945 p.W315C 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC TSPAN1 10103 genome.wustl.edu 37 1 46651335 46651335 + RNA SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 46651335 46651335 C G SNP TSPAN1 ENST00000470318 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors TSPAN1 HGNC TYROBP 7305 genome.wustl.edu 37 19 36395531 36395531 + Silent SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 36395531 36395531 G C SNP TYROBP ENST00000262629 human ensembl 70_37 -1 known silent c.282 p.L94 1.000 NULL NULL - no_errors TYROBP HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154527964 154527964 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 154527964 154527964 G A SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known silent c.477 p.L159 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC UBE3C 9690 genome.wustl.edu 37 7 156976679 156976679 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 7 156976679 156976679 G A SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.1099 p.D367N 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UHRF1BP1L 23074 genome.wustl.edu 37 12 100452656 100452656 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 100452656 100452656 G A SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.2399 p.S800L 0.026 NULL NULL - no_errors UHRF1BP1L HGNC UNG 7374 genome.wustl.edu 37 12 109539758 109539758 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 12 109539758 109539758 C T SNP UNG ENST00000242576 human ensembl 70_37 +1 known missense c.487 p.H163Y 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC URM1 81605 genome.wustl.edu 37 9 131151899 131151899 + RNA SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 9 131151899 131151899 G A SNP URM1 ENST00000483206 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors URM1 HGNC USP29 57663 genome.wustl.edu 37 19 57641688 57641688 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 57641688 57641688 C T SNP USP29 ENST00000254181 human ensembl 70_37 +1 known missense c.1645 p.L549F 0.891 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC USP53 54532 genome.wustl.edu 37 4 120169975 120169975 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 120169975 120169975 G A SNP USP53 ENST00000274030 human ensembl 70_37 +1 known missense c.310 p.E104K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC VPS53 55275 genome.wustl.edu 37 17 465783 465783 + Nonsense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 465783 465783 G A SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known nonsense c.1516 p.R506* 1.000 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC WDR1 9948 genome.wustl.edu 37 4 10083053 10083053 + Silent SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 4 10083053 10083053 C A SNP WDR1 ENST00000382452 human ensembl 70_37 -1 known silent c.1212 p.V404 1.000 superfamily_WD40_repeat_dom,pfscan_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 WDR1 HGNC WDR83 84292 genome.wustl.edu 37 19 12781580 12781580 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 12781580 12781580 G A SNP WDR83 ENST00000242796 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_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 WDR83 HGNC WNK4 65266 genome.wustl.edu 37 17 40947491 40947491 + Missense_Mutation SNP C C G TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 17 40947491 40947491 C G SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.2974 p.P992A 0.002 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC WWC3 55841 genome.wustl.edu 37 X 10106899 10106899 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b X 10106899 10106899 C T SNP WWC3 ENST00000380861 human ensembl 70_37 +1 known missense c.3007 p.R1003C 0.727 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC YIPF3 25844 genome.wustl.edu 37 6 43483678 43483678 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 6 43483678 43483678 G C SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known missense c.237 p.F79L 1.000 NULL NULL - no_errors YIPF3 HGNC YY1 7528 genome.wustl.edu 37 14 100728666 100728666 + Missense_Mutation SNP G G C TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 14 100728666 100728666 G C SNP YY1 ENST00000262238 human ensembl 70_37 +1 known missense c.705 p.E235D 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ZAK 51776 genome.wustl.edu 37 2 174123523 174123523 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 2 174123523 174123523 G A SNP ZAK ENST00000375213 human ensembl 70_37 +1 known missense c.1456 p.E486K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ZFHX4 79776 genome.wustl.edu 37 8 77763459 77763459 + Silent SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 8 77763459 77763459 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.4302 p.F1434 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZFHX4 HGNC ZFP82 284406 genome.wustl.edu 37 19 36884445 36884445 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 36884445 36884445 C T SNP ZFP82 ENST00000392161 human ensembl 70_37 -1 known missense c.797 p.R266Q 0.000 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 ZFP82 HGNC ZIM2 23619 genome.wustl.edu 37 19 57293432 57293432 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 19 57293432 57293432 C T SNP ZIM2 ENST00000221722 human ensembl 70_37 -1 known missense c.535 p.E179K 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ZNF687 57592 genome.wustl.edu 37 1 151259572 151259572 + Missense_Mutation SNP C C T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d43e632-5604-499e-b014-43c85681529a b0555c04-f588-49fa-938b-7b031157e11b 1 151259572 151259572 C T SNP ZNF687 ENST00000324048 human ensembl 70_37 +1 known missense c.805 p.H269Y 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC