Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF BCL2L15 0 genome.wustl.edu 37 1 114429206 114429206 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 114429206 114429206 A G SNP BCL2L15 ENST00000393316 human ensembl 74_37 -1 known silent c.202 p.L68 0.004 NULL NULL - no_errors BCL2L15 HGNC ENSG00000188761 40 0 0 48 18 27.2727 PHGDH 0 genome.wustl.edu 37 1 120284422 120284422 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 120284422 120284422 A C SNP PHGDH ENST00000369409 human ensembl 74_37 +1 known missense c.1111 p.S371R 0.961 tigrfam_D-3-Phosphoglycerate_DH pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 68 0 0 62 29 31.8681 ENSG00000203849 0 genome.wustl.edu 37 1 142714007 142714007 + RNA SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 142714007 142714007 T C SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.142 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 12 0 0 9 4 30.7692 FLG 0 genome.wustl.edu 37 1 152286041 152286041 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 152286041 152286041 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1321 p.G441R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 262 0 0 88 194 68.7943 PGLYRP4 0 genome.wustl.edu 37 1 153303244 153303244 + Nonstop_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 153303244 153303244 C A SNP PGLYRP4 ENST00000359650 human ensembl 74_37 -1 known nonstop c.1121 p.*374L 0.965 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 45 0 0 79 18 18.5567 FCRL5 0 genome.wustl.edu 37 1 157485420 157485420 + RNA SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 157485420 157485420 T C SNP FCRL5 ENST00000461387 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL5 HGNC ENSG00000143297 147 0 0 175 58 24.8927 SPTA1 0 genome.wustl.edu 37 1 158585114 158585114 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 158585114 158585114 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6680 p.L2227P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 158 0 0 180 39 17.8082 SPTA1 0 genome.wustl.edu 37 1 158621218 158621218 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 158621218 158621218 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3416 p.K1139R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 158 0 0 181 53 22.6496 HMCN1 0 genome.wustl.edu 37 1 185892705 185892705 + Missense_Mutation SNP T T A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 185892705 185892705 T A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1205 p.F402Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 95 0 0 61 34 35.7895 TPR 0 genome.wustl.edu 37 1 186291783 186291783 + RNA SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 186291783 186291783 T C SNP TPR ENST00000467810 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPR HGNC ENSG00000047410 28 0 0 10 17 62.963 PLA2G4A 0 genome.wustl.edu 37 1 186948546 186948546 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 186948546 186948546 A G SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.2060 p.N687S 1.000 superfamily_Acyl_Trfase/lysoPLipase,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 56 0 0 58 44 43.1373 CR1L 0 genome.wustl.edu 37 1 207857241 207857241 + Silent SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 207857241 207857241 T C SNP CR1L ENST00000508064 human ensembl 74_37 +1 known silent c.402 p.S134 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 64 0 0 75 4 5.06329 OBSCN 0 genome.wustl.edu 37 1 228461923 228461923 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 228461923 228461923 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.5461 p.E1821K 0.151 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 69 0 0 14 58 80.5556 HIST3H2A 0 genome.wustl.edu 37 1 228645509 228645509 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 228645509 228645509 G A SNP HIST3H2A ENST00000366695 human ensembl 74_37 -1 known missense c.10 p.R4C 0.018 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC ENSG00000181218 27 0 0 32 7 17.9487 LYST 0 genome.wustl.edu 37 1 235918947 235918947 + Missense_Mutation SNP G G C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 235918947 235918947 G C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7060 p.L2354V 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 105 0 0 101 33 24.6269 FMN2 0 genome.wustl.edu 37 1 240370555 240370555 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 240370555 240370555 T C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2443 p.S815P 0.562 smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 54 0 0 54 19 26.0274 FMN2 0 genome.wustl.edu 37 1 240371459 240371459 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 240371459 240371459 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3347 p.A1116V 0.004 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 26 0 0 24 7 22.5806 DAB1 0 genome.wustl.edu 37 1 57602299 57602299 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 57602299 57602299 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.223 p.A75T 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 26 0 0 44 11 20 ARHGAP29 0 genome.wustl.edu 37 1 94643169 94643169 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 94643169 94643169 A C SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.2904 p.S968R 0.007 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 34 0 0 57 5 8.06452 ALG14 0 genome.wustl.edu 37 1 95538430 95538430 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 1 95538430 95538430 C T SNP ALG14 ENST00000370205 human ensembl 74_37 -1 known missense c.25 p.A9T 0.023 NULL pfam_Oligosacch_biosynth_Alg14 - no_errors ALG14 HGNC ENSG00000172339 64 0 0 105 13 11.0169 SMC3 0 genome.wustl.edu 37 10 112352843 112352843 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 112352843 112352843 A G SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.1825 p.M609V 1.000 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 36 0 0 17 27 61.3636 KIAA1462 0 genome.wustl.edu 37 10 30336525 30336525 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 30336525 30336525 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.217 p.R73C 0.001 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 58 0 0 46 18 28.125 ZNF488 0 genome.wustl.edu 37 10 48371038 48371038 + Missense_Mutation SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 48371038 48371038 G T SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known missense c.506 p.R169L 0.559 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 58 0 0 33 14 29.7872 PCDH15 0 genome.wustl.edu 37 10 55587203 55587203 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 55587203 55587203 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4317 p.P1439 0.377 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 83 0 0 66 36 35.2941 CDH23 0 genome.wustl.edu 37 10 73544160 73544160 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 73544160 73544160 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5500 p.P1834S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 38 0 0 40 3 6.97674 LRIT1 0 genome.wustl.edu 37 10 85991924 85991924 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 85991924 85991924 G A SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.1631 p.T544M 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 37 0 0 29 12 29.2683 FLI1 0 genome.wustl.edu 37 11 128638116 128638116 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 128638116 128638116 C T SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known missense c.334 p.P112S 1.000 superfamily_SAM/pointed pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 41 0 0 21 10 32.2581 IGSF9B 0 genome.wustl.edu 37 11 133802003 133802003 + Missense_Mutation SNP T T A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 133802003 133802003 T A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.1073 p.K358M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 14 0 0 19 8 29.6296 SLC5A12 0 genome.wustl.edu 37 11 26725134 26725134 + Silent SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 26725134 26725134 G T SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known silent c.765 p.V255 0.161 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 SLC5A12 HGNC ENSG00000148942 98 0 0 88 35 28.4553 ABTB2 0 genome.wustl.edu 37 11 34182568 34182568 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 34182568 34182568 C T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.2279 p.R760Q 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 18 0 0 18 9 33.3333 OR52E6 0 genome.wustl.edu 37 11 5862525 5862525 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 5862525 5862525 A G SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known silent c.615 p.G205 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 70 0 0 62 8 11.4286 MS4A14 0 genome.wustl.edu 37 11 60183179 60183179 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 60183179 60183179 A C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.738 p.E246D 0.043 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 79 0 0 67 25 27.1739 SART1 0 genome.wustl.edu 37 11 65732651 65732651 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 65732651 65732651 G A SNP SART1 ENST00000312397 human ensembl 74_37 +1 known silent c.516 p.A172 0.148 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 31 0 0 34 4 10.5263 TPP1 0 genome.wustl.edu 37 11 6638271 6638271 + Nonsense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 6638271 6638271 G A SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known nonsense c.622 p.R208* 0.988 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 42 0 0 23 14 37.8378 SUV420H1 0 genome.wustl.edu 37 11 67938540 67938540 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 67938540 67938540 A C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.919 p.Y307D 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 57 0 0 43 23 34.8485 FAT3 0 genome.wustl.edu 37 11 92087432 92087432 + Silent SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 11 92087432 92087432 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.2154 p.I718 0.305 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 156 0 0 105 46 30.4636 CLIP1 0 genome.wustl.edu 37 12 122801401 122801401 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 122801401 122801401 A C SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.3368 p.L1123W 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 19 0 0 20 10 33.3333 SLC6A13 0 genome.wustl.edu 37 12 330193 330193 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 330193 330193 C T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.1730 p.R577Q 0.009 prints_Na/ntran_symport_GABA_GAT2 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 23 0 0 32 13 28.8889 LRRK2 0 genome.wustl.edu 37 12 40671948 40671948 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 40671948 40671948 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2126 p.K709T 0.987 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 97 0 0 110 24 17.9104 ADAMTS20 0 genome.wustl.edu 37 12 43826503 43826503 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 43826503 43826503 A G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.2832 p.V944 0.955 smart_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 77 0 0 84 14 14.2857 ACVR1B 0 genome.wustl.edu 37 12 52379014 52379014 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 52379014 52379014 A C SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.1018 p.N340H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 57 0 0 36 3 7.69231 KRT8 0 genome.wustl.edu 37 12 53295827 53295827 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 53295827 53295827 C T SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.354 p.M118I 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 42 0 0 28 2 6.66667 NEUROD4 0 genome.wustl.edu 37 12 55421113 55421113 + Missense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 55421113 55421113 C A SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.890 p.P297H 0.773 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 453 0 0 375 153 28.9773 DNAJC14 0 genome.wustl.edu 37 12 56221845 56221845 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 56221845 56221845 G A SNP DNAJC14 ENST00000317269 human ensembl 74_37 -1 known missense c.598 p.R200C 0.956 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC14 HGNC ENSG00000135392 60 0 0 55 23 29.4872 ANO2 0 genome.wustl.edu 37 12 5708660 5708660 + Nonsense_Mutation SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 5708660 5708660 G T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known nonsense c.2226 p.Y742* 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 109 0 0 125 83 39.9038 LTBR 0 genome.wustl.edu 37 12 6499832 6499832 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 6499832 6499832 A G SNP LTBR ENST00000228918 human ensembl 74_37 +1 known missense c.1037 p.N346S 0.999 pirsf_TNFR_3_LTBR,prints_TNFR_3_LTBR pirsf_TNFR_3_LTBR,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LTBR HGNC ENSG00000111321 119 0 0 152 35 18.7166 C12orf50 0 genome.wustl.edu 37 12 88376963 88376963 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 88376963 88376963 G A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.1136 p.T379M 0.482 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 68 0 0 45 25 35.7143 TEX29 0 genome.wustl.edu 37 13 111980581 111980581 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 13 111980581 111980581 G A SNP TEX29 ENST00000283547 human ensembl 74_37 +1 known missense c.110 p.R37Q 0.030 NULL NULL - no_errors TEX29 HGNC ENSG00000153495 50 0 0 43 11 20.3704 TMCO3 0 genome.wustl.edu 37 13 114157822 114157822 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 13 114157822 114157822 A C SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.957 p.Q319H 0.999 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 91 0 0 61 4 6.15385 AKAP11 0 genome.wustl.edu 37 13 42876004 42876004 + Missense_Mutation SNP A A T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 13 42876004 42876004 A T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.3122 p.K1041M 0.959 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 132 0 0 109 14 11.3821 APOPT1 0 genome.wustl.edu 37 14 104056650 104056650 + RNA SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 14 104056650 104056650 C T SNP APOPT1 ENST00000473127 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors APOPT1 HGNC ENSG00000256053 64 0 0 50 27 35.0649 MYH6 0 genome.wustl.edu 37 14 23873529 23873529 + Silent SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 14 23873529 23873529 G T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.711 p.V237 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 129 0 0 81 32 28.3186 ABHD12B 0 genome.wustl.edu 37 14 51347206 51347206 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 14 51347206 51347206 G A SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known silent c.372 p.K124 0.141 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 109 0 0 112 11 8.94309 UNC79 0 genome.wustl.edu 37 14 94008914 94008914 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 14 94008914 94008914 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1627 p.D543N 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 81 0 0 30 63 67.7419 AK7 0 genome.wustl.edu 37 14 96887177 96887177 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 14 96887177 96887177 T C SNP AK7 ENST00000267584 human ensembl 74_37 +1 known missense c.517 p.F173L 0.949 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase - no_errors AK7 HGNC ENSG00000140057 44 0 0 33 15 31.25 SPTBN5 0 genome.wustl.edu 37 15 42168400 42168400 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 15 42168400 42168400 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4034 p.R1345H 0.022 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 36 0 0 26 4 13.3333 LDHAL6B 0 genome.wustl.edu 37 15 59499721 59499721 + Silent SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 15 59499721 59499721 T C SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known silent c.582 p.Y194 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 160 0 0 63 135 68.1818 SKOR1 0 genome.wustl.edu 37 15 68118849 68118849 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 15 68118849 68118849 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.683 p.R228Q 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 41 0 0 59 16 21.3333 ANP32A 0 genome.wustl.edu 37 15 69080237 69080237 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 15 69080237 69080237 T G SNP ANP32A ENST00000465139 human ensembl 74_37 -1 known missense c.76 p.N26H 1.000 NULL pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C - no_errors ANP32A HGNC ENSG00000140350 137 0 0 155 35 18.4211 MMP2 0 genome.wustl.edu 37 16 55522479 55522479 + Missense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 16 55522479 55522479 C A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.857 p.A286D 0.358 pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 23 0 0 14 4 22.2222 CNGB1 0 genome.wustl.edu 37 16 57954299 57954299 + Missense_Mutation SNP G G C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 16 57954299 57954299 G C SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.1793 p.P598R 0.999 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 63 0 0 46 4 8 CLEC18A 0 genome.wustl.edu 37 16 69988260 69988260 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 16 69988260 69988260 G A SNP CLEC18A ENST00000449317 human ensembl 74_37 +1 known silent c.240 p.Q80 0.028 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18A HGNC ENSG00000157322 24 0 0 10 4 28.5714 MYH4 0 genome.wustl.edu 37 17 10369962 10369962 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 10369962 10369962 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.101 p.A34V 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 134 0 0 118 7 5.6 DNAH9 0 genome.wustl.edu 37 17 11713633 11713633 + Missense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 11713633 11713633 C A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8654 p.A2885D 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 79 0 0 58 21 26.5823 GPR179 0 genome.wustl.edu 37 17 36499599 36499599 + Missense_Mutation SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 36499599 36499599 G T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.74 p.A25D 0.997 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 38 0 0 51 10 16.3934 ARL4D 0 genome.wustl.edu 37 17 41477310 41477310 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 41477310 41477310 C T SNP ARL4D ENST00000320033 human ensembl 74_37 +1 known silent c.210 p.I70 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4D HGNC ENSG00000175906 66 0 0 47 17 26.5625 LUC7L3 0 genome.wustl.edu 37 17 48819054 48819054 + Missense_Mutation SNP C C G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 48819054 48819054 C G SNP LUC7L3 ENST00000240304 human ensembl 74_37 +1 known missense c.388 p.Q130E 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L3 HGNC ENSG00000108848 42 0 0 47 4 7.84314 ACE 0 genome.wustl.edu 37 17 61557756 61557756 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 61557756 61557756 C T SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.714 p.D238 0.987 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 59 0 0 49 19 27.9412 TP53 0 genome.wustl.edu 37 17 7578542 7578542 + Missense_Mutation SNP G G C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 7578542 7578542 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.388 p.L130V 0.985 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 30 0 0 10 21 67.7419 CEP192 0 genome.wustl.edu 37 18 13059147 13059147 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 18 13059147 13059147 G A SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.4324 p.E1442K 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 140 0 0 106 41 27.8912 DCC 0 genome.wustl.edu 37 18 51053116 51053116 + Missense_Mutation SNP A A T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 18 51053116 51053116 A T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.4241 p.E1414V 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 77 0 0 55 17 23.6111 CDH7 0 genome.wustl.edu 37 18 63511131 63511131 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 18 63511131 63511131 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1065 p.L355 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 88 0 0 49 40 44.9438 ICAM4 0 genome.wustl.edu 37 19 10398776 10398776 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 10398776 10398776 C T SNP ICAM4 ENST00000380770 human ensembl 74_37 +1 known missense c.812 p.A271V 0.000 NULL pfam_ICAM_N,prints_ICAM_VCAM_N - no_errors ICAM4 HGNC ENSG00000105371 34 0 0 35 12 25.5319 MEX3D 0 genome.wustl.edu 37 19 1556548 1556548 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 1556548 1556548 G A SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known missense c.970 p.P324S 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 23 0 0 22 3 12 SUGP2 0 genome.wustl.edu 37 19 19129942 19129942 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 19129942 19129942 A C SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.1826 p.L609R 0.001 superfamily_Surp,smart_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 43 0 0 38 3 7.31707 PPAP2C 0 genome.wustl.edu 37 19 282196 282196 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 282196 282196 T C SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known missense c.718 p.K240E 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 34 0 0 32 4 11.1111 PPAP2C 0 genome.wustl.edu 37 19 282201 282201 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 282201 282201 T G SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known missense c.713 p.D238A 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 33 0 0 31 7 18.4211 DMKN 0 genome.wustl.edu 37 19 36002331 36002331 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 36002331 36002331 G A SNP DMKN ENST00000339686 human ensembl 74_37 -1 known silent c.900 p.S300 0.000 NULL NULL - no_errors DMKN HGNC ENSG00000161249 30 0 0 17 7 29.1667 ZNF569 0 genome.wustl.edu 37 19 37935838 37935838 + Nonsense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 37935838 37935838 G A SNP ZNF569 ENST00000589833 human ensembl 74_37 -1 putative nonsense c.58 p.Q20* 0.812 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 64 0 0 36 21 36.8421 CAPN12 0 genome.wustl.edu 37 19 39233065 39233065 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 39233065 39233065 G A SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known silent c.411 p.G137 0.377 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 32 0 0 23 17 42.5 MYBPC2 0 genome.wustl.edu 37 19 50961956 50961956 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 50961956 50961956 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.2451 p.A817 0.884 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 40 0 0 28 3 9.67742 CLEC11A 0 genome.wustl.edu 37 19 51227348 51227348 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 51227348 51227348 C T SNP CLEC11A ENST00000250340 human ensembl 74_37 +1 known silent c.334 p.L112 0.063 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 38 0 0 23 13 36.1111 PPP2R1A 0 genome.wustl.edu 37 19 52715979 52715979 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 52715979 52715979 C T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.544 p.R182W 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 73 0 0 47 17 26.5625 ZNF835 0 genome.wustl.edu 37 19 57175484 57175484 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 57175484 57175484 A G SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.1083 p.P361 0.154 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 22 0 0 19 4 17.3913 USP29 0 genome.wustl.edu 37 19 57641483 57641483 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 57641483 57641483 A C SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1440 p.E480D 0.990 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 126 0 0 80 46 36.5079 RGPD4 0 genome.wustl.edu 37 2 108479240 108479240 + Nonsense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 108479240 108479240 C T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known nonsense c.2308 p.R770* 0.592 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 163 1 0.609756 111 53 32.3171 LCT 0 genome.wustl.edu 37 2 136562354 136562354 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 136562354 136562354 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.4447 p.A1483T 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 37 0 0 22 13 37.1429 RND3 0 genome.wustl.edu 37 2 151331486 151331486 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 151331486 151331486 T C SNP RND3 ENST00000263895 human ensembl 74_37 -1 known missense c.251 p.Y84C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 34 0 0 19 8 29.6296 CHRNA1 0 genome.wustl.edu 37 2 175619140 175619140 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 175619140 175619140 G A SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.422 p.A141V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 35 0 0 24 17 41.4634 ITGAV 0 genome.wustl.edu 37 2 187503013 187503013 + Nonsense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 187503013 187503013 C A SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known nonsense c.812 p.S271* 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 20 0 0 15 7 31.8182 DNAH7 0 genome.wustl.edu 37 2 196877623 196877623 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 196877623 196877623 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.877 p.R293C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 35 0 0 40 10 20 SPEG 0 genome.wustl.edu 37 2 220312985 220312985 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 220312985 220312985 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.1105 p.A369T 0.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 28 0 0 19 12 38.7097 SPHKAP 0 genome.wustl.edu 37 2 229046307 229046307 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 229046307 229046307 C T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.8 p.G3D 0.999 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 98 0 0 123 19 13.3803 PASK 0 genome.wustl.edu 37 2 242076420 242076420 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 242076420 242076420 T G SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.1136 p.K379T 1.000 superfamily_PAS,smart_PAS pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 46 0 0 39 4 9.30233 SLC30A3 0 genome.wustl.edu 37 2 27480102 27480102 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 27480102 27480102 G A SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known missense c.697 p.R233W 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 46 0 0 22 29 56.8627 NRXN1 0 genome.wustl.edu 37 2 50280600 50280600 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 50280600 50280600 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3913 p.E1305K 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 79 0 0 78 18 18.75 VPS54 0 genome.wustl.edu 37 2 64148443 64148443 + Missense_Mutation SNP T T A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 64148443 64148443 T A SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.1766 p.D589V 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 56 0 0 68 4 5.55556 VPS54 0 genome.wustl.edu 37 2 64189220 64189220 + Nonsense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 64189220 64189220 G A SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known nonsense c.982 p.Q328* 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 137 0 0 203 12 5.5814 AAK1 0 genome.wustl.edu 37 2 69709919 69709919 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 69709919 69709919 A G SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known silent c.2391 p.S797 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 21 0 0 28 3 9.67742 WBP1 0 genome.wustl.edu 37 2 74686657 74686657 + RNA SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 74686657 74686657 C T SNP WBP1 ENST00000464774 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors WBP1 HGNC ENSG00000239779 24 0 0 18 5 21.7391 REG1B 0 genome.wustl.edu 37 2 79312349 79312349 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 79312349 79312349 T G SNP REG1B ENST00000305089 human ensembl 74_37 -1 known missense c.494 p.K165T 0.001 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 41 0 0 37 12 24.4898 TEKT4 0 genome.wustl.edu 37 2 95542476 95542476 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 95542476 95542476 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.1270 p.R424C 0.689 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 22 0 0 21 4 16 ZNF2 0 genome.wustl.edu 37 2 95847411 95847411 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 95847411 95847411 C T SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.838 p.H280Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 85 0 0 46 35 43.2099 SGK2 0 genome.wustl.edu 37 20 42204996 42204996 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 20 42204996 42204996 C T SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known missense c.1006 p.R336W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 45 0 0 101 17 14.4068 TOX2 0 genome.wustl.edu 37 20 42574587 42574587 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 20 42574587 42574587 C T SNP TOX2 ENST00000358131 human ensembl 74_37 +1 known missense c.35 p.A12V 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 48 0 0 88 9 9.27835 KCNB1 0 genome.wustl.edu 37 20 47991257 47991257 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 20 47991257 47991257 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.840 p.T280 0.052 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_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 ENSG00000158445 72 0 0 80 15 15.7895 SETD4 0 genome.wustl.edu 37 21 37418071 37418071 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 21 37418071 37418071 A G SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known missense c.535 p.S179P 1.000 pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 91 0 0 75 38 33.6283 TRPM2 0 genome.wustl.edu 37 21 45789217 45789217 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 21 45789217 45789217 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.762 p.I254 0.069 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 24 0 0 32 2 5.88235 MED15 0 genome.wustl.edu 37 22 20939222 20939222 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 22 20939222 20939222 C T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.1884 p.N628 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 131 0 0 85 37 30.3279 CCDC116 0 genome.wustl.edu 37 22 21991026 21991026 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 22 21991026 21991026 G A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.1509 p.E503 0.337 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 62 0 0 66 6 8.33333 BCR 0 genome.wustl.edu 37 22 23603674 23603674 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 22 23603674 23603674 C T SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.1699 p.R567C 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 78 0 0 47 18 27.6923 BAIAP2L2 0 genome.wustl.edu 37 22 38494145 38494145 + Silent SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 22 38494145 38494145 C A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known silent c.390 p.A130 0.008 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 52 0 0 29 15 34.0909 CACNA1I 0 genome.wustl.edu 37 22 40069984 40069984 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 22 40069984 40069984 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.4818 p.K1606 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 36 0 0 24 3 11.1111 ARHGEF26 0 genome.wustl.edu 37 3 153840224 153840224 + Missense_Mutation SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 153840224 153840224 G T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.443 p.R148L 0.890 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 26 0 0 19 7 26.9231 CNTN4 0 genome.wustl.edu 37 3 2861218 2861218 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 2861218 2861218 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.407 p.R136Q 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 44 0 0 43 19 30.6452 SCN5A 0 genome.wustl.edu 37 3 38648264 38648264 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 38648264 38648264 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.1036 p.E346K 0.006 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 65 0 0 21 23 52.2727 CELSR3 0 genome.wustl.edu 37 3 48697258 48697258 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 48697258 48697258 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.2810 p.G937D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 112 0 0 52 17 24.6377 MST1R 0 genome.wustl.edu 37 3 49936308 49936308 + Missense_Mutation SNP C C G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 49936308 49936308 C G SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1540 p.G514R 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 94 0 0 72 6 7.69231 PRKCD 0 genome.wustl.edu 37 3 53220186 53220186 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 53220186 53220186 C T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known silent c.1090 p.L364 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 29 0 0 11 7 38.8889 FRMD4B 0 genome.wustl.edu 37 3 69236960 69236960 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 69236960 69236960 G A SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known missense c.1880 p.S627L 0.996 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 25 0 0 17 9 34.6154 SMAD1 0 genome.wustl.edu 37 4 146460992 146460992 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 4 146460992 146460992 A G SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known missense c.437 p.Y146C 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 54 0 0 39 18 31.5789 VEGFC 0 genome.wustl.edu 37 4 177632778 177632778 + Silent SNP A A T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 4 177632778 177632778 A T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known silent c.579 p.S193 0.969 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 101 0 0 87 30 25.641 CTNND2 0 genome.wustl.edu 37 5 11411765 11411765 + Splice_Site SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 11411765 11411765 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known splice_site c.323-1 e5-1 1.000 - - - no_errors CTNND2 HGNC ENSG00000169862 39 0 0 91 12 11.6505 PCDHA9 0 genome.wustl.edu 37 5 140229141 140229141 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 140229141 140229141 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1061 p.T354M 0.025 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 79 0 0 54 18 25 PCDHA10 0 genome.wustl.edu 37 5 140237415 140237415 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 140237415 140237415 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1782 p.R594 0.126 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 ENSG00000250120 40 0 0 61 14 18.6667 PCDHB6 0 genome.wustl.edu 37 5 140532152 140532152 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 140532152 140532152 T G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2314 p.F772V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 89 0 0 69 32 31.6832 SPINK5 0 genome.wustl.edu 37 5 147491381 147491381 + Silent SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 147491381 147491381 T C SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known silent c.1743 p.C581 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 67 0 0 49 23 31.9444 FGF18 0 genome.wustl.edu 37 5 170863108 170863108 + Silent SNP C C G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 170863108 170863108 C G SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known silent c.81 p.A27 1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 32 0 0 24 6 20 IRX4 0 genome.wustl.edu 37 5 1879711 1879711 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 1879711 1879711 C T SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.643 p.A215T 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 56 0 0 97 17 14.9123 NIPBL 0 genome.wustl.edu 37 5 37061100 37061100 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 37061100 37061100 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.7840 p.I2614V 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 44 0 0 74 19 20.4301 HMGCS1 0 genome.wustl.edu 37 5 43298983 43298983 + Nonsense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 43298983 43298983 G A SNP HMGCS1 ENST00000325110 human ensembl 74_37 -1 known nonsense c.85 p.Q29* 1.000 pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 107 0 0 140 37 20.904 SEMA5A 0 genome.wustl.edu 37 5 9063172 9063172 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 5 9063172 9063172 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2345 p.T782M 0.997 superfamily_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 27 0 0 26 53 67.0886 NUDT3 0 genome.wustl.edu 37 6 34256668 34256668 + Missense_Mutation SNP T T A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 6 34256668 34256668 T A SNP NUDT3 ENST00000607016 human ensembl 74_37 -1 known missense c.381 p.K127N 0.998 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC ENSG00000272325 50 0 0 72 17 19.1011 FAM83B 0 genome.wustl.edu 37 6 54805876 54805876 + Missense_Mutation SNP T T A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 6 54805876 54805876 T A SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2107 p.L703M 0.002 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 77 0 0 75 62 45.2555 F13A1 0 genome.wustl.edu 37 6 6266873 6266873 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 6 6266873 6266873 A G SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known silent c.489 p.A163 0.325 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 102 0 0 108 35 24.4755 KCNQ5 0 genome.wustl.edu 37 6 73830225 73830225 + Missense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 6 73830225 73830225 C A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1145 p.A382E 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 24 0 0 25 6 19.3548 KHDC3L 0 genome.wustl.edu 37 6 74072894 74072894 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 6 74072894 74072894 C T SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.246 p.N82 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 101 0 0 64 37 36.6337 ZAN 0 genome.wustl.edu 37 7 100349524 100349524 + Missense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 100349524 100349524 C A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.1796 p.T599N 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 79 0 0 73 15 17.0455 TMEM168 0 genome.wustl.edu 37 7 112407799 112407799 + Missense_Mutation SNP C C G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 112407799 112407799 C G SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1547 p.G516A 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 60 0 0 70 4 5.40541 CNOT4 0 genome.wustl.edu 37 7 135095396 135095396 + Silent SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 135095396 135095396 C A SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.690 p.A230 0.997 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 51 0 0 87 6 6.45161 TMEM213 0 genome.wustl.edu 37 7 138487711 138487711 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 138487711 138487711 C T SNP TMEM213 ENST00000422794 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 39 0 0 40 3 6.97674 CNTNAP2 0 genome.wustl.edu 37 7 148080940 148080940 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 148080940 148080940 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.3675 p.S1225 0.994 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 27 0 0 20 19 48.7179 SSPO 0 genome.wustl.edu 37 7 149524040 149524040 + RNA SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 149524040 149524040 A G SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.949 - - - no_errors SSPO HGNC ENSG00000197558 124 1 0.8 133 39 22.6744 TAX1BP1 0 genome.wustl.edu 37 7 27839705 27839705 + Missense_Mutation SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 27839705 27839705 A G SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known missense c.1760 p.Y587C 1.000 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 41 0 0 46 7 13.2075 GCK 0 genome.wustl.edu 37 7 44193050 44193050 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 44193050 44193050 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known silent c.61 p.L21 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 133 0 0 219 14 6.00858 AP5Z1 0 genome.wustl.edu 37 7 4830888 4830888 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 4830888 4830888 T C SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.2296 p.F766L 1.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 33 0 0 31 4 11.4286 GRM3 0 genome.wustl.edu 37 7 86415918 86415918 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 86415918 86415918 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.810 p.R270 0.043 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 53 0 0 64 18 21.9512 ADAM22 0 genome.wustl.edu 37 7 87808288 87808288 + Missense_Mutation SNP A A T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 87808288 87808288 A T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2339 p.D780V 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 44 0 0 41 13 24.0741 CYP3A4 0 genome.wustl.edu 37 7 99359762 99359762 + Silent SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 99359762 99359762 C T SNP CYP3A4 ENST00000336411 human ensembl 74_37 -1 known silent c.1155 p.G385 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 93 0 0 106 29 21.4815 TAF6 0 genome.wustl.edu 37 7 99710533 99710533 + Silent SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 7 99710533 99710533 T C SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known silent c.462 p.K154 1.000 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 195 0 0 189 77 28.9474 SPAG1 0 genome.wustl.edu 37 8 101203630 101203630 + Missense_Mutation SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 101203630 101203630 G A SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.845 p.R282H 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 51 0 0 53 13 19.697 KCNV1 0 genome.wustl.edu 37 8 110980822 110980822 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 110980822 110980822 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.998 p.R333H 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 40 0 0 47 12 20.339 EPPK1 0 genome.wustl.edu 37 8 144941359 144941359 + Missense_Mutation SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 144941359 144941359 G T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.6063 p.H2021Q 0.769 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 32 0 0 42 16 27.5862 MSR1 0 genome.wustl.edu 37 8 16012654 16012654 + Splice_Site SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 16012654 16012654 C A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known splice_site c.818-1 e5-1 1.000 - - - no_errors MSR1 HGNC ENSG00000038945 22 0 0 24 11 31.4286 CSMD1 0 genome.wustl.edu 37 8 2830805 2830805 + Missense_Mutation SNP G G T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 2830805 2830805 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8760 p.F2920L 0.463 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 155 0 0 153 24 13.5593 PPP2CB 0 genome.wustl.edu 37 8 30648824 30648824 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 30648824 30648824 T C SNP PPP2CB ENST00000221138 human ensembl 74_37 -1 known missense c.746 p.N249S 1.000 smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC ENSG00000104695 57 0 0 56 19 25.3333 ANK1 0 genome.wustl.edu 37 8 41552776 41552776 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 41552776 41552776 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3034 p.E1012K 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 121 1 0.819672 89 39 30.4688 POLB 0 genome.wustl.edu 37 8 42206594 42206594 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 42206594 42206594 C T SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.247 p.R83C 1.000 superfamily_DNA_pol_b-like_N,smart_DNA-dir_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 75 0 0 35 14 28.5714 SOX17 0 genome.wustl.edu 37 8 55370848 55370848 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 55370848 55370848 G A SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.150 p.A50 0.991 superfamily_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 14 0 0 19 6 24 ARFGEF1 0 genome.wustl.edu 37 8 68140335 68140335 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 68140335 68140335 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.3454 p.M1152V 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 79 0 0 79 34 30.0885 ARFGEF1 0 genome.wustl.edu 37 8 68213553 68213553 + Missense_Mutation SNP T T C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 8 68213553 68213553 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.218 p.N73S 1.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 85 0 0 85 36 29.7521 CCDC180 0 genome.wustl.edu 37 9 100126341 100126341 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 9 100126341 100126341 C T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.4043 p.P1348L 0.123 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 63 0 0 32 13 28.8889 OBP2A 0 genome.wustl.edu 37 9 138438674 138438674 + Silent SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 9 138438674 138438674 G A SNP OBP2A ENST00000340780 human ensembl 74_37 +1 known silent c.123 p.P41 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 19 0 0 28 7 20 CACNA1B 0 genome.wustl.edu 37 9 140846795 140846795 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 9 140846795 140846795 T G SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1036 p.F346V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 41 0 0 54 18 25 KANK1 0 genome.wustl.edu 37 9 742406 742406 + Splice_Site SNP G G A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 9 742406 742406 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known splice_site c.3897+1 e9+1 1.000 - - - no_errors KANK1 HGNC ENSG00000107104 33 0 0 15 12 44.4444 NTRK2 0 genome.wustl.edu 37 9 87635235 87635235 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 9 87635235 87635235 T G SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.2287 p.F763V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 104 0 0 75 35 31.8182 SMARCA1 0 genome.wustl.edu 37 X 128599895 128599895 + Missense_Mutation SNP T T G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 128599895 128599895 T G SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.2743 p.I915L 1.000 pfam_SLIDE,superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 46 0 0 57 37 39.3617 SAGE1 0 genome.wustl.edu 37 X 134983830 134983830 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 134983830 134983830 C T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.200 p.S67L 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 100 0 0 115 80 41.0256 PCYT1B 0 genome.wustl.edu 37 X 24625971 24625971 + Missense_Mutation SNP C C A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 24625971 24625971 C A SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.225 p.R75S 0.989 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 9 0 0 14 3 17.6471 MAGEB10 0 genome.wustl.edu 37 X 27840119 27840119 + Missense_Mutation SNP A A C TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 27840119 27840119 A C SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known missense c.696 p.L232F 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 28 0 0 24 14 36.8421 MXRA5 0 genome.wustl.edu 37 X 3239183 3239183 + Missense_Mutation SNP T T A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 3239183 3239183 T A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.4543 p.S1515C 0.000 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_dom - no_errors MXRA5 HGNC ENSG00000101825 52 0 0 91 11 10.7843 ZNF41 0 genome.wustl.edu 37 X 47306848 47306848 + Missense_Mutation SNP C C T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 47306848 47306848 C T SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known missense c.2351 p.R784H 0.579 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 ZNF41 HGNC ENSG00000147124 44 0 0 46 36 43.9024 FAAH2 0 genome.wustl.edu 37 X 57313396 57313396 + Silent SNP A A G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 57313396 57313396 A G SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known silent c.138 p.E46 0.057 superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 11 0 0 14 2 12.5 ACRC 0 genome.wustl.edu 37 X 70823751 70823751 + Missense_Mutation SNP C C G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a X 70823751 70823751 C G SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.624 p.N208K 0.547 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 177 0 0 158 92 36.8 NRG3 0 genome.wustl.edu 37 10 84718771 84718810 + Frame_Shift_Del DEL AGCATCCAGCACAATGGCAAAGTCAGAGAACTTGGTGAAG AGCATCCAGCACAATGGCAAAGTCAGAGAACTTGGTGAAG - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 AGCATCCAGCACAATGGCAAAGTCAGAGAACTTGGTGAAG AGCATCCAGCACAATGGCAAAGTCAGAGAACTTGGTGAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 10 84718771 84718810 AGCATCCAGCACAATGGCAAAGTCAGAGAACTTGGTGAAG - DEL NRG3 ENST00000404547 human ensembl 74_37 +1 known frame_shift_del c.1224_1263 p.S410fs 1.000:1.000:0.995:0.992:0.998:1.000:1.000:1.000:1.000:1.000:0.991:0.990:0.946:0.972:0.981:0.966:0.867:0.841:0.804:0.948:0.948:0.916:0.897:0.895:0.779:0.832:0.817:0.151:0.127:0.056:0.051:0.000:0.001:0.001:0.001:0.006:0.227:0.798:0.981:0.984 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 47 0 0 15 7 31.8182 HIP1R 0 genome.wustl.edu 37 12 123345886 123345887 + Frame_Shift_Ins INS - - G TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 123345886 123345887 - G INS HIP1R ENST00000253083 human ensembl 74_37 +1 known frame_shift_ins c.2984_2985 p.A996fs 1.000:1.000 pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 56 0 0 18 12 40 TBK1 0 genome.wustl.edu 37 12 64891001 64891003 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 12 64891001 64891003 GAA - DEL TBK1 ENST00000331710 human ensembl 74_37 +1 known in_frame_del c.1921_1923 p.E643in_frame_del 1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TBK1 HGNC ENSG00000183735 90 0 0 75 14 15.7303 ENSG00000258027 0 genome.wustl.edu 37 14 20086381 20086382 + Splice_Site INS - - T TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 14 20086381 20086382 - T INS ENSG00000258027 ENST00000548217 human ensembl 74_37 +1 known splice_site_ins c.NULL NULL 1.000:1.000 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000258027 27 0 0 10 5 33.3333 ZNF609 0 genome.wustl.edu 37 15 64967246 64967247 + Frame_Shift_Ins INS - - A TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 15 64967246 64967247 - A INS ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_ins c.2193_2194 p.K734fs 1.000:1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 138 0 0 169 63 27.1552 SLC24A1 0 genome.wustl.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 15 65918177 65918179 CTG - DEL SLC24A1 ENST00000261892 human ensembl 74_37 +1 known in_frame_del c.1759_1761 p.L590in_frame_del 1.000:1.000:1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 78 0 0 88 11 11.1111 NAGPA 0 genome.wustl.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 16 5083678 5083679 GC - DEL NAGPA ENST00000312251 human ensembl 74_37 -1 known frame_shift_del c.138_137 p.R46fs 0.004:0.541 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 10 0 0 6 2 25 KRT19 0 genome.wustl.edu 37 17 39684320 39684320 + Frame_Shift_Del DEL G G - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 17 39684320 39684320 G - DEL KRT19 ENST00000361566 human ensembl 74_37 -1 known frame_shift_del c.180 p.Y61fs 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 40 0 0 206 46 18.254 SBK2 0 genome.wustl.edu 37 19 56041169 56041169 + Frame_Shift_Del DEL C C - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 19 56041169 56041169 C - DEL SBK2 ENST00000344158 human ensembl 74_37 -1 known frame_shift_del c.978 p.R327fs 0.118 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SBK2 HGNC ENSG00000187550 27 0 0 18 6 25 CALCRL 0 genome.wustl.edu 37 2 188250275 188250275 + Frame_Shift_Del DEL A A - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 188250275 188250275 A - DEL CALCRL ENST00000392370 human ensembl 74_37 -1 known frame_shift_del c.48 p.F16fs 0.049 prints_GPCR_2_CGRP1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 35 0 0 26 8 23.5294 PREPL 0 genome.wustl.edu 37 2 44549026 44549026 + Frame_Shift_Del DEL A A - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 2 44549026 44549026 A - DEL PREPL ENST00000260648 human ensembl 74_37 -1 known frame_shift_del c.2034 p.N679fs 0.999 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 60 0 0 69 17 19.7674 ERGIC3 0 genome.wustl.edu 37 20 34144843 34144844 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 20 34144843 34144844 CT - DEL ERGIC3 ENST00000447986 human ensembl 74_37 +1 known frame_shift_del c.1024_1025 p.S343fs 1.000:1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 49 0 0 107 13 10.8333 CRTAP 0 genome.wustl.edu 37 3 33161979 33161980 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 3 33161979 33161980 AT - DEL CRTAP ENST00000320954 human ensembl 74_37 +1 known frame_shift_del c.615_616 p.Y206fs 0.000:0.986 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 15 0 0 15 14 48.2759 FAT4 0 genome.wustl.edu 37 4 126412322 126412324 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 4 126412322 126412324 CTC - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known in_frame_del c.14345_14347 p.P4784in_frame_del 0.695:0.640:1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 67 0 0 46 20 30.303 TFB1M 0 genome.wustl.edu 37 6 155632370 155632373 + Frame_Shift_Del DEL AGCG AGCG - TCGA-HU-A4GF-01A-11D-A24D-08 TCGA-HU-A4GF-10A-01D-A24F-08 AGCG AGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9641542-98dd-4827-b747-e66bdb1e4213 94ba2829-6f3a-49b5-99c0-c25b4d40b39a 6 155632370 155632373 AGCG - DEL TFB1M ENST00000367166 human ensembl 74_37 -1 known frame_shift_del c.237_234 p.A79fs 0.991:1.000:1.000:0.948 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 80 0 0 56 16 22.2222