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 CELSR2 0 genome.wustl.edu 37 1 109811770 109811770 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 109811770 109811770 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6670 p.A2224T 0.072 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR2 HGNC ENSG00000143126 51 0 0 28 13 31.7073 KCNA10 0 genome.wustl.edu 37 1 111059876 111059876 + Nonstop_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 111059876 111059876 A C SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known nonstop c.1534 p.*512G 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 49 0 0 33 9 21.4286 ENSG00000203849 0 genome.wustl.edu 37 1 142713407 142713407 + RNA SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 142713407 142713407 C T SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 41 0 0 28 8 22.2222 SPTA1 0 genome.wustl.edu 37 1 158618325 158618325 + Silent SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 158618325 158618325 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.3688 p.R1230 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 101 0 0 26 33 55.9322 CROCCP2 0 genome.wustl.edu 37 1 16953705 16953705 + RNA SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 16953705 16953705 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.142 - - - no_errors CROCCP2 HGNC ENSG00000215908 165 0 0 57 8 12.3077 TNR 0 genome.wustl.edu 37 1 175324651 175324651 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 175324651 175324651 G C SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3237 p.D1079E 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 77 0 0 19 33 63.4615 MIR181B1 0 genome.wustl.edu 37 1 198828005 198828005 + RNA SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 198828005 198828005 C T SNP MIR181B1 ENST00000385240 human ensembl 74_37 -1 known rna NULL NULL 0.951 - - - no_errors MIR181B1 HGNC ENSG00000207975 54 0 0 34 22 39.2857 NFASC 0 genome.wustl.edu 37 1 204923461 204923461 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 204923461 204923461 C T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.361 p.R121C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 44 0 0 22 8 26.6667 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 225 1 0.442478 95 42 30.6569 HEATR1 0 genome.wustl.edu 37 1 236730052 236730052 + Missense_Mutation SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 236730052 236730052 T G SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.4202 p.Q1401P 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 49 0 0 19 11 36.6667 NLRP3 0 genome.wustl.edu 37 1 247588491 247588491 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 247588491 247588491 C T SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known silent c.1746 p.G582 0.998 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 60 0 0 38 3 7.31707 CAP1 0 genome.wustl.edu 37 1 40535490 40535490 + Missense_Mutation SNP C C G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 40535490 40535490 C G SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.937 p.R313G 0.996 NULL pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 120 1 0.826446 48 26 35.1351 ELTD1 0 genome.wustl.edu 37 1 79404922 79404922 + Missense_Mutation SNP T T A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 79404922 79404922 T A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.347 p.H116L 0.952 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 23 0 0 17 9 34.6154 ABCC2 0 genome.wustl.edu 37 10 101578969 101578969 + Missense_Mutation SNP T T A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 10 101578969 101578969 T A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.2563 p.F855I 1.000 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 91 0 0 67 17 20.2381 SORCS3 0 genome.wustl.edu 37 10 107007060 107007060 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 10 107007060 107007060 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3076 p.G1026C 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 39 0 0 19 10 34.4828 TTC40 0 genome.wustl.edu 37 10 134622103 134622103 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 10 134622103 134622103 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.2453 p.R818H 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 49 0 0 16 18 52.9412 MYO3A 0 genome.wustl.edu 37 10 26385407 26385407 + Missense_Mutation SNP A A T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 10 26385407 26385407 A T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.1660 p.R554W 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 49 0 0 30 21 41.1765 DLG5 0 genome.wustl.edu 37 10 79579661 79579661 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 10 79579661 79579661 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.3518 p.P1173L 0.396 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 202 0 0 64 59 47.9675 CNTN5 0 genome.wustl.edu 37 11 100170065 100170065 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 11 100170065 100170065 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2557 p.V853I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 69 0 0 44 9 16.9811 CCDC15 0 genome.wustl.edu 37 11 124829033 124829033 + Missense_Mutation SNP A A T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 11 124829033 124829033 A T SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.200 p.E67V 1.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 18 0 0 8 3 27.2727 OR52A5 0 genome.wustl.edu 37 11 5153403 5153403 + Missense_Mutation SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 11 5153403 5153403 A G SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.470 p.L157P 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 96 0 0 53 15 22.0588 C11orf82 0 genome.wustl.edu 37 11 82644674 82644674 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 11 82644674 82644674 G C SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.2294 p.S765T 0.244 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 47 0 0 40 22 35.4839 CACNA1C 0 genome.wustl.edu 37 12 2676928 2676928 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 12 2676928 2676928 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.1863 p.C621 0.955 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 35 0 0 6 3 33.3333 FGF6 0 genome.wustl.edu 37 12 4554596 4554596 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 12 4554596 4554596 C T SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known silent c.141 p.T47 0.998 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 138 0 0 42 17 28.8136 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 145 0 0 12 27 69.2308 KRT6B 0 genome.wustl.edu 37 12 52841341 52841341 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 12 52841341 52841341 C A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.1441 p.V481F 0.971 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 91 0 0 20 19 48.7179 STAT6 0 genome.wustl.edu 37 12 57500552 57500552 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 12 57500552 57500552 C A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known missense c.402 p.L134F 0.004 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 139 0 0 77 24 23.7624 TMCO3 0 genome.wustl.edu 37 13 114202736 114202736 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 13 114202736 114202736 G A SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.1889 p.R630Q 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 98 0 0 80 10 11.1111 NBEA 0 genome.wustl.edu 37 13 36223810 36223810 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 13 36223810 36223810 C A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7726 p.P2576T 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 152 0 0 155 34 17.9894 CCNA1 0 genome.wustl.edu 37 13 37014260 37014260 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 13 37014260 37014260 G A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known silent c.1038 p.Q346 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 137 0 0 68 82 54.6667 SPERT 0 genome.wustl.edu 37 13 46287489 46287489 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 13 46287489 46287489 C A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.329 p.A110D 0.976 NULL NULL - no_errors SPERT HGNC ENSG00000174015 152 0 0 100 26 20.6349 LRRC16B 0 genome.wustl.edu 37 14 24538363 24538363 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 14 24538363 24538363 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.4000 p.R1334W 0.952 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 51 0 0 27 9 25 MEF2A 0 genome.wustl.edu 37 15 100214776 100214776 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 15 100214776 100214776 C T SNP MEF2A ENST00000338042 human ensembl 74_37 +1 known missense c.569 p.S190F 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 156 0 0 71 25 26.0417 GABRB3 0 genome.wustl.edu 37 15 27018863 27018863 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 15 27018863 27018863 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.9 p.S3 0.298 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 9 0 0 0 4 100 RYR3 0 genome.wustl.edu 37 15 34102755 34102755 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 15 34102755 34102755 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10102 p.V3368M 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 53 0 0 15 26 63.4146 AVEN 0 genome.wustl.edu 37 15 34158855 34158855 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 15 34158855 34158855 C T SNP AVEN ENST00000306730 human ensembl 74_37 -1 known missense c.1048 p.E350K 0.998 NULL NULL - no_errors AVEN HGNC ENSG00000169857 69 0 0 47 22 31.8841 DUOX1 0 genome.wustl.edu 37 15 45442866 45442866 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 15 45442866 45442866 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.2855 p.R952Q 0.994 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 73 0 0 16 22 57.8947 SEMA6D 0 genome.wustl.edu 37 15 48063347 48063347 + Missense_Mutation SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 15 48063347 48063347 T C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2587 p.S863P 0.947 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 101 0 0 39 51 56.6667 SOX8 0 genome.wustl.edu 37 16 1035103 1035103 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 16 1035103 1035103 G A SNP SOX8 ENST00000293894 human ensembl 74_37 +1 known missense c.1058 p.R353Q 0.041 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 26 0 0 6 7 53.8462 NLRC3 0 genome.wustl.edu 37 16 3614583 3614583 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 16 3614583 3614583 C A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.496 p.A166S 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 68 0 0 27 13 32.5 CNGB1 0 genome.wustl.edu 37 16 58001053 58001053 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 16 58001053 58001053 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known silent c.138 p.A46 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 102 0 0 23 16 41.0256 C16orf11 0 genome.wustl.edu 37 16 613320 613320 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 16 613320 613320 G A SNP C16orf11 ENST00000409413 human ensembl 74_37 +1 known missense c.26 p.R9H 0.635 NULL NULL - no_errors C16orf11 HGNC ENSG00000161992 66 0 0 12 10 45.4545 TOP2A 0 genome.wustl.edu 37 17 38548548 38548548 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 17 38548548 38548548 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.4010 p.S1337L 0.999 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 21 0 0 144 86 37.3913 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 49 0 0 15 4 21.0526 GIPC1 0 genome.wustl.edu 37 19 14591487 14591487 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 14591487 14591487 C T SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.392 p.R131H 1.000 superfamily_PDZ,pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 167 0 0 49 22 30.9859 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 123 1 0.806452 35 26 42.623 ENSG00000269481 0 genome.wustl.edu 37 19 17533126 17533126 + RNA SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 17533126 17533126 A G SNP ENSG00000269481 ENST00000593957 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2521M24.6 Clone_based_vega_gene ENSG00000269481 120 0 0 40 4 9.09091 ZNF492 0 genome.wustl.edu 37 19 22846623 22846623 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 22846623 22846623 G A SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.152 p.R51Q 0.052 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 17 0 0 5 4 44.4444 ZNF567 0 genome.wustl.edu 37 19 37211224 37211224 + Missense_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 37211224 37211224 A C SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.1598 p.Y533S 0.335 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 68 0 0 42 12 22.2222 PPP6R1 0 genome.wustl.edu 37 19 55756982 55756982 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 55756982 55756982 C T SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known missense c.292 p.A98T 0.454 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 42 0 0 14 2 12.5 MUC16 0 genome.wustl.edu 37 19 9086755 9086755 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 19 9086755 9086755 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5060 p.S1687I 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 113 0 0 62 30 32.6087 NPHP1 0 genome.wustl.edu 37 2 110881384 110881384 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 110881384 110881384 C T SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.2186 p.R729K 0.209 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 68 0 0 26 26 50 STEAP3 0 genome.wustl.edu 37 2 120005751 120005751 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 120005751 120005751 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1019 p.R340H 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 79 0 0 55 3 5.17241 DDX1 0 genome.wustl.edu 37 2 15742674 15742674 + Missense_Mutation SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 15742674 15742674 A G SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.310 p.I104V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,pfscan_B30.2/SPRY pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 44 0 0 29 22 43.1373 SCN9A 0 genome.wustl.edu 37 2 167055493 167055493 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 167055493 167055493 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5659 p.R1887W 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 123 0 0 74 57 43.5115 TLK1 0 genome.wustl.edu 37 2 171854267 171854267 + Silent SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 171854267 171854267 T C SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known silent c.1971 p.V657 0.974 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK1 HGNC ENSG00000198586 220 0 0 109 103 48.5849 WIPF1 0 genome.wustl.edu 37 2 175432646 175432646 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 175432646 175432646 G A SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.1285 p.P429S 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 85 0 0 71 18 20.2247 HOXD9 0 genome.wustl.edu 37 2 176987764 176987764 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 176987764 176987764 G T SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known missense c.268 p.A90S 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 23 0 0 5 7 58.3333 TTC30B 0 genome.wustl.edu 37 2 178417162 178417162 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 178417162 178417162 G A SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known silent c.330 p.A110 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 164 0 0 96 17 15.0442 TTN 0 genome.wustl.edu 37 2 179393870 179393870 + Silent SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 179393870 179393870 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.98904 p.V32968 0.970 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 14 0 0 20 19 48.7179 CRIM1 0 genome.wustl.edu 37 2 36749368 36749368 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 36749368 36749368 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.2340 p.S780 0.049 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 123 0 0 55 51 48.1132 MBOAT2 0 genome.wustl.edu 37 2 9008633 9008633 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 9008633 9008633 G A SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known silent c.930 p.D310 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 100 1 0.990099 86 14 14 VWA3B 0 genome.wustl.edu 37 2 98804462 98804462 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 2 98804462 98804462 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1336 p.A446T 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 56 0 0 41 8 16.3265 SCP2D1 0 genome.wustl.edu 37 20 18794852 18794852 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 20 18794852 18794852 C T SNP SCP2D1 ENST00000377428 human ensembl 74_37 +1 known silent c.393 p.A131 0.279 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors SCP2D1 HGNC ENSG00000132631 59 0 0 60 14 18.9189 TGM6 0 genome.wustl.edu 37 20 2381041 2381041 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 20 2381041 2381041 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.940 p.V314M 0.926 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 139 0 0 61 31 33.6957 ENSG00000269846 0 genome.wustl.edu 37 20 35724349 35724349 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 20 35724349 35724349 G T SNP ENSG00000269846 ENST00000598590 human ensembl 74_37 +1 known missense c.161 p.G54V 0.470 NULL NULL - no_errors RBL1 Uniprot_gn ENSG00000269846 16 0 0 14 5 26.3158 PTPRT 0 genome.wustl.edu 37 20 40733227 40733227 + Missense_Mutation SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 20 40733227 40733227 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3579 p.Q1193H 0.995 smart_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 111 0 0 98 17 14.7826 ARFGEF2 0 genome.wustl.edu 37 20 47605094 47605094 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 20 47605094 47605094 C A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2428 p.L810M 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 99 0 0 75 25 25 TPTEP1 0 genome.wustl.edu 37 22 17119473 17119473 + RNA SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 22 17119473 17119473 T C SNP TPTEP1 ENST00000383140 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors TPTEP1 HGNC ENSG00000100181 37 0 0 19 10 34.4828 BMS1P20 0 genome.wustl.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 22 22664141 22664141 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 89 0 0 50 5 9.09091 SEZ6L 0 genome.wustl.edu 37 22 26709789 26709789 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 22 26709789 26709789 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1936 p.E646K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 SEZ6L HGNC ENSG00000100095 107 0 0 75 31 29.2453 NEFH 0 genome.wustl.edu 37 22 29885490 29885490 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 22 29885490 29885490 C A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1861 p.P621T 0.025 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 136 1 0.729927 24 44 64.7059 GTSE1 0 genome.wustl.edu 37 22 46724658 46724658 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 22 46724658 46724658 C T SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.1798 p.P600S 0.343 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 136 0 0 68 30 30.6122 SEMA5B 0 genome.wustl.edu 37 3 122630821 122630821 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 3 122630821 122630821 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.3154 p.A1052T 0.002 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_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 SEMA5B HGNC ENSG00000082684 35 0 0 11 13 54.1667 NMD3 0 genome.wustl.edu 37 3 160945113 160945113 + Silent SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 3 160945113 160945113 C A SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known silent c.258 p.I86 1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 24 0 0 49 4 7.54717 GLB1 0 genome.wustl.edu 37 3 33055719 33055719 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 3 33055719 33055719 G A SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known silent c.1707 p.C569 0.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 58 0 0 8 31 79.4872 CTNNB1 0 genome.wustl.edu 37 3 41266103 41266103 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 3 41266103 41266103 G A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.100 p.G34R 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 46 0 0 4 14 77.7778 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 238 0 0 53 41 43.617 GRM2 0 genome.wustl.edu 37 3 51749353 51749353 + Missense_Mutation SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 3 51749353 51749353 T C SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1564 p.C522R 1.000 pfam_GPCR_3_9-Cys_dom 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_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 51 0 0 23 2 8 FAT4 0 genome.wustl.edu 37 4 126239828 126239828 + Missense_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 4 126239828 126239828 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.2262 p.E754D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin 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 55 0 0 54 12 18.1818 C4orf29 0 genome.wustl.edu 37 4 128951826 128951826 + Missense_Mutation SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 4 128951826 128951826 A G SNP C4orf29 ENST00000398965 human ensembl 74_37 +1 known missense c.1240 p.R414G 1.000 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC ENSG00000164074 63 0 0 42 3 6.66667 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 139 0 0 52 43 45.2632 PCDHA9 0 genome.wustl.edu 37 5 140230532 140230532 + Nonsense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 5 140230532 140230532 C T SNP PCDHA9 ENST00000378122 human ensembl 74_37 +1 known nonsense c.2452 p.R818* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 138 1 0.719424 98 30 23.4375 ADRB2 0 genome.wustl.edu 37 5 148207465 148207465 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 5 148207465 148207465 C T SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known silent c.1071 p.N357 0.608 prints_ADRB2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 71 0 0 20 26 56.5217 MYOZ3 0 genome.wustl.edu 37 5 150050196 150050196 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 5 150050196 150050196 G A SNP MYOZ3 ENST00000297130 human ensembl 74_37 +1 known missense c.212 p.R71Q 0.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ3 HGNC ENSG00000164591 36 0 0 13 6 31.5789 FAM153A 0 genome.wustl.edu 37 5 177156542 177156542 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 5 177156542 177156542 G T SNP FAM153A ENST00000360669 human ensembl 74_37 -1 known missense c.646 p.L216M 0.000 NULL prints_FAM153 - no_errors FAM153A HGNC ENSG00000170074 269 0 0 127 27 17.5325 IYD 0 genome.wustl.edu 37 6 150710675 150710675 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 150710675 150710675 G A SNP IYD ENST00000229447 human ensembl 74_37 +1 known silent c.366 p.T122 0.546 pfam_Nitroreductase-like,superfamily_Nitroreductase-like pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 86 0 0 55 27 32.9268 SMOC2 0 genome.wustl.edu 37 6 169051410 169051410 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 169051410 169051410 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.990 p.A330 0.923 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 35 0 0 7 3 30 MICA 0 genome.wustl.edu 37 6 31379817 31379817 + Missense_Mutation SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 31379817 31379817 T C SNP MICA ENST00000449934 human ensembl 74_37 +1 known missense c.707 p.I236T 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICA HGNC ENSG00000204520 58 0 0 20 3 13.0435 DDX43 0 genome.wustl.edu 37 6 74110065 74110065 + Missense_Mutation SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 74110065 74110065 T G SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.415 p.Y139D 0.015 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 51 0 0 54 6 10 C6orf165 0 genome.wustl.edu 37 6 88119576 88119576 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 88119576 88119576 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.19 p.E7K 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 51 0 0 41 12 22.6415 C6orf165 0 genome.wustl.edu 37 6 88125542 88125542 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 88125542 88125542 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.422 p.R141H 0.998 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 44 0 0 38 13 25.4902 LRRC17 0 genome.wustl.edu 37 7 102584659 102584659 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 7 102584659 102584659 G A SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.931 p.A311T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 83 0 0 96 29 23.2 ST7 0 genome.wustl.edu 37 7 116811007 116811007 + Missense_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 7 116811007 116811007 A C SNP ST7 ENST00000265437 human ensembl 74_37 +1 known missense c.1055 p.Q352P 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 67 0 0 45 9 16.6667 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 166 1 0.598802 95 30 24 KLHL7 0 genome.wustl.edu 37 7 23183596 23183596 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 7 23183596 23183596 G C SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.745 p.A249P 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 72 0 0 40 47 54.023 C8orf74 0 genome.wustl.edu 37 8 10555329 10555329 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 8 10555329 10555329 C T SNP C8orf74 ENST00000304519 human ensembl 74_37 +1 known silent c.462 p.A154 0.001 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 143 0 0 74 23 23.7113 KCNQ3 0 genome.wustl.edu 37 8 133192544 133192544 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 8 133192544 133192544 C A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.637 p.V213F 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 146 0 0 68 15 18.0723 TUSC3 0 genome.wustl.edu 37 8 15600974 15600974 + RNA SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 8 15600974 15600974 T C SNP TUSC3 ENST00000508446 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors TUSC3 HGNC ENSG00000104723 50 0 0 37 11 22.9167 OTUD6B 0 genome.wustl.edu 37 8 92097059 92097059 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 8 92097059 92097059 C T SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known missense c.935 p.T312I 0.996 pfscan_OTU pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 13 0 0 19 2 9.52381 ZER1 0 genome.wustl.edu 37 9 131503885 131503885 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 9 131503885 131503885 C T SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.1666 p.D556N 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 144 0 0 124 20 13.8889 NOTCH1 0 genome.wustl.edu 37 9 139391079 139391079 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 9 139391079 139391079 G C SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.7112 p.T2371S 0.979 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 139 0 0 78 51 39.5349 TPRN 0 genome.wustl.edu 37 9 140093635 140093635 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 9 140093635 140093635 C A SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1529 p.G510V 0.096 NULL NULL - no_errors TPRN HGNC ENSG00000176058 118 0 0 32 47 59.4937 TLN1 0 genome.wustl.edu 37 9 35715063 35715063 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 9 35715063 35715063 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.2747 p.R916H 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 223 0 0 138 25 15.3374 AK3 0 genome.wustl.edu 37 9 4740941 4740941 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 9 4740941 4740941 G A SNP AK3 ENST00000381809 human ensembl 74_37 -1 known silent c.147 p.G49 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 27 0 0 14 4 22.2222 MT-RNR1 0 genome.wustl.edu 37 MT 847 847 + RNA SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 MT 847 847 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 400 0 0 0 4 100 ACTRT1 0 genome.wustl.edu 37 X 127185409 127185409 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 127185409 127185409 G A SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known silent c.777 p.P259 0.587 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 106 0 0 13 128 90.7801 SMARCA1 0 genome.wustl.edu 37 X 128622973 128622973 + Nonsense_Mutation SNP T T A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 128622973 128622973 T A SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known nonsense c.2038 p.K680* 1.000 superfamily_P-loop_NTPase 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 28 0 0 6 48 88.8889 PLXNA3 0 genome.wustl.edu 37 X 153698478 153698478 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 153698478 153698478 G A SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.4954 p.E1652K 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 58 0 0 3 29 90.625 USP9X 0 genome.wustl.edu 37 X 41000004 41000004 + Silent SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 41000004 41000004 A G SNP USP9X ENST00000324545 human ensembl 74_37 +1 known silent c.750 p.Q250 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 26 0 0 2 36 94.7368 TBX22 0 genome.wustl.edu 37 X 79283522 79283522 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 79283522 79283522 C T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.896 p.P299L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 33 0 0 39 4 9.30233 FAM46C 0 genome.wustl.edu 37 1 118165775 118165775 + Frame_Shift_Del DEL C C - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 118165775 118165775 C - DEL FAM46C ENST00000369448 human ensembl 74_37 +1 known frame_shift_del c.285 p.H96fs 0.974 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46C HGNC ENSG00000183508 166 0 0 46 37 44.5783 MAPKAPK2 0 genome.wustl.edu 37 1 206858676 206858678 + In_Frame_Del DEL GCC GCC - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 206858676 206858678 GCC - DEL MAPKAPK2 ENST00000367103 human ensembl 74_37 +1 known in_frame_del c.102_104 p.P38in_frame_del 0.960:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 16 0 0 5 2 28.5714 ARID1A 0 genome.wustl.edu 37 1 27100852 27100852 + Frame_Shift_Del DEL C C - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 1 27100852 27100852 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4134 p.P1379fs 0.998 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 68 0 0 23 19 45.2381 OR6C76 0 genome.wustl.edu 37 12 55820958 55820959 + Frame_Shift_Ins INS - - A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 12 55820958 55820959 - A INS OR6C76 ENST00000328314 human ensembl 74_37 +1 known frame_shift_ins c.921_922 p.K311fs 0.003:0.016 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 24 0 0 25 5 16.6667 HCRT 0 genome.wustl.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 17 40336501 40336503 GCA - DEL HCRT ENST00000293330 human ensembl 74_37 -1 known in_frame_del c.67_65 p.L22in_frame_del 0.998:0.999:1.000 pfam_Orexin,pirsf_Orexin pfam_Orexin,pirsf_Orexin,prints_Orexin - no_errors HCRT HGNC ENSG00000161610 21 0 0 6 3 33.3333 VMO1 0 genome.wustl.edu 37 17 4689195 4689195 + Splice_Site DEL C C - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 17 4689195 4689195 C - DEL VMO1 ENST00000441199 human ensembl 74_37 -1 known splice_site_del c.345+1 e2+1 0.000 - - - no_errors VMO1 HGNC ENSG00000182853 53 0 0 17 2 10.5263 PRKCA 0 genome.wustl.edu 37 17 64683380 64683397 + Splice_Site DEL TACATTGTAAGTGGTCTC TACATTGTAAGTGGTCTC - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 TACATTGTAAGTGGTCTC TACATTGTAAGTGGTCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 17 64683380 64683397 TACATTGTAAGTGGTCTC - DEL PRKCA ENST00000413366 human ensembl 74_37 +1 known splice_site_del c.686+7_686+1 e7-1 0.884:0.962:0.923:0.001:0.997:1.000:1.000:1.000:1.000:1.000:1.000:0.991:0.008:0.000:0.000:0.009:0.009:0.002 - - - no_errors PRKCA HGNC ENSG00000154229 94 0 0 37 23 38.3333 RIPK4 0 genome.wustl.edu 37 21 43165916 43165917 + Splice_Site INS - - A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 21 43165916 43165917 - A INS RIPK4 ENST00000352483 human ensembl 74_37 -1 known splice_site_ins c.1080+2_1080+1 e7+2 0.080:0.979 - - - no_errors RIPK4 HGNC ENSG00000183421 109 0 0 45 28 38.3562 PPP1R2P1 0 genome.wustl.edu 37 6 32847310 32847310 + RNA DEL C C - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 6 32847310 32847310 C - DEL PPP1R2P1 ENST00000420261 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PPP1R2P1 HGNC ENSG00000234515 27 0 0 22 3 12 RNF128 0 genome.wustl.edu 37 X 105937253 105937254 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 105937253 105937254 CA - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.21_22 p.S8fs 0.000:0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 28 0 0 4 26 86.6667 PLXNB3 0 genome.wustl.edu 37 X 153042690 153042691 + Frame_Shift_Ins INS - - G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 X 153042690 153042691 - G INS PLXNB3 ENST00000538966 human ensembl 74_37 +1 known frame_shift_ins c.5024_5025 p.V1678fs 0.998:0.849 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 10 0 0 8 3 27.2727