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 ENSG00000203849 0 genome.wustl.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 142713773 142713773 C G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 125 1 0.793651 73 5 6.41026 ENSG00000203849 0 genome.wustl.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 142713774 142713774 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 128 1 0.775194 73 5 6.41026 ASH1L 0 genome.wustl.edu 37 1 155408474 155408474 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 155408474 155408474 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.5472 p.D1824 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 259 0 0 226 19 7.7551 SPTA1 0 genome.wustl.edu 37 1 158623116 158623116 + Nonsense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 158623116 158623116 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known nonsense c.3136 p.R1046* 0.009 superfamily_SH3_domain,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 178 0 0 113 19 14.3939 CLCNKA 0 genome.wustl.edu 37 1 16359716 16359716 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 16359716 16359716 C T SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known missense c.1981 p.R661W 0.032 pfam_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 419 0 0 119 42 26.087 LRRC52 0 genome.wustl.edu 37 1 165513859 165513859 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 165513859 165513859 G C SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known missense c.326 p.S109T 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 325 0 0 253 24 8.66426 DSTYK 0 genome.wustl.edu 37 1 205132996 205132996 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 205132996 205132996 C T SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.1412 p.R471Q 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 DSTYK HGNC ENSG00000133059 175 0 0 65 21 24.4186 TRAF3IP3 0 genome.wustl.edu 37 1 209933511 209933511 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 209933511 209933511 C T SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.127 p.R43C 1.000 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 76 0 0 27 15 35.7143 CENPF 0 genome.wustl.edu 37 1 214818018 214818018 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 214818018 214818018 T A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.5105 p.L1702H 0.002 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 78 0 0 63 9 12.5 TLR5 0 genome.wustl.edu 37 1 223285526 223285526 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 223285526 223285526 G C SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.848 p.A283G 0.077 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 98 0 0 92 9 8.91089 CLSTN1 0 genome.wustl.edu 37 1 9809625 9809625 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 1 9809625 9809625 G C SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.879 p.D293E 0.008 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 156 0 0 95 9 8.65385 ABCC2 0 genome.wustl.edu 37 10 101590129 101590129 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 101590129 101590129 G A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.2686 p.E896K 0.141 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 185 0 0 106 22 17.1875 GFRA1 0 genome.wustl.edu 37 10 117884945 117884945 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 117884945 117884945 A G SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.557 p.V186A 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 46 0 0 30 11 26.8293 NKX6-2 0 genome.wustl.edu 37 10 134598811 134598811 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 134598811 134598811 C T SNP NKX6-2 ENST00000368592 human ensembl 74_37 -1 known silent c.552 p.S184 0.854 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-2 HGNC ENSG00000148826 76 0 0 19 4 17.3913 ZWINT 0 genome.wustl.edu 37 10 58120068 58120068 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 58120068 58120068 C G SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.118 p.V40L 0.990 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 78 0 0 39 9 18.75 HK1 0 genome.wustl.edu 37 10 71142523 71142523 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 71142523 71142523 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.1651 p.V551I 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 48 0 0 21 4 16 SAR1A 0 genome.wustl.edu 37 10 71921409 71921409 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 71921409 71921409 G C SNP SAR1A ENST00000373238 human ensembl 74_37 -1 known missense c.144 p.D48E 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1A HGNC ENSG00000079332 111 0 0 76 17 18.2796 BTAF1 0 genome.wustl.edu 37 10 93753597 93753597 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 93753597 93753597 T A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.3192 p.N1064K 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 51 0 0 27 5 15.625 RBP4 0 genome.wustl.edu 37 10 95360237 95360237 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 10 95360237 95360237 C T SNP RBP4 ENST00000371464 human ensembl 74_37 -1 known missense c.268 p.D90N 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd/Purpurin,prints_Lipocalin - no_errors RBP4 HGNC ENSG00000138207 185 1 0.537634 65 15 18.75 BIRC2 0 genome.wustl.edu 37 11 102220931 102220931 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 102220931 102220931 C G SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.346 p.L116V 0.059 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 169 0 0 127 22 14.7651 BCL9L 0 genome.wustl.edu 37 11 118771876 118771876 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 118771876 118771876 A G SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.2576 p.M859T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 130 0 0 72 11 13.253 SORL1 0 genome.wustl.edu 37 11 121495981 121495981 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 121495981 121495981 G C SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.6359 p.G2120A 0.996 NULL pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 109 0 0 57 11 16.1765 LIN7C 0 genome.wustl.edu 37 11 27528282 27528282 + Silent SNP T T C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 27528282 27528282 T C SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known silent c.18 p.E6 0.998 pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 215 0 0 70 4 5.40541 TSSC2 0 genome.wustl.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 3427845 3427845 C T SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC ENSG00000223756 101 1 0.980392 43 4 8.51064 PTPRJ 0 genome.wustl.edu 37 11 48177352 48177352 + Splice_Site SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 48177352 48177352 G C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known splice_site c.3230-1 e20-1 1.000 - - - no_errors PTPRJ HGNC ENSG00000149177 59 0 0 39 5 11.3636 DTX4 0 genome.wustl.edu 37 11 58956751 58956751 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 58956751 58956751 G T SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.1114 p.V372F 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 12 0 0 9 4 30.7692 MS4A15 0 genome.wustl.edu 37 11 60531284 60531284 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 60531284 60531284 G A SNP MS4A15 ENST00000405633 human ensembl 74_37 +1 known silent c.78 p.P26 0.931 NULL pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 275 0 0 108 17 13.6 SCGB2A2 0 genome.wustl.edu 37 11 62037723 62037723 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 62037723 62037723 T A SNP SCGB2A2 ENST00000227918 human ensembl 74_37 +1 known missense c.35 p.L12H 0.765 pfam_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB2A2 HGNC ENSG00000110484 361 0 0 129 21 14 KCTD21 0 genome.wustl.edu 37 11 77884828 77884828 + Missense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 77884828 77884828 C A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.773 p.R258L 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 221 0 0 116 13 10.0775 GRM5 0 genome.wustl.edu 37 11 88781018 88781018 + Nonsense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 88781018 88781018 G C SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known nonsense c.23 p.S8* 1.000 prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 66 0 0 58 7 10.7692 SESN3 0 genome.wustl.edu 37 11 94923017 94923017 + Silent SNP T T G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 94923017 94923017 T G SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known silent c.451 p.R151 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 87 0 0 56 7 11.1111 TAS2R20 0 genome.wustl.edu 37 12 11150144 11150144 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 11150144 11150144 C T SNP TAS2R20 ENST00000538986 human ensembl 74_37 -1 known missense c.331 p.V111I 0.821 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R20 HGNC ENSG00000255837 184 0 0 99 16 13.913 TAS2R43 0 genome.wustl.edu 37 12 11244166 11244166 + Silent SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 11244166 11244166 G C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known silent c.663 p.T221 0.185 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 63 0 0 48 5 9.43396 TAS2R43 0 genome.wustl.edu 37 12 11244194 11244194 + Missense_Mutation SNP T T C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 11244194 11244194 T C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.635 p.H212R 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 34 0 0 19 10 34.4828 NCOR2 0 genome.wustl.edu 37 12 124827739 124827739 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 124827739 124827739 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.4769 p.R1590Q 0.976 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 70 0 0 23 4 14.8148 POLE 0 genome.wustl.edu 37 12 133209266 133209266 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 133209266 133209266 C G SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.6120 p.A2040 0.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 95 0 0 34 5 12.8205 PLBD1 0 genome.wustl.edu 37 12 14664633 14664633 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 14664633 14664633 G C SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.857 p.S286C 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 78 0 0 56 13 18.8406 KMT2D 0 genome.wustl.edu 37 12 49421805 49421805 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 49421805 49421805 T A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.14502 p.E4834D 0.890 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 112 0 0 35 8 18.6047 NTF3 0 genome.wustl.edu 37 12 5603686 5603686 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 5603686 5603686 G A SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known silent c.345 p.P115 0.966 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 132 0 0 67 11 14.1026 OS9 0 genome.wustl.edu 37 12 58090082 58090082 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 58090082 58090082 C T SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.505 p.R169C 1.000 pfam_PRKCSH pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 123 0 0 57 7 10.9375 TSFM 0 genome.wustl.edu 37 12 58176625 58176625 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 58176625 58176625 G A SNP TSFM ENST00000323833 human ensembl 74_37 +1 known missense c.41 p.R14Q 0.003 NULL pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like - no_errors TSFM HGNC ENSG00000123297 11 0 0 4 2 33.3333 IRAK3 0 genome.wustl.edu 37 12 66638317 66638317 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 12 66638317 66638317 C G SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known silent c.939 p.A313 0.997 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 168 0 0 89 17 16.0377 SGCG 0 genome.wustl.edu 37 13 23824841 23824841 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 13 23824841 23824841 G A SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.370 p.G124S 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 50 0 0 17 4 19.0476 B3GALTL 0 genome.wustl.edu 37 13 31891748 31891748 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 13 31891748 31891748 G A SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known silent c.1110 p.E370 0.744 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 148 0 0 82 11 11.828 COG6 0 genome.wustl.edu 37 13 40251606 40251606 + Nonsense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 13 40251606 40251606 C T SNP COG6 ENST00000455146 human ensembl 74_37 +1 known nonsense c.430 p.Q144* 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 65 0 0 48 8 14.2857 PCDH20 0 genome.wustl.edu 37 13 61987362 61987362 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 13 61987362 61987362 G C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.870 p.I290M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 99 0 0 68 18 20.9302 SLC7A8 0 genome.wustl.edu 37 14 23652065 23652065 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 14 23652065 23652065 T A SNP SLC7A8 ENST00000316902 human ensembl 74_37 -1 known missense c.59 p.E20V 0.345 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A8 HGNC ENSG00000092068 315 0 0 163 29 15.1042 CMTM5 0 genome.wustl.edu 37 14 23848585 23848585 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 14 23848585 23848585 C G SNP CMTM5 ENST00000339180 human ensembl 74_37 +1 known silent c.651 p.A217 0.076 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 188 0 0 74 17 18.6813 G2E3 0 genome.wustl.edu 37 14 31071327 31071327 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 14 31071327 31071327 G C SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.1000 p.D334H 0.332 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 71 0 0 46 7 13.2075 PSMC1 0 genome.wustl.edu 37 14 90735757 90735757 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 14 90735757 90735757 G A SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.898 p.G300S 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 125 0 0 86 16 15.6863 UBE3A 0 genome.wustl.edu 37 15 25616254 25616254 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 15 25616254 25616254 C T SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.1076 p.R359Q 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 208 0 0 114 31 21.3793 IVD 0 genome.wustl.edu 37 15 40703835 40703835 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 15 40703835 40703835 C G SNP IVD ENST00000487418 human ensembl 74_37 +1 known missense c.641 p.T214R 0.999 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 92 0 0 35 3 7.89474 BAHD1 0 genome.wustl.edu 37 15 40751171 40751171 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 15 40751171 40751171 C T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.508 p.R170W 0.972 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 79 0 0 45 4 8.16327 SPG11 0 genome.wustl.edu 37 15 44888535 44888535 + Missense_Mutation SNP A A C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 15 44888535 44888535 A C SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.4180 p.Y1394D 0.269 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 82 0 0 47 12 20.339 CACNA1H 0 genome.wustl.edu 37 16 1245993 1245993 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 1245993 1245993 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.613 p.R205W 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 176 0 0 41 9 18 CRYM-AS1 0 genome.wustl.edu 37 16 21328460 21328460 + RNA SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 21328460 21328460 C T SNP CRYM-AS1 ENST00000338573 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 77 0 0 69 5 6.75676 MT1M 0 genome.wustl.edu 37 16 56667294 56667294 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 56667294 56667294 G A SNP MT1M ENST00000379818 human ensembl 74_37 +1 known missense c.71 p.C24Y 0.786 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1M HGNC ENSG00000205364 193 0 0 77 12 13.4831 CDH8 0 genome.wustl.edu 37 16 61687567 61687567 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 61687567 61687567 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.2345 p.R782H 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 91 0 0 71 15 17.4419 PDPR 0 genome.wustl.edu 37 16 70190507 70190507 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 70190507 70190507 A T SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.2365 p.I789F 1.000 pfam_GCV_T_C pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 587 1 0.170068 228 22 8.8 RBFOX1 0 genome.wustl.edu 37 16 7568355 7568355 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 7568355 7568355 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known silent c.363 p.A121 0.949 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 206 1 0.483092 140 22 13.5802 DNAH9 0 genome.wustl.edu 37 17 11774939 11774939 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 11774939 11774939 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.10078 p.V3360M 0.993 superfamily_P-loop_NTPase 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 187 0 0 100 17 14.5299 NUFIP2 0 genome.wustl.edu 37 17 27614063 27614063 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 27614063 27614063 C T SNP NUFIP2 ENST00000225388 human ensembl 74_37 -1 known missense c.949 p.D317N 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 250 0 0 125 26 17.2185 STARD3 0 genome.wustl.edu 37 17 37814080 37814080 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 37814080 37814080 G A SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known missense c.350 p.R117Q 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 172 1 0.578035 87 12 12.1212 TCAP 0 genome.wustl.edu 37 17 37822174 37822174 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 37822174 37822174 C T SNP TCAP ENST00000309889 human ensembl 74_37 +1 known missense c.316 p.R106C 1.000 pfam_Telethonin pfam_Telethonin - no_errors TCAP HGNC ENSG00000173991 49 0 0 37 7 15.9091 TCAP 0 genome.wustl.edu 37 17 37822311 37822311 + Silent SNP A A C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 37822311 37822311 A C SNP TCAP ENST00000309889 human ensembl 74_37 +1 known silent c.453 p.A151 0.939 pfam_Telethonin pfam_Telethonin - no_errors TCAP HGNC ENSG00000173991 221 0 0 81 12 12.9032 ERBB2 0 genome.wustl.edu 37 17 37884037 37884037 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 37884037 37884037 C G SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.3508 p.P1170A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 88 0 0 51 7 12.069 KRT12 0 genome.wustl.edu 37 17 39023097 39023097 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 39023097 39023097 C T SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known silent c.342 p.S114 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 460 0 0 173 33 16.0194 NT5C3B 0 genome.wustl.edu 37 17 39992190 39992190 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 39992190 39992190 G T SNP NT5C3B ENST00000269534 human ensembl 74_37 -1 known missense c.8 p.A3D 1.000 tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3B HGNC ENSG00000141698 18 0 0 10 4 28.5714 WNK4 0 genome.wustl.edu 37 17 40935985 40935985 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 40935985 40935985 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known silent c.822 p.P274 0.610 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_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 58 0 0 39 8 17.0213 GFAP 0 genome.wustl.edu 37 17 42989090 42989090 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 42989090 42989090 G A SNP GFAP ENST00000253408 human ensembl 74_37 -1 known missense c.856 p.R286W 1.000 pfam_IF pfam_IF - no_errors GFAP HGNC ENSG00000131095 101 0 0 54 4 6.89655 FMNL1 0 genome.wustl.edu 37 17 43320665 43320665 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 43320665 43320665 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.2191 p.R731C 0.973 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 103 0 0 46 6 11.5385 CAMTA2 0 genome.wustl.edu 37 17 4873788 4873788 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 4873788 4873788 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2921 p.P974L 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 252 0 0 82 23 21.9048 ABCA10 0 genome.wustl.edu 37 17 67212089 67212089 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 67212089 67212089 C G SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.725 p.G242A 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 149 0 0 73 10 12.0482 TMC8 0 genome.wustl.edu 37 17 76129507 76129507 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 76129507 76129507 C G SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known silent c.552 p.L184 0.997 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 316 0 0 70 18 20.4545 SOCS3 0 genome.wustl.edu 37 17 76354545 76354545 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 76354545 76354545 G A SNP SOCS3 ENST00000330871 human ensembl 74_37 -1 known missense c.632 p.P211L 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 147 0 0 48 8 14.2857 DNAH2 0 genome.wustl.edu 37 17 7662770 7662770 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 17 7662770 7662770 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.2479 p.R827W 0.699 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 137 0 0 58 16 21.6216 EMILIN2 0 genome.wustl.edu 37 18 2913136 2913136 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 18 2913136 2913136 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.2896 p.V966L 0.996 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 149 0 0 45 13 22.4138 EPB41L3 0 genome.wustl.edu 37 18 5415871 5415871 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 18 5415871 5415871 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2013 p.A671 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 92 0 0 51 7 12.069 FAM129C 0 genome.wustl.edu 37 19 17644500 17644500 + Silent SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 17644500 17644500 T A SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known silent c.510 p.P170 0.030 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 148 0 0 55 6 9.83607 IGFLR1 0 genome.wustl.edu 37 19 36231285 36231285 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 36231285 36231285 C T SNP IGFLR1 ENST00000246532 human ensembl 74_37 -1 known missense c.338 p.R113K 0.001 NULL superfamily_DEATH-like_dom - no_errors IGFLR1 HGNC ENSG00000126246 67 0 0 25 12 32.4324 CYP2S1 0 genome.wustl.edu 37 19 41704707 41704707 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 41704707 41704707 C T SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.748 p.R250W 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 180 0 0 104 36 25.7143 SPHK2 0 genome.wustl.edu 37 19 49132886 49132886 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 49132886 49132886 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known silent c.2007 p.A669 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 20 0 0 14 4 22.2222 MAMSTR 0 genome.wustl.edu 37 19 49217246 49217246 + Silent SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 49217246 49217246 C A SNP MAMSTR ENST00000318083 human ensembl 74_37 -1 known silent c.780 p.P260 0.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors MAMSTR HGNC ENSG00000176909 61 0 0 59 4 6.34921 TEAD2 0 genome.wustl.edu 37 19 49858438 49858438 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 49858438 49858438 G T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.494 p.S165Y 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 38 0 0 28 3 9.67742 MADCAM1 0 genome.wustl.edu 37 19 501762 501762 + Missense_Mutation SNP A A C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 501762 501762 A C SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.761 p.Q254P 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 48 0 0 19 3 13.6364 ZNF677 0 genome.wustl.edu 37 19 53741803 53741803 + Silent SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 53741803 53741803 A G SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known silent c.177 p.S59 0.057 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF677 HGNC ENSG00000197928 90 0 0 66 24 26.6667 PRKCG 0 genome.wustl.edu 37 19 54401213 54401213 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 54401213 54401213 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.940 p.R314W 0.996 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 319 0 0 213 22 9.3617 PRPF31 0 genome.wustl.edu 37 19 54621676 54621676 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 54621676 54621676 G A SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known silent c.18 p.E6 1.000 NULL pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 202 0 0 112 14 11.1111 CNOT3 0 genome.wustl.edu 37 19 54657452 54657452 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 54657452 54657452 G T SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.2038 p.G680C 1.000 pfam_NOT,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 119 0 0 57 16 21.9178 KIR3DL1 0 genome.wustl.edu 37 19 55329954 55329954 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 55329954 55329954 G A SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known silent c.255 p.V85 0.148 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 127 0 0 66 13 16.4557 AURKC 0 genome.wustl.edu 37 19 57746683 57746683 + Nonsense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 57746683 57746683 C A SNP AURKC ENST00000302804 human ensembl 74_37 +1 known nonsense c.828 p.Y276* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKC HGNC ENSG00000105146 115 0 0 82 7 7.86517 ZSCAN18 0 genome.wustl.edu 37 19 58601477 58601477 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 58601477 58601477 C T SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.326 p.R109Q 0.749 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 111 0 0 44 14 24.1379 MUC16 0 genome.wustl.edu 37 19 9087354 9087354 + Silent SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 19 9087354 9087354 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.4461 p.A1487 0.107 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 377 0 0 169 39 18.75 MBD5 0 genome.wustl.edu 37 2 149240903 149240903 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 149240903 149240903 A T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2743 p.N915Y 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 346 0 0 186 33 15.0685 SCN1A 0 genome.wustl.edu 37 2 166848344 166848344 + Missense_Mutation SNP T T G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 166848344 166848344 T G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5441 p.K1814T 1.000 prints_Na_channel_asu pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 249 0 0 160 25 13.5135 HOXD4 0 genome.wustl.edu 37 2 177017437 177017437 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 177017437 177017437 C G SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.535 p.L179V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 126 0 0 73 7 8.75 HSPD1 0 genome.wustl.edu 37 2 198353801 198353801 + Silent SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 198353801 198353801 G C SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known silent c.1140 p.V380 0.947 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 152 0 0 100 20 16.6667 CASP8 0 genome.wustl.edu 37 2 202151266 202151266 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 202151266 202151266 G C SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.1566 p.M522I 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 88 0 0 53 5 8.62069 COL6A3 0 genome.wustl.edu 37 2 238249128 238249128 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 238249128 238249128 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.8431 p.R2811C 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 102 0 0 46 6 11.5385 CLIP4 0 genome.wustl.edu 37 2 29383251 29383251 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 29383251 29383251 A T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.1452 p.E484D 0.001 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 123 0 0 65 11 14.4737 VRK2 0 genome.wustl.edu 37 2 58386567 58386567 + Silent SNP T T C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 58386567 58386567 T C SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known silent c.1266 p.Y422 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 121 0 0 64 4 5.88235 MAL 0 genome.wustl.edu 37 2 95713846 95713846 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 95713846 95713846 G T SNP MAL ENST00000309988 human ensembl 74_37 +1 known missense c.236 p.G79V 0.066 pfam_Marvel pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 82 0 0 30 6 16.6667 CPSF3 0 genome.wustl.edu 37 2 9580739 9580739 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 9580739 9580739 C T SNP CPSF3 ENST00000238112 human ensembl 74_37 +1 known missense c.880 p.R294C 1.000 pfam_Beta_Casp pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 162 0 0 104 18 14.7541 ZNF2 0 genome.wustl.edu 37 2 95847608 95847608 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 2 95847608 95847608 C T SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known silent c.1035 p.N345 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 145 0 0 94 10 9.61538 INSM1 0 genome.wustl.edu 37 20 20350144 20350144 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 20 20350144 20350144 C T SNP INSM1 ENST00000310227 human ensembl 74_37 +1 known silent c.1233 p.Y411 0.085 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM1 HGNC ENSG00000173404 16 0 0 8 3 27.2727 GGTLC1 0 genome.wustl.edu 37 20 23967200 23967200 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 20 23967200 23967200 C T SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.49 p.D17N 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 156 1 0.636943 76 8 9.52381 EPB41L1 0 genome.wustl.edu 37 20 34775685 34775685 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 20 34775685 34775685 G C SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.873 p.K291N 1.000 pirsf_Band_41_protein,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 47 0 0 25 6 19.3548 SLCO4A1 0 genome.wustl.edu 37 20 61287965 61287965 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 20 61287965 61287965 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known silent c.159 p.D53 0.026 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 13 0 0 11 5 31.25 DIDO1 0 genome.wustl.edu 37 20 61542173 61542173 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 20 61542173 61542173 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.792 p.Y264 0.933 superfamily_Znf_FYVE_PHD pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 258 0 0 143 21 12.8049 ARVCF 0 genome.wustl.edu 37 22 19967604 19967604 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 22 19967604 19967604 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1058 p.P353L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 16 0 0 7 3 30 ZDHHC8 0 genome.wustl.edu 37 22 20131089 20131089 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 22 20131089 20131089 C T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.1936 p.L646 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 38 0 0 19 2 9.52381 EFCAB6 0 genome.wustl.edu 37 22 43933323 43933323 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 22 43933323 43933323 G T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.3982 p.L1328I 0.006 smart_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 237 0 0 90 28 23.7288 CEP63 0 genome.wustl.edu 37 3 134276999 134276999 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 3 134276999 134276999 C G SNP CEP63 ENST00000337090 human ensembl 74_37 +1 known missense c.1483 p.L495V 1.000 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 166 0 0 88 13 12.8713 GNL3 0 genome.wustl.edu 37 3 52725622 52725622 + Silent SNP T T G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 3 52725622 52725622 T G SNP GNL3 ENST00000418458 human ensembl 74_37 +1 known silent c.846 p.V282 0.574 pfam_GTP_binding_domain,superfamily_P-loop_NTPase pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL3 HGNC ENSG00000163938 87 0 0 49 8 14.0351 PCDH10 0 genome.wustl.edu 37 4 134072398 134072398 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 4 134072398 134072398 G T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1103 p.S368I 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 156 0 0 98 22 18.3333 INPP4B 0 genome.wustl.edu 37 4 143007328 143007328 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 4 143007328 143007328 T A SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.2456 p.K819M 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 89 0 0 40 8 16.6667 FGG 0 genome.wustl.edu 37 4 155533323 155533323 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 4 155533323 155533323 C T SNP FGG ENST00000336098 human ensembl 74_37 -1 known missense c.154 p.A52T 1.000 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 24 0 0 32 6 15.7895 SNORA26 0 genome.wustl.edu 37 4 53579527 53579527 + RNA SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 4 53579527 53579527 G C SNP SNORA26 ENST00000391286 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA26 HGNC ENSG00000212588 199 0 0 93 17 15.4545 PCDHA10 0 genome.wustl.edu 37 5 140237313 140237313 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 5 140237313 140237313 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1680 p.N560 0.958 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 162 0 0 37 22 37.2881 PCDHB2 0 genome.wustl.edu 37 5 140474846 140474846 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 5 140474846 140474846 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.472 p.R158C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 71 0 0 24 14 36.8421 CDH9 0 genome.wustl.edu 37 5 26988325 26988325 + Missense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 5 26988325 26988325 C A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.116 p.G39V 0.052 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 78 0 0 48 32 40 NUP155 0 genome.wustl.edu 37 5 37333694 37333694 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 5 37333694 37333694 C T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known silent c.1389 p.A463 0.997 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 55 0 0 66 5 7.04225 OXCT1 0 genome.wustl.edu 37 5 41862794 41862794 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 5 41862794 41862794 G A SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known missense c.137 p.P46L 1.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 103 0 0 87 7 7.44681 OPRM1 0 genome.wustl.edu 37 6 154439830 154439830 + Nonsense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 154439830 154439830 G T SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known nonsense c.1456 p.E486* 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 267 0 0 87 23 20.9091 PRSS16 0 genome.wustl.edu 37 6 27215755 27215755 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 27215755 27215755 C T SNP PRSS16 ENST00000230582 human ensembl 74_37 +1 known silent c.165 p.A55 0.003 NULL pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 114 0 0 29 6 17.1429 OR2B3 0 genome.wustl.edu 37 6 29054811 29054811 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 29054811 29054811 C T SNP OR2B3 ENST00000377173 human ensembl 74_37 -1 known missense c.215 p.C72Y 0.075 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B3 HGNC ENSG00000204703 165 0 0 101 15 12.931 LRFN2 0 genome.wustl.edu 37 6 40359728 40359728 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 40359728 40359728 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.2324 p.R775Q 0.695 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,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 LRFN2 HGNC ENSG00000156564 117 0 0 51 8 13.5593 MRPS10 0 genome.wustl.edu 37 6 42185576 42185576 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 42185576 42185576 C T SNP MRPS10 ENST00000053468 human ensembl 74_37 -1 known silent c.12 p.R4 0.002 NULL pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom - no_errors MRPS10 HGNC ENSG00000048544 69 0 0 18 4 18.1818 EYS 0 genome.wustl.edu 37 6 66204885 66204885 + Missense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 66204885 66204885 C A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.419 p.W140L 1.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 85 0 0 72 11 13.253 RIMS1 0 genome.wustl.edu 37 6 72984077 72984077 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 6 72984077 72984077 A T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3424 p.R1142W 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 59 0 0 28 7 20 FLNC 0 genome.wustl.edu 37 7 128487899 128487899 + Silent SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 128487899 128487899 G C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.4437 p.V1479 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 192 0 0 70 13 15.6627 LOC154761 0 genome.wustl.edu 37 7 143510117 143510117 + RNA SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 143510117 143510117 G A SNP LOC154761 ENST00000481651 human ensembl 74_37 -1 putative rna NULL NULL 0.958 - - - no_errors RP11-61L23.2 Clone_based_vega_gene ENSG00000253882 68 0 0 45 4 8.16327 KRBA1 0 genome.wustl.edu 37 7 149430833 149430833 + Silent SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 149430833 149430833 T A SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known silent c.2787 p.S929 0.788 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 16 0 0 2 2 50 GIMAP1 0 genome.wustl.edu 37 7 150417616 150417616 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 150417616 150417616 G A SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.524 p.R175H 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 133 0 0 55 13 19.1176 NUPL2 0 genome.wustl.edu 37 7 23221774 23221774 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 23221774 23221774 G C SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known missense c.70 p.G24R 0.014 smart_Znf_CCCH smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 43 0 0 30 4 11.7647 OSBPL3 0 genome.wustl.edu 37 7 24905023 24905023 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 24905023 24905023 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.611 p.G204D 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 279 0 0 195 60 23.5294 POM121L12 0 genome.wustl.edu 37 7 53103907 53103907 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 53103907 53103907 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known silent c.543 p.A181 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 92 0 0 48 7 12.7273 INTS4L1 0 genome.wustl.edu 37 7 64661070 64661070 + RNA SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 64661070 64661070 G A SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors INTS4L1 HGNC ENSG00000164669 38 0 0 27 4 12.9032 POM121 0 genome.wustl.edu 37 7 72399003 72399003 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 72399003 72399003 A T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.1103 p.K368M 1.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 325 0 0 154 19 10.9827 CDK14 0 genome.wustl.edu 37 7 90419944 90419944 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 90419944 90419944 C T SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.521 p.T174I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 110 1 0.900901 72 6 7.69231 FZD1 0 genome.wustl.edu 37 7 90896065 90896065 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 7 90896065 90896065 G A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1870 p.G624S 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 125 0 0 57 14 19.7183 ZFPM2 0 genome.wustl.edu 37 8 106814853 106814853 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 8 106814853 106814853 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2543 p.K848R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 28 0 0 19 4 17.3913 PARP10 0 genome.wustl.edu 37 8 145059422 145059422 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 8 145059422 145059422 G C SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.748 p.L250V 0.278 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 70 0 0 26 11 29.7297 ST18 0 genome.wustl.edu 37 8 53073962 53073962 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 8 53073962 53073962 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1567 p.G523R 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 190 0 0 96 25 20.6612 C8orf34 0 genome.wustl.edu 37 8 69434170 69434170 + Nonsense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 8 69434170 69434170 G A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known nonsense c.902 p.W301* 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 109 0 0 41 6 12.766 ZNF704 0 genome.wustl.edu 37 8 81605248 81605248 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 8 81605248 81605248 G A SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known missense c.316 p.R106W 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 56 0 0 25 12 32.4324 GOLGA1 0 genome.wustl.edu 37 9 127643517 127643517 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 9 127643517 127643517 G C SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known missense c.2156 p.A719G 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 227 0 0 120 19 13.6691 CNTLN 0 genome.wustl.edu 37 9 17484457 17484457 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 9 17484457 17484457 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.4020 p.I1340M 0.979 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 153 0 0 69 13 15.8537 ARSD 0 genome.wustl.edu 37 X 2825403 2825403 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 X 2825403 2825403 A G SNP ARSD ENST00000381154 human ensembl 74_37 -1 known missense c.1691 p.M564T 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 45 0 0 24 3 11.1111 XIST 0 genome.wustl.edu 37 X 73063365 73063365 + RNA SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 X 73063365 73063365 A T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 43 0 0 22 8 26.6667 OR52J3 0 genome.wustl.edu 37 11 5068474 5068484 + Frame_Shift_Del DEL GCACGTGTGGC GCACGTGTGGC - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 GCACGTGTGGC GCACGTGTGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 11 5068474 5068484 GCACGTGTGGC - DEL OR52J3 ENST00000380370 human ensembl 74_37 +1 known frame_shift_del c.719_729 p.T241fs 0.782:1.000:1.000:0.999:0.126:0.939:0.948:0.742:0.180:0.030:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 233 0 0 141 10 6.62252 NBEA 0 genome.wustl.edu 37 13 35731227 35731230 + Frame_Shift_Del DEL GTGT GTGT - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 13 35731227 35731230 GTGT - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.2664_2667 p.Q888fs 1.000:1.000:1.000:1.000 superfamily_ARM-type_fold 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 357 0 0 153 18 10.5263 B2M 0 genome.wustl.edu 37 15 45007747 45007751 + Frame_Shift_Del DEL GAATT GAATT - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 GAATT GAATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 15 45007747 45007751 GAATT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.194_198 p.I66fs 0.005:0.001:0.005:0.013:0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 267 0 0 126 14 10 CENPN 0 genome.wustl.edu 37 16 81061838 81061838 + Frame_Shift_Del DEL C C - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 16 81061838 81061838 C - DEL CENPN ENST00000393335 human ensembl 74_37 +1 putative frame_shift_del c.873 p.R292fs 0.999 pfam_Chl4/mis15/CENP-N pfam_Chl4/mis15/CENP-N - no_errors CENPN HGNC ENSG00000166451 104 0 0 66 12 15.3846