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 PTCHD2 0 genome.wustl.edu 37 1 11596541 11596541 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 11596541 11596541 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3977 p.T1326M 0.999 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 83 0 0 40 5 11.1111 MTHFR 0 genome.wustl.edu 37 1 11851278 11851278 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 11851278 11851278 A G SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.1861 p.F621L 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 142 1 0.699301 88 9 9.27835 AADACL3 0 genome.wustl.edu 37 1 12785715 12785715 + Missense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 12785715 12785715 C A SNP AADACL3 ENST00000359318 human ensembl 74_37 +1 known missense c.805 p.L269M 0.380 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 217 1 0.458716 134 28 17.284 NPR1 0 genome.wustl.edu 37 1 153661701 153661701 + Missense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 153661701 153661701 C A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.2602 p.Q868K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 131 1 0.757576 109 55 33.5366 RUSC1 0 genome.wustl.edu 37 1 155300220 155300220 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 155300220 155300220 C G SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.2567 p.T856S 0.054 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 68 0 0 74 6 7.5 SPTA1 0 genome.wustl.edu 37 1 158617463 158617463 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 158617463 158617463 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.3762 p.P1254 0.529 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 121 0 0 110 16 12.6984 OR10J1 0 genome.wustl.edu 37 1 159409696 159409696 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 159409696 159409696 T G SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.148 p.L50V 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 362 0 0 274 30 9.86842 IGSF9 0 genome.wustl.edu 37 1 159904586 159904586 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 159904586 159904586 T G SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.700 p.K234Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 110 0 0 82 8 8.88889 DNM3 0 genome.wustl.edu 37 1 171956837 171956837 + Missense_Mutation SNP G G C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 171956837 171956837 G C SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.277 p.D93H 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 248 0 0 226 15 6.22407 RASAL2 0 genome.wustl.edu 37 1 178269224 178269224 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 178269224 178269224 A C SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.428 p.E143A 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 109 0 0 96 9 8.57143 HMCN1 0 genome.wustl.edu 37 1 186038897 186038897 + Missense_Mutation SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 186038897 186038897 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.7982 p.V2661A 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 38 0 0 22 10 31.25 CACNA1S 0 genome.wustl.edu 37 1 201058563 201058563 + Missense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 201058563 201058563 C A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.723 p.E241D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 42 0 0 25 9 26.4706 FCAMR 0 genome.wustl.edu 37 1 207135614 207135614 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 207135614 207135614 C T SNP FCAMR ENST00000400962 human ensembl 74_37 -1 known missense c.596 p.G199D 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCAMR HGNC ENSG00000162897 137 0 0 116 13 10.0775 TRAF5 0 genome.wustl.edu 37 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 211533309 211533309 G A SNP TRAF5 ENST00000261464 human ensembl 74_37 +1 known missense c.434 p.R145Q 0.048 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC ENSG00000082512 132 0 0 107 17 13.7097 USH2A 0 genome.wustl.edu 37 1 216108128 216108128 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 216108128 216108128 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7130 p.N2377T 0.984 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 140 0 0 119 16 11.8519 USH2A 0 genome.wustl.edu 37 1 216138706 216138706 + Missense_Mutation SNP A A T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 216138706 216138706 A T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7073 p.L2358H 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 231 0 0 178 48 21.2389 C1orf131 0 genome.wustl.edu 37 1 231362782 231362782 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 231362782 231362782 C T SNP C1orf131 ENST00000366649 human ensembl 74_37 -1 known silent c.543 p.T181 0.449 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 80 0 0 80 5 5.88235 OR2T6 0 genome.wustl.edu 37 1 248551739 248551739 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 248551739 248551739 T G SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.830 p.F277C 0.012 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 136 0 0 133 15 10.1351 CEP85 0 genome.wustl.edu 37 1 26584166 26584166 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 26584166 26584166 A G SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known missense c.982 p.S328G 1.000 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 433 0 0 232 36 13.4328 ZMYM6 0 genome.wustl.edu 37 1 35457896 35457896 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 35457896 35457896 G A SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known silent c.2085 p.P695 0.239 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 235 0 0 199 22 9.95475 RLF 0 genome.wustl.edu 37 1 40705333 40705333 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 40705333 40705333 G A SNP RLF ENST00000372771 human ensembl 74_37 +1 known silent c.4959 p.G1653 0.526 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 144 0 0 77 44 36.3636 RNF220 0 genome.wustl.edu 37 1 44878227 44878227 + Nonsense_Mutation SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 44878227 44878227 T A SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known nonsense c.458 p.L153* 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 224 0 0 165 11 6.25 PRKACB 0 genome.wustl.edu 37 1 84650783 84650783 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 84650783 84650783 G T SNP PRKACB ENST00000370685 human ensembl 74_37 +1 known missense c.478 p.D160Y 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 198 0 0 151 17 10.119 BRDT 0 genome.wustl.edu 37 1 92467670 92467670 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 1 92467670 92467670 G A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.2352 p.T784 0.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 117 0 0 63 7 10 C10orf2 0 genome.wustl.edu 37 10 102748498 102748498 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 102748498 102748498 T C SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known silent c.531 p.D177 0.050 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 257 0 0 132 24 15.3846 HABP2 0 genome.wustl.edu 37 10 115341635 115341635 + Missense_Mutation SNP A A T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 115341635 115341635 A T SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known missense c.839 p.D280V 0.904 superfamily_Kringle-like pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 277 0 0 238 23 8.81226 HABP2 0 genome.wustl.edu 37 10 115341702 115341702 + Silent SNP A A T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 115341702 115341702 A T SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known silent c.906 p.G302 0.945 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 245 0 0 201 21 9.45946 CACNB2 0 genome.wustl.edu 37 10 18789833 18789833 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 18789833 18789833 G T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.549 p.R183S 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 101 0 0 67 10 12.987 CACNB2 0 genome.wustl.edu 37 10 18795432 18795432 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 18795432 18795432 G T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.626 p.G209V 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 114 0 0 77 7 8.33333 NEBL 0 genome.wustl.edu 37 10 21097588 21097588 + Missense_Mutation SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 21097588 21097588 T A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2612 p.E871V 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 269 1 0.37037 194 25 11.4155 AKR1C3 0 genome.wustl.edu 37 10 5144380 5144380 + Nonsense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 5144380 5144380 G T SNP AKR1C3 ENST00000380554 human ensembl 74_37 +1 known nonsense c.658 p.G220* 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C3 HGNC ENSG00000196139 151 0 0 110 9 7.56303 RUFY2 0 genome.wustl.edu 37 10 70105583 70105583 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 70105583 70105583 C T SNP RUFY2 ENST00000388768 human ensembl 74_37 -1 known missense c.1868 p.R623Q 0.999 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 343 0 0 174 26 13 PALD1 0 genome.wustl.edu 37 10 72291092 72291092 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 72291092 72291092 G A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.515 p.R172H 0.517 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 156 0 0 97 15 13.3929 FRA10AC1 0 genome.wustl.edu 37 10 95441348 95441348 + Nonsense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 95441348 95441348 C A SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known nonsense c.676 p.E226* 1.000 NULL pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 44 0 0 26 6 18.75 TTC12 0 genome.wustl.edu 37 11 113222820 113222820 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 113222820 113222820 C T SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known missense c.1337 p.S446L 0.003 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 82 0 0 60 10 14.2857 OR6T1 0 genome.wustl.edu 37 11 123813599 123813599 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 123813599 123813599 A C SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.947 p.L316R 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 208 0 0 139 18 11.465 ANO3 0 genome.wustl.edu 37 11 26552850 26552850 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 26552850 26552850 A C SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.836 p.Y279S 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 237 0 0 145 25 14.7059 OR52K1 0 genome.wustl.edu 37 11 4510935 4510935 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 4510935 4510935 C T SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.805 p.H269Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 351 0 0 209 39 15.7258 MPEG1 0 genome.wustl.edu 37 11 58978631 58978631 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 58978631 58978631 C T SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1708 p.D570N 0.997 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 180 0 0 116 24 17.1429 CNGA4 0 genome.wustl.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 6265440 6265440 A C SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1529 p.K510T 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 111 0 0 67 7 9.45946 SHANK2 0 genome.wustl.edu 37 11 70506018 70506018 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 70506018 70506018 A G SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.1979 p.F660S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 89 0 0 49 7 12.5 EIF3F 0 genome.wustl.edu 37 11 8016537 8016537 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 8016537 8016537 A G SNP EIF3F ENST00000537635 human ensembl 74_37 +1 known missense c.799 p.I267V 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3F HGNC ENSG00000175390 126 0 0 107 8 6.95652 ST5 0 genome.wustl.edu 37 11 8752389 8752389 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 8752389 8752389 C T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.448 p.V150I 0.092 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 79 0 0 65 16 19.7531 CLEC7A 0 genome.wustl.edu 37 12 10271125 10271125 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 10271125 10271125 A G SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.676 p.S226P 0.005 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 257 0 0 144 19 11.6564 RAD9B 0 genome.wustl.edu 37 12 110943579 110943579 + Splice_Site SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 110943579 110943579 T A SNP RAD9B ENST00000392672 human ensembl 74_37 +1 known splice_site c.273+2 e3+2 1.000 - - - no_errors RAD9B HGNC ENSG00000151164 51 0 0 24 3 11.1111 LRRK2 0 genome.wustl.edu 37 12 40745528 40745528 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 40745528 40745528 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.6569 p.T2190I 0.810 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 49 0 0 49 5 9.25926 PDZRN4 0 genome.wustl.edu 37 12 41966968 41966968 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 41966968 41966968 A C SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.2387 p.K796T 0.757 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 230 0 0 191 25 11.5741 ADCY6 0 genome.wustl.edu 37 12 49168189 49168189 + Missense_Mutation SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 49168189 49168189 T C SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.2279 p.N760S 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 96 0 0 76 10 11.6279 CBX5 0 genome.wustl.edu 37 12 54651321 54651321 + Silent SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 54651321 54651321 T G SNP CBX5 ENST00000209875 human ensembl 74_37 -1 known silent c.114 p.L38 0.946 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 201 0 0 147 11 6.96203 NEUROD4 0 genome.wustl.edu 37 12 55420235 55420235 + Silent SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 55420235 55420235 T G SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known silent c.12 p.T4 0.200 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 102 0 0 49 13 20.9677 OR6C2 0 genome.wustl.edu 37 12 55846327 55846327 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 55846327 55846327 T C SNP OR6C2 ENST00000322678 human ensembl 74_37 +1 known silent c.330 p.F110 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 300 0 0 219 18 7.59494 CD63 0 genome.wustl.edu 37 12 56120706 56120706 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 12 56120706 56120706 C T SNP CD63 ENST00000257857 human ensembl 74_37 -1 known missense c.298 p.A100T 0.158 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD63 HGNC ENSG00000135404 288 1 0.346021 207 21 9.21053 COG6 0 genome.wustl.edu 37 13 40293448 40293448 + Missense_Mutation SNP G G C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 13 40293448 40293448 G C SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.1360 p.A454P 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 114 0 0 52 15 22.3881 SPERT 0 genome.wustl.edu 37 13 46287709 46287709 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 13 46287709 46287709 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known silent c.549 p.R183 0.003 NULL NULL - no_errors SPERT HGNC ENSG00000174015 106 0 0 58 8 12.1212 OR4K15 0 genome.wustl.edu 37 14 20443925 20443925 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 14 20443925 20443925 T G SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.248 p.M83R 1.000 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 OR4K15 HGNC ENSG00000169488 342 0 0 274 71 20.5797 SUPT16H 0 genome.wustl.edu 37 14 21840168 21840168 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 14 21840168 21840168 G A SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known silent c.195 p.I65 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 162 0 0 94 22 18.9655 SYNE2 0 genome.wustl.edu 37 14 64443311 64443311 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 14 64443311 64443311 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.1159 p.A387T 0.005 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 263 0 0 157 46 22.6601 NRXN3 0 genome.wustl.edu 37 14 79117586 79117586 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 14 79117586 79117586 T G SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1132 p.F378V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 208 0 0 125 33 20.8861 SERPINA3 0 genome.wustl.edu 37 14 95081072 95081072 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 14 95081072 95081072 G A SNP SERPINA3 ENST00000393078 human ensembl 74_37 +1 known silent c.294 p.E98 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 165 0 0 81 40 33.0579 ALDH1A3 0 genome.wustl.edu 37 15 101434165 101434165 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 101434165 101434165 T G SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.544 p.F182V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 277 1 0.359712 238 33 12.1771 KNSTRN 0 genome.wustl.edu 37 15 40675071 40675071 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 40675071 40675071 T G SNP KNSTRN ENST00000249776 human ensembl 74_37 +1 known missense c.35 p.V12G 0.000 NULL NULL - no_errors KNSTRN HGNC ENSG00000128944 43 0 0 25 9 26.4706 WDR76 0 genome.wustl.edu 37 15 44127267 44127267 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 44127267 44127267 G A SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known silent c.471 p.S157 0.960 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 164 0 0 104 8 7.14286 SEMA6D 0 genome.wustl.edu 37 15 48051998 48051998 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 48051998 48051998 G T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 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 183 0 0 169 11 6.11111 PARP6 0 genome.wustl.edu 37 15 72533830 72533830 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 72533830 72533830 A G SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known missense c.1859 p.M620T 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 119 0 0 73 11 13.0952 SCAPER 0 genome.wustl.edu 37 15 77064249 77064249 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 77064249 77064249 C T SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.1082 p.R361Q 0.013 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 164 0 0 132 18 12 ZNF592 0 genome.wustl.edu 37 15 85341579 85341579 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 85341579 85341579 C G SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.2610 p.F870L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 204 0 0 143 12 7.74194 NFATC2IP 0 genome.wustl.edu 37 16 28975126 28975126 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 16 28975126 28975126 G A SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known missense c.1202 p.R401K 0.996 pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 109 0 0 60 10 14.2857 NAA60 0 genome.wustl.edu 37 16 3533574 3533574 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 16 3533574 3533574 C T SNP NAA60 ENST00000407558 human ensembl 74_37 +1 known silent c.549 p.G183 0.268 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC ENSG00000122390 100 0 0 39 9 18.75 AKTIP 0 genome.wustl.edu 37 16 53529186 53529186 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 16 53529186 53529186 G A SNP AKTIP ENST00000300245 human ensembl 74_37 -1 known missense c.301 p.R101C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 138 1 0.719424 89 11 11 RBFOX1 0 genome.wustl.edu 37 16 7568390 7568390 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 16 7568390 7568390 C G SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.398 p.T133R 1.000 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 158 0 0 99 13 11.6071 ANKRD11 0 genome.wustl.edu 37 16 89349184 89349184 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 16 89349184 89349184 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.3766 p.H1256Y 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 189 0 0 86 25 22.5225 ULK2 0 genome.wustl.edu 37 17 19687104 19687104 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 17 19687104 19687104 C T SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2366 p.S789N 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 135 1 0.735294 82 18 18 SLFN12 0 genome.wustl.edu 37 17 33749727 33749727 + Silent SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 17 33749727 33749727 C G SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known silent c.321 p.V107 0.833 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 133 0 0 82 12 12.766 CD300LD 0 genome.wustl.edu 37 17 72578366 72578366 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 17 72578366 72578366 G A SNP CD300LD ENST00000375352 human ensembl 74_37 -1 known missense c.464 p.P155L 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LD HGNC ENSG00000204345 75 0 0 62 9 12.6761 TP53 0 genome.wustl.edu 37 17 7579312 7579312 + Silent SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 17 7579312 7579312 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.375 p.T125 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 118 0 0 62 20 24.3902 PIEZO2 0 genome.wustl.edu 37 18 10680265 10680265 + Missense_Mutation SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 18 10680265 10680265 T C SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.1415 p.Q472R 0.973 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 210 0 0 175 29 14.2157 NOL4 0 genome.wustl.edu 37 18 31432850 31432850 + Nonsense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 18 31432850 31432850 G A SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known nonsense c.1873 p.R625* 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 106 0 0 77 23 23 EIF3G 0 genome.wustl.edu 37 19 10230359 10230359 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 10230359 10230359 G T SNP EIF3G ENST00000253108 human ensembl 74_37 -1 known missense c.38 p.A13D 1.000 pirsf_eIF3_g pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 43 0 0 37 6 13.9535 GAMT 0 genome.wustl.edu 37 19 1397406 1397406 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 1397406 1397406 G A SNP GAMT ENST00000252288 human ensembl 74_37 -1 known silent c.663 p.R221 1.000 pirsf_GuanidinoAc_N-MeTrfase pirsf_GuanidinoAc_N-MeTrfase - no_errors GAMT HGNC ENSG00000130005 51 0 0 29 7 19.4444 PGLS 0 genome.wustl.edu 37 19 17628610 17628610 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 17628610 17628610 G A SNP PGLS ENST00000252603 human ensembl 74_37 +1 known missense c.590 p.R197Q 0.874 tigrfam_6-phosphogluconolactonase_DevB tigrfam_6-phosphogluconolactonase_DevB - no_errors PGLS HGNC ENSG00000130313 179 0 0 108 11 9.2437 TM6SF2 0 genome.wustl.edu 37 19 19378459 19378459 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 19378459 19378459 G A SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.775 p.R259W 1.000 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 31 0 0 25 4 13.7931 ZNF728 0 genome.wustl.edu 37 19 23159255 23159255 + Missense_Mutation SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 23159255 23159255 T C SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel missense c.884 p.K295R 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 ZNF728 HGNC ENSG00000269067 130 0 0 69 8 10.3896 C19orf47 0 genome.wustl.edu 37 19 40827891 40827891 + Silent SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 40827891 40827891 C A SNP C19orf47 ENST00000582783 human ensembl 74_37 -1 known silent c.1167 p.L389 1.000 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 63 0 0 31 6 16.2162 SPTBN4 0 genome.wustl.edu 37 19 41063307 41063307 + Nonsense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 41063307 41063307 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known nonsense c.5668 p.Q1890* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 79 0 0 43 5 10.4167 PSG6 0 genome.wustl.edu 37 19 43421880 43421880 + Splice_Site SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 43421880 43421880 C A SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known splice_site c.64+1 e1+1 0.571 - - - no_errors PSG6 HGNC ENSG00000170848 207 0 0 208 26 11.1111 TOMM40 0 genome.wustl.edu 37 19 45406290 45406290 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 45406290 45406290 C G SNP TOMM40 ENST00000252487 human ensembl 74_37 +1 known missense c.950 p.S317C 0.993 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40 - no_errors TOMM40 HGNC ENSG00000130204 76 0 0 45 5 10 NLRP8 0 genome.wustl.edu 37 19 56466423 56466423 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 56466423 56466423 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.999 p.M333I 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP8 HGNC ENSG00000179709 211 0 0 289 66 18.5915 CAMSAP3 0 genome.wustl.edu 37 19 7677722 7677722 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 7677722 7677722 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.2424 p.P808 0.420 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 11 0 0 9 3 25 MUC16 0 genome.wustl.edu 37 19 8976844 8976844 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 19 8976844 8976844 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.42222 p.L14074 0.022 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 67 0 0 42 35 45.4545 WDR33 0 genome.wustl.edu 37 2 128476972 128476972 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 128476972 128476972 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2627 p.G876D 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 182 1 0.546448 129 16 11.0345 POTEE 0 genome.wustl.edu 37 2 132021412 132021412 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 132021412 132021412 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2384 p.R795H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 174 0 0 119 18 13.1387 SCN2A 0 genome.wustl.edu 37 2 166179794 166179794 + Silent SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 166179794 166179794 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.1800 p.T600 0.985 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 96 0 0 61 9 12.8571 XIRP2 0 genome.wustl.edu 37 2 168108240 168108240 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 168108240 168108240 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10338 p.K3446N 0.081 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 90 0 0 62 9 12.6761 OSBPL6 0 genome.wustl.edu 37 2 179247957 179247957 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 179247957 179247957 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1840 p.E614K 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 93 0 0 44 6 12 TTN 0 genome.wustl.edu 37 2 179534986 179534986 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 179534986 179534986 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.31442 p.K10481T 0.998 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 23 0 0 15 3 16.6667 TTN 0 genome.wustl.edu 37 2 179644744 179644744 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 179644744 179644744 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3712 p.T1238P 1.000 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 177 0 0 129 18 12.2449 ASIC4 0 genome.wustl.edu 37 2 220379473 220379473 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 220379473 220379473 C T SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known silent c.408 p.I136 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 115 0 0 77 8 9.41176 COL6A3 0 genome.wustl.edu 37 2 238274401 238274401 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 238274401 238274401 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.5778 p.T1926 0.012 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 131 0 0 101 10 9.00901 KIF1A 0 genome.wustl.edu 37 2 241666280 241666280 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 241666280 241666280 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.4085 p.R1362Q 0.998 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 27 0 0 29 5 14.7059 AGBL5 0 genome.wustl.edu 37 2 27293108 27293108 + Missense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 27293108 27293108 C A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.2638 p.L880M 0.993 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 221 0 0 105 31 22.7941 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48809617 48809617 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 48809617 48809617 T G SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1845 p.I615M 0.993 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 135 0 0 62 15 19.4805 LHCGR 0 genome.wustl.edu 37 2 48925793 48925793 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 48925793 48925793 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.827 p.P276L 1.000 NULL pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 155 0 0 115 15 11.5385 CNNM4 0 genome.wustl.edu 37 2 97427431 97427431 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 2 97427431 97427431 T G SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.695 p.I232S 1.000 pfam_DUF21 pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 130 0 0 77 9 10.4651 KIF16B 0 genome.wustl.edu 37 20 16348116 16348116 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 20 16348116 16348116 G T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.3854 p.P1285Q 0.487 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 212 0 0 172 23 11.7949 SIGLEC1 0 genome.wustl.edu 37 20 3683946 3683946 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 20 3683946 3683946 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.1126 p.R376W 0.010 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 123 0 0 107 10 8.54701 ADA 0 genome.wustl.edu 37 20 43251555 43251555 + Missense_Mutation SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 20 43251555 43251555 T A SNP ADA ENST00000372874 human ensembl 74_37 -1 known missense c.695 p.K232M 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 193 0 0 172 25 12.6904 NCOA3 0 genome.wustl.edu 37 20 46254223 46254223 + Nonsense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 20 46254223 46254223 C T SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known nonsense c.355 p.Q119* 1.000 pfam_PAS_fold,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 125 0 0 100 9 8.25688 CSNK2A1 0 genome.wustl.edu 37 20 472990 472990 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 20 472990 472990 C T SNP CSNK2A1 ENST00000217244 human ensembl 74_37 -1 known missense c.529 p.G177S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,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_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A1 HGNC ENSG00000101266 87 0 0 72 5 6.49351 ZNF831 0 genome.wustl.edu 37 20 57829420 57829420 + Missense_Mutation SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 20 57829420 57829420 A C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.4656 p.R1552S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 74 0 0 64 15 18.9873 KRTAP15-1 0 genome.wustl.edu 37 21 31812843 31812843 + Silent SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 21 31812843 31812843 T G SNP KRTAP15-1 ENST00000334067 human ensembl 74_37 +1 known silent c.198 p.T66 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 188 0 0 104 25 19.3798 CCT8L2 0 genome.wustl.edu 37 22 17072656 17072656 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 22 17072656 17072656 G T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.785 p.S262Y 0.002 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 241 0 0 152 22 12.6437 ZNF74 0 genome.wustl.edu 37 22 20759891 20759891 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 22 20759891 20759891 C T SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.568 p.R190C 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 29 0 0 17 4 19.0476 VPREB3 0 genome.wustl.edu 37 22 24095278 24095278 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 22 24095278 24095278 C T SNP VPREB3 ENST00000248948 human ensembl 74_37 -1 known missense c.157 p.G53S 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB3 HGNC ENSG00000128218 64 0 0 40 7 14.8936 NAGA 0 genome.wustl.edu 37 22 42458845 42458845 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 22 42458845 42458845 G T SNP NAGA ENST00000396398 human ensembl 74_37 -1 known missense c.943 p.R315S 0.999 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 249 0 0 137 13 8.66667 ABI3BP 0 genome.wustl.edu 37 3 100494156 100494156 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 100494156 100494156 T G SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.2224 p.T742P 0.494 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 35 0 0 33 5 13.1579 SENP7 0 genome.wustl.edu 37 3 101051685 101051685 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 101051685 101051685 T G SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.2502 p.K834N 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 138 0 0 89 16 15.2381 SENP7 0 genome.wustl.edu 37 3 101051696 101051696 + Missense_Mutation SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 101051696 101051696 T C SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.2491 p.R831G 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 131 0 0 79 10 11.236 SENP7 0 genome.wustl.edu 37 3 101062680 101062680 + Silent SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 101062680 101062680 A C SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known silent c.1956 p.S652 0.471 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 98 0 0 65 8 10.9589 ATG7 0 genome.wustl.edu 37 3 11340313 11340313 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 11340313 11340313 G T SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.144 p.K48N 1.000 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 246 0 0 165 14 7.82123 ATG7 0 genome.wustl.edu 37 3 11406135 11406135 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 11406135 11406135 G A SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.1802 p.G601D 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 275 0 0 201 14 6.51163 NR2C2 0 genome.wustl.edu 37 3 15046076 15046076 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 15046076 15046076 G T SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.85 p.A29S 0.481 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 108 0 0 48 7 12.7273 CAPN7 0 genome.wustl.edu 37 3 15292720 15292720 + Missense_Mutation SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 15292720 15292720 T A SNP CAPN7 ENST00000253693 human ensembl 74_37 +1 known missense c.2395 p.L799M 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN7 HGNC ENSG00000131375 261 0 0 162 25 13.369 EIF4G1 0 genome.wustl.edu 37 3 184045790 184045790 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 184045790 184045790 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.3974 p.G1325E 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 216 0 0 159 21 11.6667 TRIM71 0 genome.wustl.edu 37 3 32932136 32932136 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 32932136 32932136 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.1440 p.S480 0.983 pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 116 0 0 89 9 9.18367 GOLGA4 0 genome.wustl.edu 37 3 37366613 37366613 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 37366613 37366613 A G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.3236 p.K1079R 0.872 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 40 0 0 56 9 13.8462 XCR1 0 genome.wustl.edu 37 3 46063301 46063301 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 46063301 46063301 C G SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.139 p.V47L 0.361 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 127 0 0 103 10 8.84956 CAMK1 0 genome.wustl.edu 37 3 9804849 9804849 + Silent SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 3 9804849 9804849 C A SNP CAMK1 ENST00000256460 human ensembl 74_37 -1 known silent c.264 p.G88 0.956 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 CAMK1 HGNC ENSG00000134072 94 0 0 66 9 12 LEF1 0 genome.wustl.edu 37 4 109088797 109088797 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 109088797 109088797 G A SNP LEF1 ENST00000265165 human ensembl 74_37 -1 known missense c.127 p.H43Y 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors LEF1 HGNC ENSG00000138795 220 0 0 118 36 23.3766 DCHS2 0 genome.wustl.edu 37 4 155156977 155156977 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 155156977 155156977 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.7462 p.L2488I 0.109 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 227 0 0 131 35 21.0843 ANXA10 0 genome.wustl.edu 37 4 169108527 169108527 + Nonsense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 169108527 169108527 C A SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known nonsense c.917 p.S306* 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 112 0 0 72 8 10 PDS5A 0 genome.wustl.edu 37 4 39921961 39921961 + Missense_Mutation SNP G G C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 39921961 39921961 G C SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.713 p.T238S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 118 0 0 62 15 19.4805 GABRA4 0 genome.wustl.edu 37 4 46979471 46979471 + Silent SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 46979471 46979471 C T SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.450 p.K150 0.997 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 94 0 0 78 8 9.30233 JAKMIP1 0 genome.wustl.edu 37 4 6043885 6043885 + Splice_Site SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 6043885 6043885 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known splice_site c.2097+1 e16+1 1.000 - - - no_errors JAKMIP1 HGNC ENSG00000152969 72 0 0 53 17 24.2857 TMPRSS11F 0 genome.wustl.edu 37 4 68919748 68919748 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 4 68919748 68919748 T G SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.1196 p.D399A 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 224 0 0 119 22 15.6028 ATP10B 0 genome.wustl.edu 37 5 160033905 160033905 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 160033905 160033905 T C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known silent c.3027 p.G1009 0.886 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 226 0 0 132 9 6.38298 NSD1 0 genome.wustl.edu 37 5 176721760 176721760 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 176721760 176721760 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.7391 p.R2464H 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 103 0 0 63 11 14.8649 DDX41 0 genome.wustl.edu 37 5 176941765 176941765 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 176941765 176941765 A G SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.872 p.L291P 0.975 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 271 0 0 122 29 19.2053 PRDM9 0 genome.wustl.edu 37 5 23509147 23509147 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 23509147 23509147 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.5 p.S2N 0.014 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 65 0 0 56 21 27.2727 ADAMTS12 0 genome.wustl.edu 37 5 33637846 33637846 + Missense_Mutation SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 33637846 33637846 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1724 p.K575R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 92 0 0 66 27 29.0323 CAPSL 0 genome.wustl.edu 37 5 35921154 35921154 + Silent SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 35921154 35921154 G A SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known silent c.69 p.T23 0.010 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 76 0 0 92 7 7.07071 MSH3 0 genome.wustl.edu 37 5 80083395 80083395 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 80083395 80083395 A G SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.2447 p.E816G 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 295 1 0.337838 167 27 13.9175 RASGRF2 0 genome.wustl.edu 37 5 80409671 80409671 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 80409671 80409671 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2402 p.T801M 0.005 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 130 0 0 72 12 14.2857 LNPEP 0 genome.wustl.edu 37 5 96332176 96332176 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 96332176 96332176 C G SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.1490 p.S497C 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 79 0 0 63 8 11.2676 CHD1 0 genome.wustl.edu 37 5 98236677 98236677 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 5 98236677 98236677 G A SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.697 p.R233C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 218 0 0 143 16 10.0629 REV3L 0 genome.wustl.edu 37 6 111680134 111680134 + Missense_Mutation SNP G G C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 6 111680134 111680134 G C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.6963 p.I2321M 0.985 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 207 0 0 96 10 9.43396 IL22RA2 0 genome.wustl.edu 37 6 137476153 137476153 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 6 137476153 137476153 C T SNP IL22RA2 ENST00000296980 human ensembl 74_37 -1 known missense c.397 p.G133R 0.984 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 302 0 0 208 24 10.3448 SYNE1 0 genome.wustl.edu 37 6 152777106 152777106 + Missense_Mutation SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 6 152777106 152777106 T A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2642 p.K881M 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 218 0 0 158 38 19.3878 TNXB 0 genome.wustl.edu 37 6 32026099 32026099 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 6 32026099 32026099 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.7561 p.E2521K 0.000 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 33 0 0 23 10 30.303 TMEM63B 0 genome.wustl.edu 37 6 44116537 44116537 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 6 44116537 44116537 T G SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.1268 p.L423R 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 126 0 0 93 8 7.92079 GIGYF1 0 genome.wustl.edu 37 7 100285026 100285026 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 100285026 100285026 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.377 p.R126H 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 205 0 0 158 20 11.236 MUC17 0 genome.wustl.edu 37 7 100684635 100684635 + Missense_Mutation SNP C C A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 100684635 100684635 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9938 p.T3313N 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 539 0 0 367 50 11.9904 FERD3L 0 genome.wustl.edu 37 7 19184940 19184940 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 19184940 19184940 A G SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.46 p.F16L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 89 0 0 51 7 12.069 C7orf25 0 genome.wustl.edu 37 7 42949301 42949301 + Missense_Mutation SNP A A T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 42949301 42949301 A T SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known missense c.1373 p.L458H 1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 188 0 0 121 15 11.0294 ZNF733P 0 genome.wustl.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 62752443 62752443 G C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 45 0 0 39 4 9.30233 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658360 72658360 + RNA SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 72658360 72658360 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.954 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 125 0 0 67 14 17.284 SEMA3E 0 genome.wustl.edu 37 7 83035322 83035322 + Missense_Mutation SNP T T A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 7 83035322 83035322 T A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.867 p.K289N 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 208 0 0 145 12 7.64331 ANGPT1 0 genome.wustl.edu 37 8 108334272 108334272 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 108334272 108334272 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.660 p.Q220 0.971 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 181 0 0 127 39 23.494 PLEC 0 genome.wustl.edu 37 8 144995359 144995359 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 144995359 144995359 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.9041 p.T3014M 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 103 0 0 108 10 8.47458 SH2D4A 0 genome.wustl.edu 37 8 19192368 19192368 + Silent SNP A A C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 19192368 19192368 A C SNP SH2D4A ENST00000265807 human ensembl 74_37 +1 known silent c.513 p.R171 0.002 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D4A HGNC ENSG00000104611 74 0 0 70 8 10.2564 ADAM7 0 genome.wustl.edu 37 8 24358384 24358384 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 24358384 24358384 G T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.2084 p.C695F 0.123 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 281 0 0 224 20 8.19672 CSMD1 0 genome.wustl.edu 37 8 3256965 3256965 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 3256965 3256965 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2356 p.E786K 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 CSMD1 HGNC ENSG00000183117 132 0 0 122 8 6.15385 CYP7A1 0 genome.wustl.edu 37 8 59407090 59407090 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 59407090 59407090 T C SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known silent c.1014 p.A338 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 170 0 0 114 32 21.9178 CYP7B1 0 genome.wustl.edu 37 8 65509449 65509449 + Missense_Mutation SNP T T G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 8 65509449 65509449 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.1271 p.K424T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 111 0 0 96 8 7.69231 ABCA1 0 genome.wustl.edu 37 9 107568522 107568522 + Silent SNP T T C TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 107568522 107568522 T C SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.4464 p.Q1488 0.975 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 163 0 0 99 8 7.47664 ASTN2 0 genome.wustl.edu 37 9 119488112 119488112 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 119488112 119488112 G T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2744 p.T915N 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 234 0 0 149 42 21.9895 BRINP1 0 genome.wustl.edu 37 9 122011331 122011331 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 122011331 122011331 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.316 p.R106C 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 99 0 0 76 5 6.17284 WDR38 0 genome.wustl.edu 37 9 127619662 127619662 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 127619662 127619662 A G SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known missense c.788 p.N263S 0.827 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 130 0 0 88 14 13.7255 RUSC2 0 genome.wustl.edu 37 9 35546783 35546783 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 35546783 35546783 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.265 p.R89W 0.994 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 134 0 0 124 9 6.76692 VPS13A 0 genome.wustl.edu 37 9 79952416 79952416 + Missense_Mutation SNP G G A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 79952416 79952416 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6341 p.R2114Q 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 208 0 0 119 14 10.5263 NTRK2 0 genome.wustl.edu 37 9 87482253 87482253 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 9 87482253 87482253 C T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1540 p.P514S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 236 0 0 131 30 18.6335 IL13RA2 0 genome.wustl.edu 37 X 114239848 114239848 + Missense_Mutation SNP C C T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 X 114239848 114239848 C T SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.1028 p.R343H 0.001 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 106 0 0 49 16 24.6154 TFDP3 0 genome.wustl.edu 37 X 132351941 132351941 + Missense_Mutation SNP A A G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 X 132351941 132351941 A G SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known missense c.347 p.M116T 1.000 pfam_E2F_TDP,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 89 0 0 77 18 18.9474 UBE2NL 0 genome.wustl.edu 37 X 142967341 142967341 + Missense_Mutation SNP C C G TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 X 142967341 142967341 C G SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.139 p.P47A 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 154 0 0 104 25 19.3798 RPS6KA6 0 genome.wustl.edu 37 X 83357064 83357064 + Missense_Mutation SNP G G T TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 X 83357064 83357064 G T SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1757 p.A586E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 56 0 0 41 7 14.5833 LIPF 0 genome.wustl.edu 37 10 90427329 90427330 + Frame_Shift_Ins INS - - A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 10 90427329 90427330 - A INS LIPF ENST00000394375 human ensembl 74_37 +1 known frame_shift_ins c.139_140 p.M48fs 0.993:1.000 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 157 0 0 115 15 11.5385 PKP3 0 genome.wustl.edu 37 11 404061 404061 + Frame_Shift_Del DEL C C - TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 11 404061 404061 C - DEL PKP3 ENST00000331563 human ensembl 74_37 +1 known frame_shift_del c.2196 p.I734fs 0.582 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 178 0 0 114 12 9.52381 RYR3 0 genome.wustl.edu 37 15 33954944 33954945 + In_Frame_Ins INS - - TGA TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 15 33954944 33954945 - TGA INS RYR3 ENST00000389232 human ensembl 74_37 +1 known in_frame_ins c.5213_5214 p.1742in_frame_insD 0.996:0.941 NULL 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 170 0 0 97 9 8.49057 ABCA5 0 genome.wustl.edu 37 17 67260956 67260957 + Frame_Shift_Ins INS - - A TCGA-D7-5579-01A-01D-1600-08 TCGA-D7-5579-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3db3b7b1-da1d-4b9c-a92a-c60fecf4328c 865f246b-0e3f-46b7-8112-6c1475198b42 17 67260956 67260957 - A INS ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_ins c.3238_3237 p.I1079fs 0.108:0.503 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 115 0 0 70 27 27.8351