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 101928749 0 genome.wustl.edu 37 11 76092935 76092935 + Silent SNP T T A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 76092935 76092935 T A SNP 101928749 ENST00000529331 human ensembl 74_37 +1 putative silent c.63 p.S21 1.000 NULL superfamily_Homeodomain-like - no_errors RP11-111M22.2 Clone_based_vega_gene ENSG00000179240 88 0 0.00 35 19 35.19 ABCA6 0 genome.wustl.edu 37 17 67125841 67125841 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 67125841 67125841 G T SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.843 p.F281L 0.114 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 44 0 0.00 14 8 36.36 ABHD17C 0 genome.wustl.edu 37 15 81041946 81041946 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 81041946 81041946 C A SNP ABHD17C ENST00000258884 human ensembl 74_37 +1 known missense c.683 p.A228E 0.997 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors ABHD17C HGNC ENSG00000136379 108 0 0.00 25 24 48.98 ACPP 0 genome.wustl.edu 37 3 132071589 132071589 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 132071589 132071589 A G SNP ACPP ENST00000351273 human ensembl 74_37 +1 known missense c.890 p.Q297R 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 55 0 0.00 12 14 53.85 AGAP1 0 genome.wustl.edu 37 2 236706458 236706458 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 236706458 236706458 C T SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known silent c.729 p.C243 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 60 0 0.00 47 4 7.84 AHNAK 0 genome.wustl.edu 37 11 62295472 62295472 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 62295472 62295472 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.6417 p.L2139 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 126 0 0.00 59 4 6.35 AJAP1 0 genome.wustl.edu 37 1 4832549 4832549 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 4832549 4832549 C T SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.1127 p.T376M 0.876 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 30 0 0.00 35 4 10.26 ALG14 0 genome.wustl.edu 37 1 95538354 95538354 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 95538354 95538354 C T SNP ALG14 ENST00000370205 human ensembl 74_37 -1 known missense c.101 p.R34Q 0.005 NULL pfam_Oligosacch_biosynth_Alg14 - no_errors ALG14 HGNC ENSG00000172339 106 0 0.00 33 19 36.54 ANK3 0 genome.wustl.edu 37 10 61831657 61831657 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 10 61831657 61831657 C A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8982 p.L2994F 0.040 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 32 0 0.00 6 9 60.00 ANLN 0 genome.wustl.edu 37 7 36460273 36460273 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 36460273 36460273 C T SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.2083 p.R695W 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 44 0 0.00 33 24 42.11 AP3B2 0 genome.wustl.edu 37 15 83331462 83331462 + Silent SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 83331462 83331462 T C SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.2760 p.Q920 0.991 superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 65 0 0.00 18 8 30.77 APOB 0 genome.wustl.edu 37 2 21252655 21252655 + Silent SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 21252655 21252655 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.1473 p.V491 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 65 0 0.00 32 10 23.81 ASTN2 0 genome.wustl.edu 37 9 119567995 119567995 + Missense_Mutation SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 119567995 119567995 T C SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2312 p.D771G 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 101 0 0.00 41 10 19.61 ASXL1 0 genome.wustl.edu 37 20 31024338 31024338 + Missense_Mutation SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 31024338 31024338 T C SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.3823 p.S1275P 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 33 0 0.00 21 7 25.00 ATP8B4 0 genome.wustl.edu 37 15 50264787 50264787 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 50264787 50264787 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1235 p.R412K 0.112 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B4 HGNC ENSG00000104043 68 0 0.00 20 9 31.03 AXDND1 0 genome.wustl.edu 37 1 179504087 179504087 + Silent SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 179504087 179504087 T C SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known silent c.3021 p.S1007 0.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 52 0 0.00 15 12 44.44 B3GALT2 0 genome.wustl.edu 37 1 193149573 193149573 + Missense_Mutation SNP A A T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 193149573 193149573 A T SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.1120 p.C374S 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 44 0 0.00 27 2 6.90 BCHE 0 genome.wustl.edu 37 3 165547693 165547693 + Nonsense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 165547693 165547693 C A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known nonsense c.1129 p.E377* 0.588 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 60 0 0.00 24 10 29.41 BCHE 0 genome.wustl.edu 37 3 165548550 165548550 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 165548550 165548550 T G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.272 p.N91T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 73 0 0.00 25 14 35.90 BDP1 0 genome.wustl.edu 37 5 70818198 70818198 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 70818198 70818198 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.5074 p.A1692T 0.903 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 40 0 0.00 14 3 17.65 CACNA1S 0 genome.wustl.edu 37 1 201035042 201035042 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 201035042 201035042 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.2777 p.S926N 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 23 0 0.00 14 5 26.32 CAPN15 0 genome.wustl.edu 37 16 598175 598175 + Frame_Shift_Del DEL G G - TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 16 598175 598175 G 0 DEL CAPN15 ENST00000219611 human ensembl 74_37 +1 known frame_shift_del c.1337 p.A448fs 0.996 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 8 0 0.00 4 2 33.33 CARF 0 genome.wustl.edu 37 2 203818736 203818736 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 203818736 203818736 G A SNP CARF ENST00000320443 human ensembl 74_37 +1 known missense c.436 p.E146K 1.000 NULL NULL - no_errors CARF HGNC ENSG00000138380 64 0 0.00 36 9 20.00 CASC3 0 genome.wustl.edu 37 17 38318023 38318023 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 38318023 38318023 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.315 p.Y105 0.999 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 39 0 0.00 24 4 14.29 CCDC57 0 genome.wustl.edu 37 17 80156227 80156227 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 80156227 80156227 A G SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.479 p.L160P 0.595 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 33 0 0.00 18 9 33.33 CCDC88A 0 genome.wustl.edu 37 2 55562102 55562102 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 55562102 55562102 G A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.1855 p.H619Y 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 65 0 0.00 47 18 27.27 CD109 0 genome.wustl.edu 37 6 74502432 74502432 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 74502432 74502432 T G SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2785 p.F929V 1.000 pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 62 0 0.00 16 12 42.86 CDK11B 0 genome.wustl.edu 37 1 1572272 1572272 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 1572272 1572272 A G SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1796 p.L599P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 93 0 0.00 59 4 6.35 CDK14 0 genome.wustl.edu 37 7 90747400 90747400 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 90747400 90747400 C A SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1315 p.P439T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 64 0 0.00 19 17 47.22 CHD3 0 genome.wustl.edu 37 17 7797888 7797888 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 7797888 7797888 G T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.1231 p.D411Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 32 0 0.00 21 4 16.00 CHST9 0 genome.wustl.edu 37 18 24496546 24496546 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 18 24496546 24496546 A C SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.1009 p.L337V 0.996 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 29 0 0.00 12 6 33.33 CLCA2 0 genome.wustl.edu 37 1 86919122 86919122 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 86919122 86919122 C T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known silent c.2226 p.S742 0.973 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 67 0 0.00 48 4 7.69 CLEC17A 0 genome.wustl.edu 37 19 14694191 14694191 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 14694191 14694191 G T SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known missense c.66 p.E22D 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 91 0 0.00 53 3 5.36 CNGB3 0 genome.wustl.edu 37 8 87616392 87616392 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 8 87616392 87616392 T G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1710 p.Q570H 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 59 0 0.00 13 8 38.10 CPNE5 0 genome.wustl.edu 37 6 36790834 36790834 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 36790834 36790834 G A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known silent c.136 p.L46 0.988 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 72 0 0.00 37 19 33.93 CREB5 0 genome.wustl.edu 37 7 28610022 28610022 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 28610022 28610022 G T SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known missense c.331 p.G111W 0.999 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 36 0 0.00 41 4 8.89 CSDE1 0 genome.wustl.edu 37 1 115275390 115275390 + Silent SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 115275390 115275390 T C SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known silent c.930 p.K310 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 45 0 0.00 30 10 25.00 CYP2E1 0 genome.wustl.edu 37 10 135342131 135342131 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 10 135342131 135342131 G A SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known silent c.324 p.A108 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 29 0 0.00 11 3 21.43 DNAH9 0 genome.wustl.edu 37 17 11659897 11659897 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 11659897 11659897 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6751 p.A2251T 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 47 0 0.00 17 4 19.05 DNM1P47 0 genome.wustl.edu 37 15 102299973 102299973 + RNA SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 102299973 102299973 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 68 0 0.00 44 10 18.52 DOCK2 0 genome.wustl.edu 37 5 169108760 169108760 + Silent SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 169108760 169108760 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.483 p.L161 0.029 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 70 0 0.00 49 4 7.55 DUSP10 0 genome.wustl.edu 37 1 221912696 221912696 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 221912696 221912696 T G SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.391 p.S131R 0.688 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 57 0 0.00 39 17 30.36 ECT2L 0 genome.wustl.edu 37 6 139170551 139170551 + Missense_Mutation SNP G G C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 139170551 139170551 G C SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.1049 p.R350T 1.000 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 50 0 0.00 19 17 45.95 EDNRA 0 genome.wustl.edu 37 4 148453698 148453698 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 148453698 148453698 G T SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known missense c.589 p.G197W 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 56 0 0.00 7 14 66.67 EFCAB6 0 genome.wustl.edu 37 22 44083441 44083441 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 22 44083441 44083441 G T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.1052 p.T351N 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 158 0 0.00 47 30 38.96 ELP2 0 genome.wustl.edu 37 18 33750130 33750130 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 18 33750130 33750130 C T SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known silent c.2181 p.S727 0.081 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 87 0 0.00 48 4 7.69 EP300 0 genome.wustl.edu 37 22 41536233 41536233 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 22 41536233 41536233 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.1850 p.G617V 1.000 pfam_KIX_dom,superfamily_KIX_dom,pfscan_KIX_dom pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 117 0 0.00 76 4 5.00 ERBB4 0 genome.wustl.edu 37 2 212812223 212812223 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 212812223 212812223 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.353 p.A118E 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 79 0 0.00 33 12 26.67 FAM71A 0 genome.wustl.edu 37 1 212798688 212798688 + Missense_Mutation SNP C C G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 212798688 212798688 C G SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.469 p.L157V 0.004 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 25 0 0.00 12 8 40.00 FASLG 0 genome.wustl.edu 37 1 172634916 172634916 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 172634916 172634916 C T SNP FASLG ENST00000367721 human ensembl 74_37 +1 known silent c.606 p.C202 0.243 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 39 0 0.00 22 18 45.00 FBXL13 0 genome.wustl.edu 37 7 102523840 102523840 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 102523840 102523840 C T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.1300 p.A434T 0.511 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 27 0 0.00 15 3 16.67 FBXW7 0 genome.wustl.edu 37 4 153247195 153247195 + Missense_Mutation SNP G G C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 153247195 153247195 G C SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1607 p.T536R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 71 0 0.00 22 17 43.59 FCGBP 0 genome.wustl.edu 37 19 40364190 40364191 + Frame_Shift_Del DEL CA CA - TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 40364190 40364191 CA 0 DEL FCGBP ENST00000221347 human ensembl 74_37 -1 known frame_shift_del c.14452_14451 p.C4817fs 0.997:0.999 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 66 0 0.00 35 9 20.45 FCGBP 0 genome.wustl.edu 37 19 40421095 40421095 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 40421095 40421095 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.2826 p.V942 0.245 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 49 0 0.00 17 17 50.00 FCRL1 0 genome.wustl.edu 37 1 157771260 157771260 + Silent SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 157771260 157771260 T G SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known silent c.994 p.R332 0.970 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 46 0 0.00 30 18 37.50 FHOD3 0 genome.wustl.edu 37 18 34192047 34192047 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 18 34192047 34192047 A C SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.946 p.N316H 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 59 0 0.00 21 13 38.24 FLJ36000 0 genome.wustl.edu 37 17 21911820 21911820 + RNA SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 21911820 21911820 C A SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 46 0 0.00 12 8 40.00 FLNC 0 genome.wustl.edu 37 7 128492798 128492798 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 128492798 128492798 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.5996 p.R1999Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 66 0 0.00 35 2 5.41 FLRT2 0 genome.wustl.edu 37 14 86089197 86089197 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 14 86089197 86089197 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1339 p.V447M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 36 0 0.00 9 9 50.00 GCNT1 0 genome.wustl.edu 37 9 79118499 79118499 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 79118499 79118499 A C SNP GCNT1 ENST00000376730 human ensembl 74_37 +1 known missense c.1202 p.K401T 1.000 NULL pfam_Glyco_trans_14 - no_errors GCNT1 HGNC ENSG00000187210 16 0 0.00 13 9 39.13 GK2 0 genome.wustl.edu 37 4 80329320 80329320 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 80329320 80329320 A G SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.35 p.L12S 1.000 tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 49 0 0.00 6 18 75.00 GNAS 0 genome.wustl.edu 37 20 57430677 57430677 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 57430677 57430677 A C SNP GNAS ENST00000371099 human ensembl 74_37 +1 putative missense c.2137 p.S713R 0.935 NULL NULL - no_errors GNAS HGNC ENSG00000087460 47 0 0.00 26 14 35.00 GPRIN1 0 genome.wustl.edu 37 5 176026122 176026134 + Frame_Shift_Del DEL CAAAGACCCAGGA CAAAGACCCAGGA - TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 CAAAGACCCAGGA CAAAGACCCAGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 176026122 176026134 CAAAGACCCAGGA 0 DEL GPRIN1 ENST00000303991 human ensembl 74_37 -1 known frame_shift_del c.714_702 p.D234fs 0.000:0.000:0.000:0.001:0.004:0.001:0.000:0.000:0.101:0.106:0.114:0.091:0.008 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 23 0 0.00 15 7 31.82 GPRIN1 0 genome.wustl.edu 37 5 176026136 176026146 + Frame_Shift_Del DEL CCTCCTTCCTC CCTCCTTCCTC - TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 CCTCCTTCCTC CCTCCTTCCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 176026136 176026146 CCTCCTTCCTC 0 DEL GPRIN1 ENST00000303991 human ensembl 74_37 -1 known frame_shift_del c.700_690 p.R231fs 0.001:0.001:0.018:0.050:0.065:0.536:0.053:0.031:0.027:0.000:0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 23 0 0.00 13 7 35.00 GRIK2 0 genome.wustl.edu 37 6 102513685 102513685 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 102513685 102513685 A C SNP GRIK2 ENST00000369138 human ensembl 74_37 +1 known missense c.2576 p.K859T 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 53 0 0.00 26 11 29.73 GRIN2A 0 genome.wustl.edu 37 16 9923493 9923493 + Silent SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 16 9923493 9923493 A C SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.1794 p.S598 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 54 0 0.00 13 19 59.38 HAVCR1 0 genome.wustl.edu 37 5 156476082 156476082 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 156476082 156476082 G A SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.748 p.P250S 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 87 0 0.00 40 3 6.98 HMCN1 0 genome.wustl.edu 37 1 186034411 186034411 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 186034411 186034411 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.7555 p.P2519S 0.953 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 49 0 0.00 24 17 41.46 HYDIN 0 genome.wustl.edu 37 16 70917868 70917868 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 16 70917868 70917868 G T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.9934 p.P3312T 0.944 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 35 0 0.00 14 11 44.00 IFITM2 0 genome.wustl.edu 37 11 308207 308207 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 308207 308207 G A SNP IFITM2 ENST00000399817 human ensembl 74_37 +1 known silent c.15 p.V5 0.000 NULL pfam_CD225/Dispanin_fam - no_errors IFITM2 HGNC ENSG00000185201 44 0 0.00 21 2 8.70 IGSF10 0 genome.wustl.edu 37 3 151156006 151156006 + Missense_Mutation SNP C C G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 151156006 151156006 C G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.6343 p.G2115R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 63 0 0.00 15 12 44.44 IL1RAPL2 0 genome.wustl.edu 37 X 105011435 105011435 + Silent SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d X 105011435 105011435 C A SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known silent c.1842 p.I614 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 19 0 0.00 3 8 72.73 IRX1 0 genome.wustl.edu 37 5 3599410 3599410 + Silent SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 3599410 3599410 T G SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.348 p.A116 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 30 0 0.00 18 8 30.77 KANK4 0 genome.wustl.edu 37 1 62740610 62740610 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 62740610 62740610 G T SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.166 p.P56T 0.964 pfam_KN_motif pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 54 0 0.00 12 8 40.00 KANK4 0 genome.wustl.edu 37 1 62740611 62740611 + Silent SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 62740611 62740611 A G SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known silent c.165 p.I55 0.972 pfam_KN_motif pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 54 0 0.00 13 8 38.10 KCND1 0 genome.wustl.edu 37 X 48826500 48826500 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d X 48826500 48826500 C T SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.179 p.R60H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 17 0 0.00 22 4 15.38 KCNN3 0 genome.wustl.edu 37 1 154705591 154705591 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 154705591 154705591 T G SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.1478 p.N493T 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 53 0 0.00 24 4 14.29 KIAA1199 0 genome.wustl.edu 37 15 81221382 81221382 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 81221382 81221382 G T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.2479 p.D827Y 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 63 0 0.00 46 3 6.12 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 88595 88595 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d GL000209.1 88595 88595 G T SNP KIR2DL2 ENST00000391731 human ensembl 74_37 +1 known missense c.355 p.G119C NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 46 0 0.00 33 18 35.29 KLK2 0 genome.wustl.edu 37 19 51381679 51381679 + Missense_Mutation SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 51381679 51381679 T C SNP KLK2 ENST00000325321 human ensembl 74_37 +1 known missense c.650 p.L217P 0.802 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK2 HGNC ENSG00000167751 111 0 0.00 67 43 39.09 KRT20 0 genome.wustl.edu 37 17 39036389 39036389 + Missense_Mutation SNP T T A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 39036389 39036389 T A SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known missense c.755 p.K252M 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 37 0 0.00 14 17 54.84 KRT23 0 genome.wustl.edu 37 17 39086215 39086215 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 39086215 39086215 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.613 p.L205F 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 55 0 0.00 35 2 5.41 KRT72 0 genome.wustl.edu 37 12 52984624 52984624 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 12 52984624 52984624 T G SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1085 p.K362T 0.998 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 35 0 0.00 8 12 60.00 KRT9 0 genome.wustl.edu 37 17 39724612 39724612 + Missense_Mutation SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 39724612 39724612 T C SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known missense c.1196 p.E399G 0.842 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 67 0 0.00 47 4 7.84 LAMA4 0 genome.wustl.edu 37 6 112457365 112457365 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 112457365 112457365 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.3374 p.T1125M 0.986 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 53 0 0.00 25 2 7.41 LIMD2 0 genome.wustl.edu 37 17 61776262 61776262 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 61776262 61776262 C T SNP LIMD2 ENST00000259006 human ensembl 74_37 -1 known missense c.121 p.A41T 0.004 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD2 HGNC ENSG00000136490 9 0 0.00 3 3 50.00 LRRIQ3 0 genome.wustl.edu 37 1 74575235 74575235 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 74575235 74575235 G A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.710 p.P237L 0.000 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 103 0 0.00 53 4 7.02 LTBP1 0 genome.wustl.edu 37 2 33482362 33482362 + Nonsense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 33482362 33482362 G T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known nonsense c.2179 p.E727* 1.000 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 86 0 0.00 75 5 6.25 MAGEL2 0 genome.wustl.edu 37 15 23890550 23890550 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 23890550 23890550 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.531 p.P177 0.018 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 38 0 0.00 13 10 43.48 MAPK10 0 genome.wustl.edu 37 4 86938393 86938393 + Silent SNP A A T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 86938393 86938393 A T SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known silent c.1383 p.G461 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 62 0 0.00 17 10 37.04 MAPT 0 genome.wustl.edu 37 17 44060543 44060543 + Splice_Site SNP G G C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 44060543 44060543 G C SNP MAPT ENST00000344290 human ensembl 74_37 +1 known splice_site c.374-1 e5-1 0.001 - - - no_errors MAPT HGNC ENSG00000186868 47 0 0.00 10 5 33.33 MEIS1 0 genome.wustl.edu 37 2 66775136 66775136 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 66775136 66775136 T G SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.950 p.L317R 1.000 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 83 0 0.00 60 16 21.05 MOG 0 genome.wustl.edu 37 6 29638637 29638637 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 29638637 29638637 A C SNP MOG ENST00000376894 human ensembl 74_37 +1 putative missense c.869 p.K290T 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MOG HGNC ENSG00000204655 12 0 0.00 12 8 40.00 MOXD2P 0 genome.wustl.edu 37 7 141942718 141942718 + RNA SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 141942718 141942718 C T SNP MOXD2P ENST00000477615 human ensembl 74_37 -1 known rna NULL NULL 0.284 - - - no_errors MOXD2P HGNC ENSG00000240268 43 0 0.00 10 3 23.08 MSTN 0 genome.wustl.edu 37 2 190924966 190924966 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 190924966 190924966 C T SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.569 p.R190Q 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 62 0 0.00 32 2 5.88 NCAPG 0 genome.wustl.edu 37 4 17839316 17839316 + Silent SNP A A T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 17839316 17839316 A T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known silent c.2358 p.A786 0.918 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 53 0 0.00 7 7 50.00 NCAPG 0 genome.wustl.edu 37 4 17839318 17839318 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 17839318 17839318 C T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2360 p.S787F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 54 0 0.00 7 7 50.00 NEURL4 0 genome.wustl.edu 37 17 7224748 7224748 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 7224748 7224748 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.3130 p.A1044T 0.993 pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 23 0 0.00 20 4 16.67 NF1 0 genome.wustl.edu 37 17 29559830 29559830 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 29559830 29559830 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.3427 p.H1143Y 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 52 0 0.00 31 13 29.55 NOD2 0 genome.wustl.edu 37 16 50733865 50733865 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 16 50733865 50733865 G A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known silent c.540 p.R180 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 38 0 0.00 11 10 47.62 NOL8 0 genome.wustl.edu 37 9 95076606 95076606 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 95076606 95076606 C T SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known silent c.2301 p.A767 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 27 0 0.00 21 6 22.22 NOTCH4 0 genome.wustl.edu 37 6 32168965 32168965 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 32168965 32168965 G T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4068 p.D1356E 0.000 pirsf_Notch,prints_Notch_4 pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 44 0 0.00 26 11 29.73 NR1D1 0 genome.wustl.edu 37 17 38251254 38251254 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 38251254 38251254 G A SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known silent c.1368 p.H456 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 69 0 0.00 26 6 18.75 NRG3 0 genome.wustl.edu 37 10 84745257 84745257 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 10 84745257 84745257 G A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.2059 p.E687K 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 65 0 0.00 14 10 41.67 OPRL1 0 genome.wustl.edu 37 20 62729634 62729634 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 62729634 62729634 G A SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.595 p.E199K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 35 0 0.00 55 5 8.33 OR10G9 0 genome.wustl.edu 37 11 123894134 123894134 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 123894134 123894134 A G SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.415 p.R139G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 59 0 0.00 31 12 27.91 OR1J4 0 genome.wustl.edu 37 9 125281615 125281615 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 125281615 125281615 T G SNP OR1J4 ENST00000340750 human ensembl 74_37 +1 known missense c.196 p.L66V 0.999 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 OR1J4 HGNC ENSG00000239590 88 0 0.00 64 22 25.58 OR1L4 0 genome.wustl.edu 37 9 125486972 125486972 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 125486972 125486972 A C SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.704 p.K235T 0.743 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 OR1L4 HGNC ENSG00000136939 140 0 0.00 79 16 16.84 OR56B1 0 genome.wustl.edu 37 11 5758407 5758407 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 5758407 5758407 A C SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.661 p.S221R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 36 0 0.00 13 12 48.00 OR5M11 0 genome.wustl.edu 37 11 56310161 56310161 + Silent SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 56310161 56310161 A C SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known silent c.573 p.T191 0.511 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 25 0 0.00 8 7 46.67 PCDHA7 0 genome.wustl.edu 37 5 140214096 140214096 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 140214096 140214096 A C SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.128 p.N43T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 112 0 0.00 56 14 19.72 PCDHB12 0 genome.wustl.edu 37 5 140590121 140590121 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 140590121 140590121 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1642 p.R548C 0.752 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 163 0 0.00 62 42 40.38 PDIA6 0 genome.wustl.edu 37 2 10930911 10930911 + Silent SNP C C G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 10930911 10930911 C G SNP PDIA6 ENST00000381611 human ensembl 74_37 -1 known silent c.648 p.T216 0.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 23 0 0.00 15 5 25.00 PHF7 0 genome.wustl.edu 37 3 52456288 52456288 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 52456288 52456288 G A SNP PHF7 ENST00000327906 human ensembl 74_37 +1 known missense c.731 p.R244H 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING - no_errors PHF7 HGNC ENSG00000010318 45 0 0.00 21 11 34.38 PITX2 0 genome.wustl.edu 37 4 111543490 111543490 + Nonsense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 111543490 111543490 G A SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known nonsense c.127 p.Q43* 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 89 0 0.00 25 16 39.02 PLA2G10 0 genome.wustl.edu 37 16 14766487 14766487 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 16 14766487 14766487 G A SNP PLA2G10 ENST00000438167 human ensembl 74_37 -1 known missense c.475 p.P159S 0.000 superfamily_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G10 HGNC ENSG00000069764 123 0 0.00 66 4 5.71 PLIN4 0 genome.wustl.edu 37 19 4511250 4511250 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 4511250 4511250 A C SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2680 p.L894V 0.009 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 96 0 0.00 41 5 10.87 PLIN4 0 genome.wustl.edu 37 19 4511646 4511646 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 4511646 4511646 A C SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2284 p.L762V 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 105 0 0.00 74 29 28.16 PLSCR5 0 genome.wustl.edu 37 3 146309619 146309619 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 146309619 146309619 T G SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known missense c.503 p.K168T 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 146 0 0.00 26 27 50.94 PNPO 0 genome.wustl.edu 37 17 46024062 46024062 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 46024062 46024062 C T SNP PNPO ENST00000225573 human ensembl 74_37 +1 known missense c.700 p.R234W 0.016 pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 74 0 0.00 27 2 6.90 PPAP2A 0 genome.wustl.edu 37 5 54721117 54721117 + Nonsense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 54721117 54721117 C A SNP PPAP2A ENST00000264775 human ensembl 74_37 -1 known nonsense c.775 p.E259* 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2A HGNC ENSG00000067113 55 0 0.00 19 2 9.52 PPFIA3 0 genome.wustl.edu 37 19 49637913 49637913 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 49637913 49637913 G T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.1395 p.E465D 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 55 0 0.00 34 2 5.56 PPP1R16B 0 genome.wustl.edu 37 20 37546851 37546851 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 37546851 37546851 C A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.1246 p.P416T 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 41 0 0.00 26 15 36.59 PRAMEF22 0 genome.wustl.edu 37 1 13036521 13036521 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 13036521 13036521 G T SNP PRAMEF22 ENST00000376187 human ensembl 74_37 +1 known missense c.593 p.R198I 0.000 NULL NULL - no_errors PRAMEF22 HGNC ENSG00000204508 143 0 0.00 99 14 12.39 PRPF40B 0 genome.wustl.edu 37 12 50037935 50037935 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 12 50037935 50037935 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.2639 p.R880Q 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 14 0 0.00 3 3 50.00 PTGES2 0 genome.wustl.edu 37 9 130885294 130885294 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 130885294 130885294 T G SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known missense c.806 p.K269T 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 46 0 0.00 25 18 41.86 PTPRG 0 genome.wustl.edu 37 3 62188912 62188912 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 62188912 62188912 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known silent c.1443 p.T481 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 32 0 0.00 15 7 31.82 PTPRU 0 genome.wustl.edu 37 1 29611333 29611333 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 29611333 29611333 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.2270 p.A757V 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 68 0 0.00 41 4 8.89 PYHIN1 0 genome.wustl.edu 37 1 158906935 158906935 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 158906935 158906935 G T SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.235 p.A79S 0.002 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 50 0 0.00 22 7 24.14 RAB27A 0 genome.wustl.edu 37 15 55497769 55497769 + Nonsense_Mutation SNP G G C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 55497769 55497769 G C SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known nonsense c.602 p.S201* 0.913 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 67 0 0.00 21 21 50.00 RANGAP1 0 genome.wustl.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 22 41650402 41650402 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1170 p.E390 0.781 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 44 0 0.00 26 2 7.14 RBBP8NL 0 genome.wustl.edu 37 20 60990853 60990853 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 60990853 60990853 G A SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known missense c.535 p.R179W 0.000 NULL pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 21 0 0.00 25 2 7.41 RBM12B 0 genome.wustl.edu 37 8 94745658 94745658 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 8 94745658 94745658 C A SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.2981 p.R994L 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 69 0 0.00 27 2 6.90 RELN 0 genome.wustl.edu 37 7 103180780 103180780 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 103180780 103180780 A G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6794 p.L2265P 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 49 0 0.00 8 3 27.27 RYR2 0 genome.wustl.edu 37 1 237936826 237936826 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 237936826 237936826 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11671 p.I3891V 0.995 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 93 0 0.00 48 14 22.58 SCN8A 0 genome.wustl.edu 37 12 52200089 52200089 + Nonsense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 12 52200089 52200089 G T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known nonsense c.4819 p.E1607* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 48 0 0.00 37 2 5.13 SEC16A 0 genome.wustl.edu 37 9 139351997 139351997 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 139351997 139351997 C A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.5449 p.G1817W 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 52 0 0.00 39 4 9.30 SELV 0 genome.wustl.edu 37 19 40006070 40006070 + Missense_Mutation SNP T T A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 40006070 40006070 T A SNP SELV ENST00000423711 human ensembl 74_37 +1 known missense c.218 p.V73D 0.018 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_gn ENSG00000186838 25 0 0.00 16 6 27.27 SHANK2 0 genome.wustl.edu 37 11 70333283 70333283 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 11 70333283 70333283 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3118 p.P1040S 1.000 NULL 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 42 0 0.00 27 3 10.00 SLC16A9 0 genome.wustl.edu 37 10 61412546 61412546 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 10 61412546 61412546 A C SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known missense c.1514 p.V505G 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 104 0 0.00 25 17 40.48 SLC17A5 0 genome.wustl.edu 37 6 74304823 74304823 + Missense_Mutation SNP C C G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 74304823 74304823 C G SNP SLC17A5 ENST00000355773 human ensembl 74_37 -1 known missense c.1465 p.D489H 0.085 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 123 0 0.00 64 38 37.25 SLC26A3 0 genome.wustl.edu 37 7 107418651 107418651 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 107418651 107418651 G T SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known missense c.1483 p.Q495K 0.993 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 34 0 0.00 21 2 8.70 SLC26A3 0 genome.wustl.edu 37 7 107423293 107423293 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 7 107423293 107423293 G A SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known silent c.1260 p.I420 0.005 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 49 0 0.00 26 2 7.14 SNAP91 0 genome.wustl.edu 37 6 84292073 84292073 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 84292073 84292073 A C SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.2017 p.F673V 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 28 0 0.00 22 7 24.14 SNHG14 0 genome.wustl.edu 37 15 25486732 25486732 + RNA SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 15 25486732 25486732 T C SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 19 0 0.00 2 6 75.00 SPATA31E1 0 genome.wustl.edu 37 9 90502633 90502633 + Silent SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 9 90502633 90502633 A C SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known silent c.3231 p.S1077 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 33 0 0.00 26 6 18.75 SPDL1 0 genome.wustl.edu 37 5 169015490 169015490 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 169015490 169015490 G A SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.70 p.A24T 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 32 0 0.00 14 3 17.65 SPSB1 0 genome.wustl.edu 37 1 9427595 9427595 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 9427595 9427595 G A SNP SPSB1 ENST00000328089 human ensembl 74_37 +1 known silent c.783 p.P261 0.986 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB1 HGNC ENSG00000171621 70 0 0.00 42 4 8.70 STARD13 0 genome.wustl.edu 37 13 33704134 33704134 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 13 33704134 33704134 A G SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.680 p.L227P 0.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 10 0 0.00 4 6 60.00 SYNE1 0 genome.wustl.edu 37 6 152780060 152780060 + Missense_Mutation SNP T T A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 152780060 152780060 T A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2400 p.K800N 0.999 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 15 0 0.00 11 4 26.67 SYNE2 0 genome.wustl.edu 37 14 64548248 64548248 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 14 64548248 64548248 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.11434 p.A3812T 0.002 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 45 0 0.00 16 3 15.79 TAF1 0 genome.wustl.edu 37 X 70609454 70609454 + Missense_Mutation SNP A A T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d X 70609454 70609454 A T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.2717 p.K906I 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 42 0 0.00 22 4 15.38 TARM1 0 genome.wustl.edu 37 19 54579141 54579141 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 54579141 54579141 C T SNP TARM1 ENST00000432826 human ensembl 74_37 -1 known missense c.64 p.G22R 0.000 NULL smart_Ig_sub - no_errors TARM1 HGNC ENSG00000248385 25 0 0.00 0 2 100.00 TBX22 0 genome.wustl.edu 37 X 79283495 79283495 + Missense_Mutation SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d X 79283495 79283495 T C SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.869 p.V290A 0.994 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 74 0 0.00 48 4 7.69 TGM3 0 genome.wustl.edu 37 20 2291025 2291025 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 2291025 2291025 T G SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.383 p.L128R 0.959 superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 30 0 0.00 34 14 29.17 THAP9 0 genome.wustl.edu 37 4 83838327 83838327 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 83838327 83838327 C T SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.962 p.T321I 0.927 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 72 0 0.00 26 20 43.48 TIGD6 0 genome.wustl.edu 37 5 149375789 149375789 + Silent SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 5 149375789 149375789 G T SNP TIGD6 ENST00000296736 human ensembl 74_37 -1 known silent c.123 p.P41 0.948 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 56 0 0.00 55 4 6.78 TMTC1 0 genome.wustl.edu 37 12 29670402 29670402 + Silent SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 12 29670402 29670402 A C SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known silent c.1803 p.A601 0.000 pfam_TPR_1,pfam_TPR_2,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 61 0 0.00 28 4 12.50 TNR 0 genome.wustl.edu 37 1 175335227 175335227 + Missense_Mutation SNP A A G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 175335227 175335227 A G SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2101 p.S701P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 38 0 0.00 21 4 16.00 TOP1 0 genome.wustl.edu 37 20 39744934 39744934 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 39744934 39744934 A C SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.1724 p.K575T 1.000 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 67 0 0.00 23 10 30.30 TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 7578526 7578526 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.404 p.C135F 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 41 0 0.00 9 6 40.00 TPO 0 genome.wustl.edu 37 2 1440109 1440109 + Silent SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 1440109 1440109 T C SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.435 p.T145 0.017 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 64 0 0.00 43 11 20.37 TRIM27 0 genome.wustl.edu 37 6 28891220 28891220 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 28891220 28891220 G A SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.190 p.H64Y 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 16 0 0.00 13 4 23.53 TRPC1 0 genome.wustl.edu 37 3 142503559 142503559 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 3 142503559 142503559 C T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.974 p.S325F 1.000 tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 55 0 0.00 17 5 22.73 TRPV2 0 genome.wustl.edu 37 17 16335477 16335477 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 17 16335477 16335477 T G SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.1852 p.F618V 0.884 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 20 0 0.00 5 4 44.44 TTN 0 genome.wustl.edu 37 2 179590368 179590368 + Silent SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 179590368 179590368 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.16831 p.R5611 0.918 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-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 29 0 0.00 14 8 36.36 TTYH1 0 genome.wustl.edu 37 19 54942356 54942356 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 54942356 54942356 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known missense c.1112 p.R371H 0.988 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 79 0 0.00 58 4 6.45 TYK2 0 genome.wustl.edu 37 19 10473098 10473098 + Missense_Mutation SNP T T C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 10473098 10473098 T C SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.1511 p.K504R 0.884 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 59 0 0.00 13 9 40.91 UGGT1 0 genome.wustl.edu 37 2 128885000 128885000 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 128885000 128885000 G T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.1200 p.M400I 0.980 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 53 0 0.00 32 2 5.88 UNC13A 0 genome.wustl.edu 37 19 17746919 17746919 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 17746919 17746919 C A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3393 p.K1131N 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 94 0 0.00 23 16 41.03 UNC80 0 genome.wustl.edu 37 2 210699700 210699700 + Missense_Mutation SNP T T G TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 2 210699700 210699700 T G SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.3007 p.F1003V 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 48 0 0.00 28 11 28.21 USH2A 0 genome.wustl.edu 37 1 216373055 216373055 + Missense_Mutation SNP G G T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 216373055 216373055 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3725 p.P1242H 0.985 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 58 0 0.00 48 9 15.79 USH2A 0 genome.wustl.edu 37 1 216462627 216462627 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 1 216462627 216462627 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.1966 p.D656Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin 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 67 0 0.00 21 6 22.22 USP9Y 0 genome.wustl.edu 37 Y 14924810 14924810 + Nonsense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d Y 14924810 14924810 C T SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known nonsense c.4432 p.Q1478* 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 27 0 0.00 6 11 64.71 WDR17 0 genome.wustl.edu 37 4 177098797 177098797 + Nonsense_Mutation SNP A A T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 4 177098797 177098797 A T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known nonsense c.3841 p.K1281* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 66 0 0.00 16 8 33.33 WDR46 0 genome.wustl.edu 37 6 33255470 33255470 + Missense_Mutation SNP C C A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 6 33255470 33255470 C A SNP WDR46 ENST00000374617 human ensembl 74_37 -1 known missense c.649 p.G217C 1.000 superfamily_WD40_repeat_dom pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 39 0 0.00 20 9 31.03 ZEB1 0 genome.wustl.edu 37 10 31810100 31810100 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 10 31810100 31810100 A C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.1840 p.K614Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 43 0 0.00 7 7 50.00 ZFHX3 0 genome.wustl.edu 37 16 72984417 72984417 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 16 72984417 72984417 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.3167 p.R1056Q 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 35 0 0.00 12 4 25.00 ZNF222 0 genome.wustl.edu 37 19 44536823 44536823 + Missense_Mutation SNP A A C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 44536823 44536823 A C SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known missense c.1116 p.Q372H 0.870 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 ZNF222 HGNC ENSG00000159885 65 0 0.00 32 12 27.27 ZNF28 0 genome.wustl.edu 37 19 53303226 53303226 + Missense_Mutation SNP G G C TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 19 53303226 53303226 G C SNP ZNF28 ENST00000457749 human ensembl 74_37 -1 known missense c.1872 p.I624M 0.016 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 ZNF28 HGNC ENSG00000198538 97 0 0.00 47 17 26.56 ZNF397 0 genome.wustl.edu 37 18 32825283 32825283 + Missense_Mutation SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 18 32825283 32825283 G A SNP ZNF397 ENST00000330501 human ensembl 74_37 +1 known missense c.614 p.G205E 0.386 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 51 0 0.00 15 11 42.31 ZNFX1 0 genome.wustl.edu 37 20 47871098 47871098 + Missense_Mutation SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 73e30098-463c-4d83-b6f7-dcc43fad6592 3fc2bd45-8cf9-420d-b900-a0fee703731d 20 47871098 47871098 C T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.2893 p.E965K 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 38 0 0.00 14 13 48.15