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 ABCA12 0 genome.wustl.edu 37 2 215876323 215876323 + Silent SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 215876323 215876323 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.2172 p.T724 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 106 0 0.00 84 8 8.70 ABCG1 0 genome.wustl.edu 37 21 43711665 43711665 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 21 43711665 43711665 G A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2026 p.D676N 1.000 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 tier1 - - 128 0 0.00 82 10 10.64 ACOX3 0 genome.wustl.edu 37 4 8396463 8396463 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 4 8396463 8396463 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 tier1 rs149218868 - 25 0 0.00 17 6 26.09 ACSL6 0 genome.wustl.edu 37 5 131324532 131324532 + Silent SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 5 131324532 131324532 C G SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known silent c.618 p.L206 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 - - 131 0 0.00 112 11 8.94 ACTN4 0 genome.wustl.edu 37 19 39196752 39196752 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 39196752 39196752 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.553 p.V185M 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 46 0 0.00 54 11 16.92 ADSS 0 genome.wustl.edu 37 1 244583585 244583585 + Missense_Mutation SNP T T G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 244583585 244583585 T G SNP ADSS ENST00000366535 human ensembl 74_37 -1 known missense c.677 p.K226T 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 tier1 - - 98 0 0.00 72 9 11.11 AGAP3 0 genome.wustl.edu 37 7 150815396 150815396 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 150815396 150815396 C T SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.806 p.T269I 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,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,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 tier1 - - 126 0 0.00 119 15 11.19 ANGPTL2 0 genome.wustl.edu 37 9 129870419 129870419 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 9 129870419 129870419 C T SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.592 p.A198T 0.975 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 44 0 0.00 42 9 17.65 ANO4 0 genome.wustl.edu 37 12 101436229 101436229 + Silent SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 101436229 101436229 G A SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.1137 p.L379 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 100 0 0.00 103 9 8.04 ANPEP 0 genome.wustl.edu 37 15 90347522 90347522 + Silent SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 15 90347522 90347522 G T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known silent c.1141 p.R381 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 tier1 rs112384629 - 84 0 0.00 89 5 5.32 APAF1 0 genome.wustl.edu 37 12 99059556 99059556 + Missense_Mutation SNP A A C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 99059556 99059556 A C SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.1181 p.K394T 1.000 pfam_NB-ARC,pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 65 0 0.00 36 8 18.18 ASH1L 0 genome.wustl.edu 37 1 155447875 155447875 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 155447875 155447875 C G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.4786 p.E1596Q 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 70 0 0.00 65 9 12.00 ATP1A1 0 genome.wustl.edu 37 1 116940630 116940630 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 116940630 116940630 G T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.2094 p.K698N 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 tier1 - - 83 0 0.00 56 10 15.15 ATXN7 0 genome.wustl.edu 37 3 63981308 63981308 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 63981308 63981308 G A SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.1810 p.V604I 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 tier1 - - 85 0 0.00 69 6 8.00 BCLAF1 0 genome.wustl.edu 37 6 136599510 136599510 + Missense_Mutation SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 6 136599510 136599510 T C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.509 p.E170G 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 332 0 0.00 280 16 5.41 BICD1 0 genome.wustl.edu 37 12 32481441 32481441 + Missense_Mutation SNP A A C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 32481441 32481441 A C SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2052 p.K684N 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 72 0 0.00 80 5 5.81 C3orf17 0 genome.wustl.edu 37 3 112738400 112738400 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 112738400 112738400 C G SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known missense c.95 p.G32A 0.000 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 tier1 - - 39 0 0.00 25 5 16.67 C6orf118 0 genome.wustl.edu 37 6 165703443 165703444 + Frame_Shift_Ins INS - - T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 6 165703443 165703444 - T INS C6orf118 ENST00000230301 human ensembl 74_37 -1 known frame_shift_ins c.1234_1233 p.E411fs 0.913:0.919 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 195 0 0.00 135 16 10.60 CACNB2 0 genome.wustl.edu 37 10 18828309 18828309 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 10 18828309 18828309 C A SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1639 p.R547S 0.996 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 tier1 - - 29 0 0.00 25 16 39.02 CARKD 0 genome.wustl.edu 37 13 111276603 111276603 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 111276603 111276603 G T SNP CARKD ENST00000309957 human ensembl 74_37 +1 known missense c.274 p.A92S 1.000 pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel - no_errors CARKD HGNC ENSG00000213995 tier1 - - 191 0 0.00 187 30 13.82 CCDC135 0 genome.wustl.edu 37 16 57761241 57761241 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 16 57761241 57761241 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.2116 p.E706K 0.998 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 tier1 - - 133 0 0.00 131 11 7.75 CELSR2 0 genome.wustl.edu 37 1 109815086 109815086 + RNA SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 109815086 109815086 C T SNP CELSR2 ENST00000489018 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 38 0 0.00 54 10 15.62 CHST13 0 genome.wustl.edu 37 3 126261406 126261406 + Nonsense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 126261406 126261406 C G SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known nonsense c.1011 p.Y337* 0.991 NULL pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 tier1 - - 15 0 0.00 14 4 22.22 CIT 0 genome.wustl.edu 37 12 120260752 120260752 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 120260752 120260752 G T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.983 p.P328H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 - - 63 0 0.00 71 9 11.25 CNTNAP2 0 genome.wustl.edu 37 7 147815267 147815267 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 147815267 147815267 C G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2441 p.T814S 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 131 0 0.00 102 15 12.82 COL6A3 0 genome.wustl.edu 37 2 238275439 238275439 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 238275439 238275439 G C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.5391 p.F1797L 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 95 0 0.00 82 11 11.83 CRADD 0 genome.wustl.edu 37 12 94243993 94243993 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 94243993 94243993 C T SNP CRADD ENST00000332896 human ensembl 74_37 +1 known silent c.546 p.N182 0.001 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 tier1 - - 70 0 0.00 46 7 13.21 CXXC5 0 genome.wustl.edu 37 5 139060618 139060618 + Silent SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 5 139060618 139060618 G A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known silent c.510 p.E170 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 tier1 - - 76 0 0.00 60 7 10.45 DCLK1 0 genome.wustl.edu 37 13 36521535 36521535 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 36521535 36521535 C A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.783 p.E261D 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 36 0 0.00 47 10 17.54 DISC1 0 genome.wustl.edu 37 1 231830065 231830065 + Nonsense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 231830065 231830065 C A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known nonsense c.561 p.C187* 0.000 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 87 0 0.00 75 7 8.54 DMPK 0 genome.wustl.edu 37 19 46280652 46280652 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 46280652 46280652 C T SNP DMPK ENST00000343373 human ensembl 74_37 -1 known missense c.1109 p.G370D 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 tier1 - - 36 0 0.00 40 5 11.11 DNAH11 0 genome.wustl.edu 37 7 21938992 21938992 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 21938992 21938992 C G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.13109 p.T4370S 0.779 pfam_Dynein_heavy_dom 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 DNAH11 HGNC ENSG00000105877 tier1 - - 155 0 0.00 134 18 11.84 DNAJC27 0 genome.wustl.edu 37 2 25194706 25194706 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 25194706 25194706 C T SNP DNAJC27 ENST00000264711 human ensembl 74_37 -1 known missense c.68 p.G23D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC ENSG00000115137 tier1 - - 40 0 0.00 31 4 11.43 DNM1P47 0 genome.wustl.edu 37 15 102312241 102312241 + RNA DEL A A - TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 15 102312241 102312241 A - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 31 0 0.00 16 3 15.79 DPYSL5 0 genome.wustl.edu 37 2 27157526 27157526 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 27157526 27157526 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.871 p.A291T 0.999 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 261 0 0.00 228 29 11.28 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76652994 76652994 + RNA SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 76652994 76652994 G T SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 74_37 +1 known rna NULL NULL 0.088 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 tier1 - - 59 0 0.00 43 13 23.21 ELTD1 0 genome.wustl.edu 37 1 79383337 79383337 + Silent SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 79383337 79383337 T C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.1731 p.P577 0.990 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 43 0 0.00 35 4 10.26 ENSG00000242553 0 genome.wustl.edu 37 21 38593793 38593793 + RNA SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 21 38593793 38593793 C G SNP ENSG00000242553 ENST00000440629 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AP001432.14 Clone_based_vega_gene ENSG00000242553 tier1 - - 177 0 0.00 148 15 9.20 ERVW-1 0 genome.wustl.edu 37 7 92099196 92099196 + Missense_Mutation SNP A A G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 92099196 92099196 A G SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known missense c.500 p.L167P 0.600 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 tier1 rs74545114 - 26 0 0.00 29 7 19.44 FAM86B3P 0 genome.wustl.edu 37 8 8095880 8095880 + RNA SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 8095880 8095880 C T SNP FAM86B3P ENST00000590591 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM86B3P HGNC ENSG00000173295 tier1 - - 17 0 0.00 17 10 37.04 FBXO33 0 genome.wustl.edu 37 14 39870706 39870706 + Missense_Mutation SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 39870706 39870706 T C SNP FBXO33 ENST00000298097 human ensembl 74_37 -1 known missense c.1070 p.D357G 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO33 HGNC ENSG00000165355 tier1 - - 127 0 0.00 100 11 9.91 GCSAM 0 genome.wustl.edu 37 3 111845834 111845834 + Missense_Mutation SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 111845834 111845834 T C SNP GCSAM ENST00000308910 human ensembl 74_37 -1 known missense c.190 p.N64D 0.950 NULL NULL - no_errors GCSAM HGNC ENSG00000174500 tier1 - - 65 0 0.00 65 12 15.58 GKN1 0 genome.wustl.edu 37 2 69207075 69207075 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 69207075 69207075 C T SNP GKN1 ENST00000377938 human ensembl 74_37 +1 known missense c.388 p.P130S 1.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors GKN1 HGNC ENSG00000169605 tier1 - - 65 0 0.00 40 8 16.67 GPC6 0 genome.wustl.edu 37 13 94482727 94482727 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 94482727 94482727 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.640 p.A214T 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 59 0 0.00 50 12 19.35 GPR183 0 genome.wustl.edu 37 13 99948085 99948085 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 99948085 99948085 C G SNP GPR183 ENST00000376414 human ensembl 74_37 -1 known missense c.315 p.R105S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR183 HGNC ENSG00000169508 tier1 - - 69 0 0.00 82 9 9.78 GRM5 0 genome.wustl.edu 37 11 88780446 88780446 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 11 88780446 88780446 C A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.595 p.A199S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 74 0 0.00 50 13 20.63 GSAP 0 genome.wustl.edu 37 7 76984577 76984577 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 76984577 76984577 G A SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.1291 p.H431Y 1.000 NULL NULL - no_errors GSAP HGNC ENSG00000186088 tier1 - - 101 0 0.00 52 7 11.86 HEATR1 0 genome.wustl.edu 37 1 236762808 236762808 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 236762808 236762808 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.476 p.R159K 0.966 NULL pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 62 0 0.00 58 7 10.77 HERC2P8 0 genome.wustl.edu 37 16 33123844 33123844 + RNA SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 16 33123844 33123844 T C SNP HERC2P8 ENST00000567073 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P8 HGNC ENSG00000261599 tier1 - - 45 0 0.00 22 5 18.52 HIC2 0 genome.wustl.edu 37 22 21800636 21800636 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 22 21800636 21800636 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.1452 p.A484 0.020 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 tier1 - - 53 0 0.00 46 10 17.86 HIST1H2BF 0 genome.wustl.edu 37 6 26200065 26200065 + Silent SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 6 26200065 26200065 G A SNP HIST1H2BF ENST00000359985 human ensembl 74_37 +1 known silent c.279 p.R93 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC ENSG00000197846 tier1 - - 152 0 0.00 84 31 26.96 HMCN1 0 genome.wustl.edu 37 1 186084057 186084057 + Nonsense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 186084057 186084057 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.11383 p.R3795* 0.997 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 rs150673369 - 183 0 0.00 118 33 21.85 HMSD 0 genome.wustl.edu 37 18 61621773 61621773 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 18 61621773 61621773 G C SNP HMSD ENST00000408945 human ensembl 74_37 +1 known missense c.204 p.K68N 0.990 pfam_Serpin_dom,superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom - no_errors HMSD HGNC ENSG00000221887 tier1 - - 90 0 0.00 48 6 11.11 HNRNPA1L2 0 genome.wustl.edu 37 13 53217151 53217151 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 53217151 53217151 G T SNP HNRNPA1L2 ENST00000342657 human ensembl 74_37 +1 known missense c.524 p.C175F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 tier1 - - 100 0 0.00 76 7 8.43 HRCT1 0 genome.wustl.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 9 35906348 35906350 CTG - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.64_66 p.L25in_frame_del 0.168:0.493:0.516 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 17 0 0.00 18 2 10.00 IFI44L 0 genome.wustl.edu 37 1 79101113 79101113 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 79101113 79101113 C A SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.815 p.A272E 0.001 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 tier1 - - 109 0 0.00 92 15 14.02 IGSF9 0 genome.wustl.edu 37 1 159906269 159906269 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 159906269 159906269 C G SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.593 p.R198P 0.968 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 tier1 - - 60 0 0.00 47 8 14.55 INADL 0 genome.wustl.edu 37 1 62594611 62594611 + Silent SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 62594611 62594611 C A SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.5265 p.I1755 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 tier1 - - 76 0 0.00 69 16 18.82 ITFG3 0 genome.wustl.edu 37 16 310022 310022 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 16 310022 310022 C A SNP ITFG3 ENST00000301678 human ensembl 74_37 +1 known missense c.440 p.T147K 0.001 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 tier1 - - 38 0 0.00 28 7 20.00 ITGA7 0 genome.wustl.edu 37 12 56092216 56092216 + Silent SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 56092216 56092216 G A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.1275 p.F425 0.992 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 41 0 0.00 44 5 10.20 KARS 0 genome.wustl.edu 37 16 75669926 75669926 + Nonsense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 16 75669926 75669926 G A SNP KARS ENST00000319410 human ensembl 74_37 -1 known nonsense c.637 p.Q213* 0.977 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 tier1 - - 88 0 0.00 74 8 9.76 KCNN2 0 genome.wustl.edu 37 5 113740482 113740482 + Silent SNP A A C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 5 113740482 113740482 A C SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known silent c.930 p.P310 0.997 NULL 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 KCNN2 HGNC ENSG00000080709 tier1 - - 160 0 0.00 95 14 12.84 KRT2 0 genome.wustl.edu 37 12 53045392 53045392 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 53045392 53045392 G A SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.535 p.R179C 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 tier1 - - 112 0 0.00 77 24 23.76 LAMB4 0 genome.wustl.edu 37 7 107674717 107674717 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 107674717 107674717 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.4754 p.R1585L 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 145 0 0.00 90 18 16.67 LOC440518 0 genome.wustl.edu 37 19 22785624 22785624 + RNA SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 22785624 22785624 C T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 25 0 0.00 13 9 39.13 LOR 0 genome.wustl.edu 37 1 153233535 153233536 + In_Frame_Ins INS - - CGG TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 153233535 153233536 - CGG INS LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_ins c.110_111 p.41in_frame_insG 0.000:0.000 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 9 0 0.00 13 5 27.78 LRFN5 0 genome.wustl.edu 37 14 42356727 42356727 + Missense_Mutation SNP A A G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 42356727 42356727 A G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.899 p.E300G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 75 0 0.00 72 9 11.11 LRRC8C 0 genome.wustl.edu 37 1 90179312 90179312 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 90179312 90179312 G C SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known missense c.1183 p.V395L 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 tier1 - - 90 0 0.00 56 10 15.15 LRRIQ1 0 genome.wustl.edu 37 12 85638608 85638608 + Silent SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 85638608 85638608 T C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.5058 p.F1686 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 72 0 0.00 61 9 12.86 LTB4R2 0 genome.wustl.edu 37 14 24780762 24780762 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 24780762 24780762 C T SNP LTB4R2 ENST00000528054 human ensembl 74_37 +1 known missense c.985 p.R329W 0.874 prints_Leukotriene_B4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-2_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R2 Uniprot_gn ENSG00000272658 46 0 0.00 77 5 6.10 LYST 0 genome.wustl.edu 37 1 235918903 235918903 + Silent SNP A A G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 235918903 235918903 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.7104 p.D2368 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 238 0 0.00 212 27 11.30 M1AP 0 genome.wustl.edu 37 2 74808971 74808971 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 74808971 74808971 C G SNP M1AP ENST00000290536 human ensembl 74_37 -1 known missense c.599 p.S200T 0.748 NULL NULL - no_errors M1AP HGNC ENSG00000159374 tier1 - - 81 0 0.00 69 11 13.75 MDGA2 0 genome.wustl.edu 37 14 47426818 47426818 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 47426818 47426818 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.1848 p.L616 0.998 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 89 0 0.00 62 9 12.68 MDP1 0 genome.wustl.edu 37 14 24683307 24683307 + Nonsense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 24683307 24683307 G C SNP MDP1 ENST00000396833 human ensembl 74_37 -1 novel nonsense c.314 p.S105* 1.000 NULL superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC ENSG00000213920 tier1 - - 102 0 0.00 90 14 13.46 METTL15 0 genome.wustl.edu 37 11 28311785 28311785 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 11 28311785 28311785 G T SNP METTL15 ENST00000303459 human ensembl 74_37 +1 known missense c.440 p.S147I 1.000 pfam_RsmH,tigrfam_RsmH pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH - no_errors METTL15 HGNC ENSG00000169519 tier1 - - 36 0 0.00 24 5 17.24 MGAT3 0 genome.wustl.edu 37 22 39883371 39883371 + Nonsense_Mutation SNP A A T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 22 39883371 39883371 A T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known nonsense c.19 p.K7* 1.000 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 tier1 - - 171 0 0.00 123 15 10.87 MGLL 0 genome.wustl.edu 37 3 127441367 127441367 + Missense_Mutation SNP T T G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 127441367 127441367 T G SNP MGLL ENST00000265052 human ensembl 74_37 -1 known missense c.305 p.D102A 1.000 pfam_Lysophospholipase_put,pfam_AB_hydrolase_1 pfam_Lysophospholipase_put,pfam_AB_hydrolase_1,pfam_Lipase_3,pfam_Esterase_put,pfam_AB_hydrolase_3,prints_AB_hydrolase_1 - no_errors MGLL HGNC ENSG00000074416 tier1 - - 44 0 0.00 57 7 10.94 MRAS 0 genome.wustl.edu 37 3 138116307 138116307 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 138116307 138116307 G A SNP MRAS ENST00000289104 human ensembl 74_37 +1 known missense c.335 p.R112H 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 tier1 - - 53 0 0.00 21 6 22.22 MYH1 0 genome.wustl.edu 37 17 10399320 10399320 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 10399320 10399320 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.5116 p.A1706T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 95 0 0.00 65 14 17.72 MYH13 0 genome.wustl.edu 37 17 10235442 10235442 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 10235442 10235442 C G SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.2272 p.E758Q 0.450 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 52 0 0.00 43 5 10.42 NAGA 0 genome.wustl.edu 37 22 42461852 42461852 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 22 42461852 42461852 C A SNP NAGA ENST00000396398 human ensembl 74_37 -1 known missense c.649 p.D217Y 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 tier1 - - 37 0 0.00 32 4 11.11 NAPA-AS1 0 genome.wustl.edu 37 19 47998736 47998736 + RNA SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 47998736 47998736 G A SNP NAPA-AS1 ENST00000593284 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NAPA-AS1 HGNC ENSG00000268061 tier1 - - 81 0 0.00 94 12 11.32 NLRP2 0 genome.wustl.edu 37 19 55495058 55495058 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 55495058 55495058 G C SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1992 p.E664D 0.721 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 tier1 - - 71 0 0.00 57 7 10.94 OR10A7 0 genome.wustl.edu 37 12 55615453 55615453 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 55615453 55615453 G T SNP OR10A7 ENST00000326258 human ensembl 74_37 +1 known missense c.645 p.L215F 0.553 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A7 HGNC ENSG00000179919 tier1 - - 59 0 0.00 48 10 17.24 OR5K2 0 genome.wustl.edu 37 3 98217422 98217422 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 98217422 98217422 G T SNP OR5K2 ENST00000427338 human ensembl 74_37 +1 known missense c.898 p.V300F 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K2 HGNC ENSG00000231861 tier1 - - 39 0 0.00 43 6 12.24 OR6S1 0 genome.wustl.edu 37 14 21109841 21109841 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 21109841 21109841 C G SNP OR6S1 ENST00000320704 human ensembl 74_37 -1 known missense c.10 p.D4H 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6S1 HGNC ENSG00000181803 tier1 - - 145 0 0.00 95 12 11.21 OR9G1 0 genome.wustl.edu 37 11 56468163 56468163 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 11 56468163 56468163 C T SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known silent c.300 p.F100 0.999 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 OR9G1 HGNC ENSG00000174914 136 0 0.00 107 7 6.14 OTOF 0 genome.wustl.edu 37 2 26699772 26699772 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 26699772 26699772 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.2663 p.T888M 0.999 pfam_Ferlin_B-domain pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 58 0 0.00 40 8 16.67 PAF1 0 genome.wustl.edu 37 19 39876600 39876600 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 39876600 39876600 G C SNP PAF1 ENST00000595564 human ensembl 74_37 -1 known missense c.1413 p.H471Q 0.374 NULL pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 tier1 - - 34 0 0.00 28 5 15.15 PAPOLB 0 genome.wustl.edu 37 7 4901338 4901338 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 4901338 4901338 G A SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.101 p.T34M 0.459 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 19 0 0.00 32 5 13.51 PARP14 0 genome.wustl.edu 37 3 122433232 122433232 + Frame_Shift_Del DEL A A - TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 122433232 122433232 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.3956 p.N1322fs 0.974 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 tier1 31 0 0.00 43 4 8.51 PLA2G4A 0 genome.wustl.edu 37 1 186862278 186862278 + Missense_Mutation SNP A A C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 186862278 186862278 A C SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.251 p.E84A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 tier1 - - 181 0 0.00 127 25 16.45 POP7 0 genome.wustl.edu 37 7 100304559 100304559 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 100304559 100304559 G C SNP POP7 ENST00000303151 human ensembl 74_37 +1 known missense c.106 p.D36H 1.000 pfam_DNA/RNA-bd_Alba-like,pirsf_RNase_P/MRP_p20 pfam_DNA/RNA-bd_Alba-like,pirsf_RNase_P/MRP_p20 - no_errors POP7 HGNC ENSG00000172336 tier1 - - 123 0 0.00 78 23 22.77 POU2F3 0 genome.wustl.edu 37 11 120173035 120173035 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 11 120173035 120173035 C A SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known missense c.408 p.S136R 0.216 prints_TF_octamer pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 tier1 - - 30 0 0.00 40 5 11.11 PPM1D 0 genome.wustl.edu 37 17 58740467 58740467 + Nonsense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 58740467 58740467 C T SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known nonsense c.1372 p.R458* 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 tier1 - - 85 0 0.00 54 16 22.86 PRDM16 0 genome.wustl.edu 37 1 3350342 3350342 + Silent SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 3350342 3350342 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.3798 p.E1266 0.997 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 91 0 0.00 83 7 7.78 PSIP1 0 genome.wustl.edu 37 9 15506490 15506490 + RNA SNP A A C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 9 15506490 15506490 A C SNP PSIP1 ENST00000484265 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 - - 29 0 0.00 25 6 19.35 PSPC1 0 genome.wustl.edu 37 13 20346622 20346622 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 20346622 20346622 C G SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.434 p.R145T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 tier1 - - 153 0 0.00 153 20 11.56 PTDSS1 0 genome.wustl.edu 37 8 97311962 97311962 + Nonsense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 97311962 97311962 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known nonsense c.641 p.W214* 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 tier1 - - 150 0 0.00 245 23 8.58 PTPN21 0 genome.wustl.edu 37 14 88945628 88945630 + In_Frame_Del DEL TCC TCC - TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 88945628 88945630 TCC - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known in_frame_del c.2147_2145 p.E715in_frame_del 1.000:1.000:0.931 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 34 0 0.00 24 3 11.11 PTPRB 0 genome.wustl.edu 37 12 71003565 71003565 + Frame_Shift_Del DEL C C - TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 71003565 71003565 C - DEL PTPRB ENST00000261266 human ensembl 74_37 -1 known frame_shift_del c.30 p.L10fs 1.000 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 20 0 0.00 3 2 40.00 PTPRN 0 genome.wustl.edu 37 2 220156242 220156242 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 220156242 220156242 C G SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.2679 p.K893N 0.889 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 tier1 - - 45 0 0.00 41 13 24.07 RARA 0 genome.wustl.edu 37 17 38508602 38508602 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 38508602 38508602 G C SNP RARA ENST00000254066 human ensembl 74_37 +1 known missense c.650 p.R217P 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 tier1 - - 130 0 0.00 100 12 10.71 RBM15 0 genome.wustl.edu 37 1 110883253 110883253 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 110883253 110883253 C T SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.1226 p.S409F 0.193 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 tier1 - - 61 0 0.00 59 6 9.23 RBM39 0 genome.wustl.edu 37 20 34312510 34312510 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 20 34312510 34312510 G C SNP RBM39 ENST00000253363 human ensembl 74_37 -1 known missense c.669 p.I223M 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 tier1 - - 126 0 0.00 144 8 5.26 RGS12 0 genome.wustl.edu 37 4 3441212 3441212 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 4 3441212 3441212 C G SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.4145 p.P1382R 0.556 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 93 0 0.00 60 14 18.92 RNF31 0 genome.wustl.edu 37 14 24621178 24621178 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 24621178 24621178 G A SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2107 p.G703S 0.767 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 26 0 0.00 30 3 9.09 RP1 0 genome.wustl.edu 37 8 55534054 55534054 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 55534054 55534054 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.528 p.V176 0.421 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 121 0 0.00 130 8 5.80 RPAP1 0 genome.wustl.edu 37 15 41815096 41815096 + Missense_Mutation SNP A A G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 15 41815096 41815096 A G SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.2609 p.L870P 0.999 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 57 0 0.00 42 4 8.70 SCEL 0 genome.wustl.edu 37 13 78130729 78130729 + Splice_Site SNP A A G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 78130729 78130729 A G SNP SCEL ENST00000349847 human ensembl 74_37 +1 known splice_site c.44-2 e2-2 0.958 - - - no_errors SCEL HGNC ENSG00000136155 tier1 - - 253 0 0.00 214 55 20.45 SFMBT2 0 genome.wustl.edu 37 10 7214587 7214587 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 10 7214587 7214587 G T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2021 p.P674H 0.996 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 22 0 0.00 16 8 33.33 SFMBT2 0 genome.wustl.edu 37 10 7230678 7230678 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 10 7230678 7230678 G C SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1716 p.I572M 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 96 0 0.00 116 21 15.33 SGOL2 0 genome.wustl.edu 37 2 201440164 201440164 + Silent SNP T T C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 201440164 201440164 T C SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known silent c.3762 p.F1254 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 tier1 - - 82 0 0.00 63 22 25.88 SIRT2 0 genome.wustl.edu 37 19 39374312 39374312 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 39374312 39374312 C T SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known missense c.586 p.V196I 0.030 pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 60 0 0.00 61 4 6.15 SLC10A6 0 genome.wustl.edu 37 4 87746597 87746597 + Missense_Mutation SNP T T A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 4 87746597 87746597 T A SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known missense c.895 p.I299L 0.013 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 - - 76 0 0.00 82 7 7.87 SLC10A6 0 genome.wustl.edu 37 4 87746598 87746598 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 4 87746598 87746598 C T SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known silent c.894 p.L298 0.165 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 - - 77 0 0.00 80 7 7.95 SLC17A9 0 genome.wustl.edu 37 20 61594680 61594680 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 20 61594680 61594680 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.684 p.N228 0.968 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 42 0 0.00 36 5 12.20 SLC26A6 0 genome.wustl.edu 37 3 48670960 48670960 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 48670960 48670960 C T SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known silent c.132 p.L44 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 tier1 - - 101 0 0.00 76 8 9.52 SLC6A1 0 genome.wustl.edu 37 3 11067468 11067468 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 3 11067468 11067468 G C SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.859 p.D287H 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 tier1 - - 80 0 0.00 82 6 6.82 SLC6A15 0 genome.wustl.edu 37 12 85285836 85285836 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 85285836 85285836 C A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.64 p.D22Y 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 tier1 - - 136 0 0.00 91 19 17.12 SMARCA4 0 genome.wustl.edu 37 19 11143976 11143976 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 11143976 11143976 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3557 p.A1186V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 73 0 0.00 35 14 28.57 SMC2 0 genome.wustl.edu 37 9 106876273 106876273 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 9 106876273 106876273 G C SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.1443 p.K481N 0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 192 0 0.00 138 15 9.80 SORBS1 0 genome.wustl.edu 37 10 97111067 97111067 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 10 97111067 97111067 G A SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known missense c.3061 p.H1021Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 110 0 0.00 97 8 7.62 SORBS1 0 genome.wustl.edu 37 10 97111068 97111068 + Silent SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 10 97111068 97111068 G C SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.3060 p.R1020 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 113 0 0.00 96 9 8.57 SPAG1 0 genome.wustl.edu 37 8 101178094 101178094 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 101178094 101178094 C A SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.193 p.L65I 0.986 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 tier1 - - 56 0 0.00 59 6 9.23 SPPL2C 0 genome.wustl.edu 37 17 43923436 43923436 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 43923436 43923436 C T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.1164 p.F388 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 58 0 0.00 50 21 29.58 SPTBN2 0 genome.wustl.edu 37 11 66461675 66461675 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 11 66461675 66461675 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.4438 p.R1480C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 rs113974204 - 51 0 0.00 64 8 10.96 STAB2 0 genome.wustl.edu 37 12 104134528 104134528 + Missense_Mutation SNP T T A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 104134528 104134528 T A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5875 p.C1959S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 71 0 0.00 80 7 8.05 SYNE1 0 genome.wustl.edu 37 6 152563482 152563482 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 6 152563482 152563482 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.19786 p.Q6596E 1.000 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 tier1 - - 90 0 0.00 86 9 9.47 TAC1 0 genome.wustl.edu 37 7 97363084 97363084 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 97363084 97363084 G C SNP TAC1 ENST00000319273 human ensembl 74_37 +1 known missense c.173 p.R58T 1.000 smart_Tachykinin,prints_Protachykinin smart_Tachykinin,prints_Protachykinin - no_errors TAC1 HGNC ENSG00000006128 tier1 - - 133 0 0.00 113 11 8.87 TARS2 0 genome.wustl.edu 37 1 150470192 150470192 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 150470192 150470192 G A SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1207 p.A403T 0.995 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 31 0 0.00 25 5 15.62 TBC1D4 0 genome.wustl.edu 37 13 75915673 75915673 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 13 75915673 75915673 G C SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.1459 p.L487V 0.981 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 tier1 - - 60 0 0.00 44 12 21.43 TCEA1 0 genome.wustl.edu 37 8 54906225 54906225 + Missense_Mutation SNP T T A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 54906225 54906225 T A SNP TCEA1 ENST00000520534 human ensembl 74_37 -1 novel missense c.323 p.Y108F 0.999 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEA1 HGNC ENSG00000187735 tier1 - - 116 0 0.00 112 8 6.67 TECTA 0 genome.wustl.edu 37 11 121016359 121016359 + Missense_Mutation SNP T T G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 11 121016359 121016359 T G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3639 p.F1213L 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 128 0 0.00 116 16 12.12 TENM2 0 genome.wustl.edu 37 5 167517689 167517689 + Silent SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 5 167517689 167517689 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.1626 p.Q542 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 112 0 0.00 101 8 7.34 TEX35 0 genome.wustl.edu 37 1 178489921 178489921 + Missense_Mutation SNP C C A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 178489921 178489921 C A SNP TEX35 ENST00000319416 human ensembl 74_37 +1 known missense c.455 p.A152E 0.000 NULL NULL - no_errors TEX35 HGNC ENSG00000240021 tier1 - - 65 0 0.00 58 6 9.38 TMEM71 0 genome.wustl.edu 37 8 133771118 133771118 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 133771118 133771118 C T SNP TMEM71 ENST00000356838 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.990 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 tier1 - - 128 0 0.00 110 14 11.29 TOB1 0 genome.wustl.edu 37 17 48940751 48940751 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 48940751 48940751 C G SNP TOB1 ENST00000268957 human ensembl 74_37 -1 known missense c.628 p.G210R 1.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB1 HGNC ENSG00000141232 tier1 - - 67 0 0.00 51 7 12.07 TP53 0 genome.wustl.edu 37 17 7578524 7578524 + Nonsense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 7578524 7578524 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.406 p.Q136* 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 tier1 - - 42 0 0.00 31 14 31.11 TRAP1 0 genome.wustl.edu 37 16 3724428 3724428 + Missense_Mutation SNP G G A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 16 3724428 3724428 G A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.956 p.A319V 0.953 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 tier1 rs200973932 - 58 0 0.00 43 6 12.24 TRIB1 0 genome.wustl.edu 37 8 126448388 126448388 + Missense_Mutation SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 126448388 126448388 C T SNP TRIB1 ENST00000311922 human ensembl 74_37 +1 known missense c.794 p.A265V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB1 HGNC ENSG00000173334 52 0 0.00 71 4 5.33 TRIM9 0 genome.wustl.edu 37 14 51464791 51464791 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 14 51464791 51464791 G T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1568 p.T523N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 47 0 0.00 30 7 18.92 TRPV5 0 genome.wustl.edu 37 7 142606704 142606704 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 7 142606704 142606704 G C SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.1847 p.S616C 0.914 prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 tier1 - - 57 0 0.00 54 7 11.48 TSHZ3 0 genome.wustl.edu 37 19 31768382 31768382 + Nonsense_Mutation SNP T T A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 31768382 31768382 T A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known nonsense c.2317 p.K773* 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 73 0 0.00 64 14 17.95 TSPAN3 0 genome.wustl.edu 37 15 77348199 77348199 + Missense_Mutation SNP T T A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 15 77348199 77348199 T A SNP TSPAN3 ENST00000267970 human ensembl 74_37 -1 known missense c.262 p.I88F 0.980 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN3 HGNC ENSG00000140391 tier1 - - 102 0 0.00 89 14 13.59 TTN 0 genome.wustl.edu 37 2 179642497 179642497 + Missense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 179642497 179642497 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4414 p.Q1472K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 tier1 - - 88 0 0.00 84 12 12.50 TUBD1 0 genome.wustl.edu 37 17 57951908 57951908 + Missense_Mutation SNP A A T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 17 57951908 57951908 A T SNP TUBD1 ENST00000325752 human ensembl 74_37 -1 known missense c.926 p.M309K 1.000 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 tier1 - - 189 0 0.00 136 39 22.29 UGT2B7 0 genome.wustl.edu 37 4 69972908 69972908 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 4 69972908 69972908 G C SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.1018 p.D340H 0.993 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 tier1 - - 109 0 0.00 94 9 8.74 UHRF1BP1L 0 genome.wustl.edu 37 12 100451405 100451405 + Missense_Mutation SNP A A C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 12 100451405 100451405 A C SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.3368 p.L1123W 0.995 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 53 0 0.00 58 7 10.77 WDR11 0 genome.wustl.edu 37 10 122622314 122622315 + Frame_Shift_Ins INS - - A TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 10 122622314 122622315 - A INS WDR11 ENST00000263461 human ensembl 74_37 +1 known frame_shift_ins c.594_595 p.V200fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 tier1 190 0 0.00 118 29 19.73 WDR35 0 genome.wustl.edu 37 2 20146240 20146240 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 2 20146240 20146240 G C SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.1649 p.S550C 1.000 superfamily_WD40_repeat_dom,pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 tier1 - - 103 0 0.00 71 9 11.25 WDR65 0 genome.wustl.edu 37 1 43672509 43672509 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 1 43672509 43672509 C G SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known missense c.1661 p.S554C 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 tier1 - - 117 0 0.00 111 12 9.76 XKR4 0 genome.wustl.edu 37 8 56436779 56436779 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 8 56436779 56436779 C G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1946 p.T649S 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 25 0 0.00 42 6 12.50 ZFP36 0 genome.wustl.edu 37 19 39898759 39898759 + Missense_Mutation SNP G G C TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 39898759 39898759 G C SNP ZFP36 ENST00000597629 human ensembl 74_37 +1 known missense c.419 p.R140P 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 tier1 - - 107 0 0.00 119 11 8.46 ZNF454 0 genome.wustl.edu 37 5 178392207 178392207 + Nonsense_Mutation SNP G G T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 5 178392207 178392207 G T SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known nonsense c.802 p.G268* 1.000 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 ZNF454 HGNC ENSG00000178187 69 0 0.00 48 4 7.69 ZNF549 0 genome.wustl.edu 37 19 58049740 58049740 + Silent SNP C C T TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 58049740 58049740 C T SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known silent c.1368 p.R456 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 tier1 - - 73 0 0.00 72 14 16.28 ZNF577 0 genome.wustl.edu 37 19 52376292 52376292 + Missense_Mutation SNP C C G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 52376292 52376292 C G SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known missense c.951 p.Q317H 0.998 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 ZNF577 HGNC ENSG00000161551 tier1 - - 99 0 0.00 95 10 9.52 ZNF99 0 genome.wustl.edu 37 19 22940992 22940992 + Silent SNP A A G TCGA-SW-A7EB-01A-11D-A34U-08 TCGA-SW-A7EB-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq abe30688-9765-4e24-8b7d-3c04543b2441 f721f0b9-2b21-44d1-8b54-5385fbd52958 19 22940992 22940992 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1446 p.A482 0.055 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 ZNF99 HGNC ENSG00000213973 tier1 - - 78 0 0.00 79 6 7.06