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 OLFM3 0 genome.wustl.edu 37 1 102269822 102269822 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 102269822 102269822 T C SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.1409 p.H470R 1.000 smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 46 0 0 27 14 34.1463 COL11A1 0 genome.wustl.edu 37 1 103427801 103427801 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 103427801 103427801 A G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3081 p.G1027 0.613 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 56 0 0 39 18 31.5789 KIF1B 0 genome.wustl.edu 37 1 10381844 10381844 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 10381844 10381844 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.2149 p.R717W 0.993 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 57 0 0 57 4 6.55738 CASZ1 0 genome.wustl.edu 37 1 10703053 10703053 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 10703053 10703053 G T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.4025 p.P1342H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 50 0 0 36 9 20 SORT1 0 genome.wustl.edu 37 1 109897121 109897121 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 109897121 109897121 A G SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known silent c.576 p.S192 0.146 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 109 0 0 90 6 6.25 AMPD2 0 genome.wustl.edu 37 1 110172534 110172534 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 110172534 110172534 G A SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.2141 p.R714H 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 161 0 0 110 33 23.0769 KCNC4 0 genome.wustl.edu 37 1 110754481 110754481 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 110754481 110754481 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known silent c.360 p.D120 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 77 0 0 57 19 25 OVGP1 0 genome.wustl.edu 37 1 111959046 111959046 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 111959046 111959046 G C SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1055 p.A352G 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 93 0 0 59 30 33.7079 MTOR 0 genome.wustl.edu 37 1 11291474 11291474 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 11291474 11291474 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known silent c.2532 p.L844 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 96 0 0 89 6 6.31579 WNT2B 0 genome.wustl.edu 37 1 113058867 113058867 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 113058867 113058867 C T SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.509 p.P170L 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 136 0 0 123 18 12.766 PHTF1 0 genome.wustl.edu 37 1 114267508 114267508 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 114267508 114267508 G A SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known nonsense c.496 p.R166* 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 33 0 0 12 7 36.8421 BCL2L15 0 genome.wustl.edu 37 1 114424449 114424449 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 114424449 114424449 A G SNP BCL2L15 ENST00000393316 human ensembl 74_37 -1 known silent c.420 p.G140 0.107 NULL NULL - no_errors BCL2L15 HGNC ENSG00000188761 46 0 0 30 15 33.3333 TNFRSF4 0 genome.wustl.edu 37 1 1147460 1147460 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 1147460 1147460 A G SNP TNFRSF4 ENST00000379236 human ensembl 74_37 -1 known missense c.496 p.C166R 0.919 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4 - no_errors TNFRSF4 HGNC ENSG00000186827 42 0 0 42 9 17.6471 NGF 0 genome.wustl.edu 37 1 115829232 115829232 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 115829232 115829232 C T SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.185 p.R62H 0.001 pirsf_Nerve_growth_factor-like pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 56 0 0 73 4 5.19481 CD58 0 genome.wustl.edu 37 1 117064526 117064526 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 117064526 117064526 A G SNP CD58 ENST00000369489 human ensembl 74_37 -1 known splice_site c.706+2 e4+2 0.071 - - - no_errors CD58 HGNC ENSG00000116815 9 0 0 4 3 42.8571 CD2 0 genome.wustl.edu 37 1 117307144 117307144 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 117307144 117307144 G A SNP CD2 ENST00000369478 human ensembl 74_37 +1 known missense c.652 p.G218R 0.001 NULL pfam_Ig_C2-set,pfam_Ig_V-set,prints_CD2 - no_errors CD2 HGNC ENSG00000116824 48 0 0 39 13 25 AGTRAP 0 genome.wustl.edu 37 1 11796279 11796279 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 11796279 11796279 C T SNP AGTRAP ENST00000314340 human ensembl 74_37 +1 known missense c.14 p.A5V 0.485 pfam_Angiotensin_II_typ1_rcpt-assoc,smart_Angiotensin_II_typ1_rcpt-assoc pfam_Angiotensin_II_typ1_rcpt-assoc,smart_Angiotensin_II_typ1_rcpt-assoc - no_errors AGTRAP HGNC ENSG00000177674 19 0 0 12 8 40 WDR3 0 genome.wustl.edu 37 1 118475968 118475968 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 118475968 118475968 G A SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known missense c.26 p.R9H 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 62 0 0 56 7 11.1111 KIAA2013 0 genome.wustl.edu 37 1 11985559 11985559 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 11985559 11985559 G A SNP KIAA2013 ENST00000376576 human ensembl 74_37 -1 known missense c.736 p.L246F 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 27 0 0 21 9 30 NOTCH2 0 genome.wustl.edu 37 1 120462204 120462204 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 120462204 120462204 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known nonsense c.5512 p.R1838* 0.998 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 35 0 0 22 9 29.0323 MFN2 0 genome.wustl.edu 37 1 12049220 12049220 + Splice_Site SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 12049220 12049220 A T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 1.000 - - - no_errors MFN2 HGNC ENSG00000116688 81 0 0 66 6 8.33333 TNFRSF1B 0 genome.wustl.edu 37 1 12267073 12267073 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 12267073 12267073 G A SNP TNFRSF1B ENST00000376259 human ensembl 74_37 +1 known missense c.1382 p.S461N 0.204 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 71 0 0 60 23 27.7108 ACAP3 0 genome.wustl.edu 37 1 1236072 1236072 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 1236072 1236072 C A SNP ACAP3 ENST00000353662 human ensembl 74_37 -1 known missense c.213 p.E71D 1.000 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 60 0 0 36 12 25 ENSG00000234978 0 genome.wustl.edu 37 1 142803436 142803436 + RNA SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 142803436 142803436 T A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 22 0 0 19 7 26.9231 PDE4DIP 0 genome.wustl.edu 37 1 145075825 145075825 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 145075825 145075825 C T SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known missense c.38 p.R13Q 0.531 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 128 0 0 165 11 6.25 ANKRD34A 0 genome.wustl.edu 37 1 145473843 145473843 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 145473843 145473843 C T SNP ANKRD34A ENST00000323397 human ensembl 74_37 +1 known missense c.515 p.A172V 0.118 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 88 0 0 139 8 5.44218 PEX11B 0 genome.wustl.edu 37 1 145522811 145522811 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 145522811 145522811 A G SNP PEX11B ENST00000369306 human ensembl 74_37 +1 known silent c.672 p.K224 1.000 pfam_PEX11 pfam_PEX11 - no_errors PEX11B HGNC ENSG00000131779 137 0 0 136 33 19.5266 ANKRD35 0 genome.wustl.edu 37 1 145555745 145555745 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 145555745 145555745 G T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known silent c.93 p.G31 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 66 0 0 62 5 7.46269 NBPF12 0 genome.wustl.edu 37 1 146398325 146398325 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 146398325 146398325 G A SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known missense c.311 p.R104Q 0.001 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 164 0 0 181 21 10.396 BCL9 0 genome.wustl.edu 37 1 147091072 147091072 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 147091072 147091072 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.1111 p.R371C 1.000 pfam_BCL9_beta-catenin-bd_dom pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 208 0 0 180 31 14.6919 BCL9 0 genome.wustl.edu 37 1 147094164 147094164 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 147094164 147094164 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.2995 p.P999S 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 181 0 0 211 12 5.38117 BCL9 0 genome.wustl.edu 37 1 147094247 147094247 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 147094247 147094247 T C SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.3078 p.H1026 0.986 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 166 0 0 180 13 6.73575 PPIAL4A 0 genome.wustl.edu 37 1 147955256 147955256 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 147955256 147955256 A G SNP PPIAL4A ENST00000539781 human ensembl 74_37 -1 known missense c.89 p.L30P 0.972 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4A HGNC ENSG00000255963 23 0 0 14 5 26.3158 TARS2 0 genome.wustl.edu 37 1 150477205 150477205 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 150477205 150477205 A G SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1816 p.K606E 0.996 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 117 0 0 130 33 20.2454 ARNT 0 genome.wustl.edu 37 1 150789854 150789854 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 150789854 150789854 T C SNP ARNT ENST00000358595 human ensembl 74_37 -1 known missense c.1561 p.S521G 0.984 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 56 0 0 40 39 49.3671 SETDB1 0 genome.wustl.edu 37 1 150933321 150933321 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 150933321 150933321 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.2783 p.R928Q 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 100 0 0 113 8 6.61157 FAM63A 0 genome.wustl.edu 37 1 150970742 150970742 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 150970742 150970742 A G SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known missense c.1133 p.L378S 1.000 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 255 0 0 266 14 5 FAM63A 0 genome.wustl.edu 37 1 150973770 150973770 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 150973770 150973770 T C SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known missense c.676 p.K226E 1.000 pfam_DUF544 pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 93 0 0 51 60 54.0541 ZNF687 0 genome.wustl.edu 37 1 151259208 151259208 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 151259208 151259208 C T SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known silent c.441 p.G147 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 79 0 0 82 9 9.89011 PI4KB 0 genome.wustl.edu 37 1 151278691 151278691 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 151278691 151278691 C T SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1367 p.G456D 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 99 0 0 117 7 5.64516 TUFT1 0 genome.wustl.edu 37 1 151552160 151552160 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 151552160 151552160 C T SNP TUFT1 ENST00000538902 human ensembl 74_37 +1 known silent c.1017 p.D339 0.658 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 45 0 0 43 8 15.6863 CELF3 0 genome.wustl.edu 37 1 151680007 151680007 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 151680007 151680007 C T SNP CELF3 ENST00000290583 human ensembl 74_37 -1 known missense c.748 p.A250T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 35 0 0 37 4 9.7561 TDRKH 0 genome.wustl.edu 37 1 151748697 151748697 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 151748697 151748697 T C SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known silent c.1092 p.L364 0.980 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 93 0 0 100 21 17.3554 TCHH 0 genome.wustl.edu 37 1 152084132 152084132 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152084132 152084132 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.1561 p.R521C 0.007 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 217 0 0 243 16 6.17761 HRNR 0 genome.wustl.edu 37 1 152193216 152193216 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152193216 152193216 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.889 p.G297S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 381 0 0 362 20 5.2356 HRNR 0 genome.wustl.edu 37 1 152193811 152193811 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152193811 152193811 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.294 p.G98 1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 69 0 0 71 6 7.79221 FLG 0 genome.wustl.edu 37 1 152284603 152284603 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152284603 152284603 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2759 p.A920V 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 519 1 0.192308 316 280 46.9799 FLG 0 genome.wustl.edu 37 1 152285135 152285135 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152285135 152285135 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2227 p.S743G 0.002 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 669 1 0.149254 592 174 22.7154 FLG 0 genome.wustl.edu 37 1 152287065 152287065 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152287065 152287065 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.297 p.H99 0.011 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 52 0 0 27 37 57.8125 CRNN 0 genome.wustl.edu 37 1 152382565 152382565 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152382565 152382565 G A SNP CRNN ENST00000271835 human ensembl 74_37 -1 known silent c.993 p.H331 0.000 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 293 0 0 196 155 44.1595 CRNN 0 genome.wustl.edu 37 1 152382714 152382714 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152382714 152382714 C A SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.844 p.V282L 0.020 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 378 0 0 248 202 44.8889 LCE1E 0 genome.wustl.edu 37 1 152759923 152759923 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152759923 152759923 G T SNP LCE1E ENST00000368770 human ensembl 74_37 +1 known missense c.148 p.G50C 1.000 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 175 0 0 143 29 16.8605 IVL 0 genome.wustl.edu 37 1 152883824 152883824 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152883824 152883824 C T SNP IVL ENST00000368764 human ensembl 74_37 +1 known silent c.1551 p.D517 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 24 0 0 20 6 23.0769 S100A3 0 genome.wustl.edu 37 1 153520867 153520867 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 153520867 153520867 G A SNP S100A3 ENST00000368712 human ensembl 74_37 -1 known missense c.95 p.A32V 0.366 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub - no_errors S100A3 HGNC ENSG00000188015 209 0 0 251 48 16.0535 INTS3 0 genome.wustl.edu 37 1 153736608 153736608 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 153736608 153736608 G A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known silent c.1836 p.S612 0.549 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 122 0 0 120 24 16.6667 KAZN 0 genome.wustl.edu 37 1 15390105 15390105 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 15390105 15390105 A G SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.1085 p.N362S 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 56 0 0 33 9 21.4286 CREB3L4 0 genome.wustl.edu 37 1 153941754 153941754 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 153941754 153941754 G A SNP CREB3L4 ENST00000473340 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CREB3L4 HGNC ENSG00000143578 173 0 0 165 36 17.9104 RAB13 0 genome.wustl.edu 37 1 153955700 153955700 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 153955700 153955700 T C SNP RAB13 ENST00000368575 human ensembl 74_37 -1 known missense c.319 p.K107E 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB13 HGNC ENSG00000143545 170 0 0 145 9 5.84416 NUP210L 0 genome.wustl.edu 37 1 154027309 154027309 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 154027309 154027309 C T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known splice_site c.3241-1 e24-1 1.000 - - - no_errors NUP210L HGNC ENSG00000143552 37 0 0 29 20 40.8163 NUP210L 0 genome.wustl.edu 37 1 154113971 154113971 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 154113971 154113971 T C SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.502 p.M168V 0.999 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 105 0 0 105 12 10.2564 IL6R 0 genome.wustl.edu 37 1 154401816 154401816 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 154401816 154401816 T C SNP IL6R ENST00000368485 human ensembl 74_37 +1 known missense c.230 p.M77T 0.472 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL6R HGNC ENSG00000160712 73 0 0 60 14 18.9189 ZBTB7B 0 genome.wustl.edu 37 1 154987421 154987421 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 154987421 154987421 G A SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known silent c.387 p.G129 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB7B HGNC ENSG00000160685 54 0 0 77 5 6.09756 DCST1 0 genome.wustl.edu 37 1 155018875 155018875 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155018875 155018875 C G SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.1408 p.L470V 0.982 pfam_DC_STAMP-like pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 113 0 0 52 60 53.5714 TRIM46 0 genome.wustl.edu 37 1 155149471 155149471 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155149471 155149471 G T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.733 p.V245L 0.954 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 141 0 0 127 20 13.6054 TRIM46 0 genome.wustl.edu 37 1 155156381 155156381 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155156381 155156381 G A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known silent c.1995 p.S665 0.023 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 71 0 0 87 34 28.0992 MUC1 0 genome.wustl.edu 37 1 155161902 155161902 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155161902 155161902 A G SNP MUC1 ENST00000368395 human ensembl 74_37 -1 known silent c.231 p.D77 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC1 HGNC ENSG00000185499 120 0 0 128 30 18.9873 ASH1L 0 genome.wustl.edu 37 1 155322513 155322513 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155322513 155322513 A G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.7365 p.G2455 0.994 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain 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 48 0 0 66 6 8.33333 MSTO1 0 genome.wustl.edu 37 1 155717547 155717547 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155717547 155717547 G A SNP MSTO1 ENST00000452804 human ensembl 74_37 +1 known missense c.754 p.A252T 0.000 NULL pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 69 0 0 67 17 20.2381 UBQLN4 0 genome.wustl.edu 37 1 156011410 156011410 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156011410 156011410 C T SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.1519 p.A507T 0.020 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 29 0 0 27 4 12.9032 LAMTOR2 0 genome.wustl.edu 37 1 156025262 156025262 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156025262 156025262 C A SNP LAMTOR2 ENST00000489664 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LAMTOR2 HGNC ENSG00000116586 50 0 0 61 13 17.5676 MEX3A 0 genome.wustl.edu 37 1 156047288 156047288 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156047288 156047288 A G SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.640 p.F214L 0.861 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 25 0 0 20 24 54.5455 SMG5 0 genome.wustl.edu 37 1 156230351 156230351 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156230351 156230351 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2174 p.S725N 0.947 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 75 0 0 57 17 22.973 IQGAP3 0 genome.wustl.edu 37 1 156539249 156539249 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156539249 156539249 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.44 p.R15H 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 19 0 0 24 3 11.1111 RRNAD1 0 genome.wustl.edu 37 1 156702119 156702119 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156702119 156702119 G A SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.283 p.A95T 0.996 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 85 0 0 88 6 6.38298 SH2D2A 0 genome.wustl.edu 37 1 156779586 156779586 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156779586 156779586 G A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.611 p.A204V 0.004 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 192 0 0 251 18 6.69145 NTRK1 0 genome.wustl.edu 37 1 156849016 156849016 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156849016 156849016 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known silent c.1908 p.A636 0.008 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 56 0 0 56 19 25.3333 CASP9 0 genome.wustl.edu 37 1 15832493 15832493 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 15832493 15832493 C T SNP CASP9 ENST00000333868 human ensembl 74_37 -1 known missense c.712 p.G238S 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP9 HGNC ENSG00000132906 147 0 0 91 26 22.2222 IFI16 0 genome.wustl.edu 37 1 159021716 159021716 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 159021716 159021716 G A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1913 p.R638H 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 74 0 0 60 14 18.9189 CADM3 0 genome.wustl.edu 37 1 159162508 159162508 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 159162508 159162508 G A SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.472 p.V158I 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 134 0 0 115 41 26.2821 OR10J1 0 genome.wustl.edu 37 1 159409818 159409818 + Silent SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 159409818 159409818 A C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known silent c.270 p.P90 0.175 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 OR10J1 HGNC ENSG00000196184 63 0 0 61 29 32.2222 CRP 0 genome.wustl.edu 37 1 159683390 159683390 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 159683390 159683390 A G SNP CRP ENST00000255030 human ensembl 74_37 -1 known silent c.600 p.P200 0.027 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 119 0 0 133 12 8.27586 CRP 0 genome.wustl.edu 37 1 159684248 159684248 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 159684248 159684248 A G SNP CRP ENST00000255030 human ensembl 74_37 -1 known silent c.28 p.L10 0.000 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 45 0 0 33 7 17.5 CCDC19 0 genome.wustl.edu 37 1 159842807 159842807 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 159842807 159842807 G A SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1504 p.R502C 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 106 0 0 112 23 17.037 KCNJ10 0 genome.wustl.edu 37 1 160011752 160011752 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160011752 160011752 T C SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.571 p.N191D 0.364 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 118 0 0 137 37 21.2644 IGSF8 0 genome.wustl.edu 37 1 160062116 160062116 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160062116 160062116 C T SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known missense c.1682 p.G561D 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 105 0 0 181 17 8.58586 IGSF8 0 genome.wustl.edu 37 1 160062786 160062786 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160062786 160062786 C A SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known missense c.1240 p.G414W 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 44 0 0 47 20 29.8507 ATP1A4 0 genome.wustl.edu 37 1 160141449 160141449 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160141449 160141449 A G SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.1756 p.M586V 0.987 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC 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 ATP1A4 HGNC ENSG00000132681 167 0 0 150 31 17.1271 DCAF8 0 genome.wustl.edu 37 1 160249918 160249918 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160249918 160249918 G A SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.272 p.T91I 0.067 pfam_Pex19 pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 195 0 0 201 67 25 NCSTN 0 genome.wustl.edu 37 1 160319417 160319417 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160319417 160319417 C A SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known silent c.393 p.A131 0.000 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 57 0 0 50 17 25.3731 SLC25A34 0 genome.wustl.edu 37 1 16065821 16065821 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16065821 16065821 G T SNP SLC25A34 ENST00000294454 human ensembl 74_37 +1 known missense c.835 p.G279C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A34 HGNC ENSG00000162461 104 0 0 60 31 34.0659 F11R 0 genome.wustl.edu 37 1 160970515 160970515 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160970515 160970515 G A SNP F11R ENST00000368026 human ensembl 74_37 -1 known silent c.294 p.S98 0.002 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors F11R HGNC ENSG00000158769 90 0 0 95 26 21.4876 NIT1 0 genome.wustl.edu 37 1 161090509 161090509 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161090509 161090509 A G SNP NIT1 ENST00000368009 human ensembl 74_37 +1 known missense c.938 p.H313R 1.000 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 68 0 0 77 14 15.3846 ADAMTS4 0 genome.wustl.edu 37 1 161165362 161165362 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161165362 161165362 C T SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known missense c.1154 p.S385N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 175 0 0 186 30 13.8889 NDUFS2 0 genome.wustl.edu 37 1 161183811 161183811 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161183811 161183811 G A SNP NDUFS2 ENST00000465923 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NDUFS2 HGNC ENSG00000158864 40 0 0 25 29 53.7037 NR1I3 0 genome.wustl.edu 37 1 161202682 161202682 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161202682 161202682 G A SNP NR1I3 ENST00000502848 human ensembl 74_37 -1 known missense c.293 p.A98V 0.153 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 106 0 0 140 30 17.6471 FCRLA 0 genome.wustl.edu 37 1 161681812 161681812 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161681812 161681812 G A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known silent c.657 p.L219 0.957 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 182 0 0 156 48 23.5294 OLFML2B 0 genome.wustl.edu 37 1 161969963 161969963 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161969963 161969963 G T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.889 p.R297 1.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 139 1 0.714286 124 35 22.0126 SH2D1B 0 genome.wustl.edu 37 1 162372511 162372511 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 162372511 162372511 C T SNP SH2D1B ENST00000493550 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SH2D1B HGNC ENSG00000198574 36 0 0 28 16 36.3636 SPEN 0 genome.wustl.edu 37 1 16257670 16257670 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16257670 16257670 A G SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.4935 p.V1645 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 335 1 0.297619 251 16 5.99251 SPEN 0 genome.wustl.edu 37 1 16261773 16261773 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16261773 16261773 T A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.9038 p.V3013D 0.073 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 128 0 0 81 7 7.95455 ZBTB17 0 genome.wustl.edu 37 1 16271276 16271276 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16271276 16271276 G A SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.986 p.T329M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 28 0 0 27 3 10 HSD17B7 0 genome.wustl.edu 37 1 162773258 162773258 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 162773258 162773258 T C SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known missense c.680 p.L227S 0.985 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 46 0 0 22 21 48.8372 RGS4 0 genome.wustl.edu 37 1 163043395 163043395 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 163043395 163043395 G A SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.652 p.V218I 0.997 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 39 0 0 29 8 21.6216 RGS4 0 genome.wustl.edu 37 1 163044171 163044171 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 163044171 163044171 A G SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.730 p.T244A 0.962 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 366 0 0 279 104 27.154 EPHA2 0 genome.wustl.edu 37 1 16461594 16461594 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16461594 16461594 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1519 p.V507M 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 253 0 0 254 30 10.5634 EPHA2 0 genome.wustl.edu 37 1 16464532 16464532 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16464532 16464532 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.1128 p.C376 0.313 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 44 0 0 45 7 13.4615 PBX1 0 genome.wustl.edu 37 1 164761864 164761864 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 164761864 164761864 G A SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known silent c.399 p.A133 0.002 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 62 0 0 34 32 48.4848 LRRC52 0 genome.wustl.edu 37 1 165532864 165532864 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 165532864 165532864 C T SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known silent c.745 p.L249 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 61 0 0 60 4 6.25 SPATA21 0 genome.wustl.edu 37 1 16736474 16736474 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16736474 16736474 G A SNP SPATA21 ENST00000335496 human ensembl 74_37 -1 known missense c.209 p.A70V 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SPATA21 HGNC ENSG00000187144 57 0 0 38 16 29.6296 ADCY10 0 genome.wustl.edu 37 1 167863157 167863157 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 167863157 167863157 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.762 p.T254 0.994 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 44 0 0 32 14 30.4348 F5 0 genome.wustl.edu 37 1 169511145 169511145 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 169511145 169511145 T G SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.3183 p.E1061D 0.002 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 177 0 0 245 13 5.03876 NADK 0 genome.wustl.edu 37 1 1696665 1696665 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 1696665 1696665 A G SNP NADK ENST00000344463 human ensembl 74_37 -1 known splice_site c.179+2 e1+2 1.000 - - - no_errors NADK HGNC ENSG00000008130 94 0 0 102 28 21.5385 SELE 0 genome.wustl.edu 37 1 169696559 169696559 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 169696559 169696559 G A SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.1576 p.L526F 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 89 0 0 82 6 6.81818 C1orf112 0 genome.wustl.edu 37 1 169790902 169790902 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 169790902 169790902 T C SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known splice_site c.783+2 e7+2 1.000 - - - no_errors C1orf112 HGNC ENSG00000000460 19 0 0 22 4 15.3846 KIFAP3 0 genome.wustl.edu 37 1 170004596 170004596 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 170004596 170004596 T G SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.616 p.S206R 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 33 0 0 24 4 14.2857 ESPNP 0 genome.wustl.edu 37 1 17025939 17025939 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 17025939 17025939 A G SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 8 0 0 6 4 40 CROCC 0 genome.wustl.edu 37 1 17256644 17256644 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 17256644 17256644 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.563 p.S188L 0.992 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 23 0 0 20 3 13.0435 TNN 0 genome.wustl.edu 37 1 175067636 175067636 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 175067636 175067636 T C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2024 p.L675P 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 125 0 0 122 26 17.5676 BRINP2 0 genome.wustl.edu 37 1 177250156 177250156 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 177250156 177250156 G T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1844 p.R615M 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 63 0 0 49 15 23.4375 FAM20B 0 genome.wustl.edu 37 1 179013231 179013231 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 179013231 179013231 G T SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known missense c.249 p.E83D 1.000 NULL pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 69 0 0 75 15 16.6667 LHX4 0 genome.wustl.edu 37 1 180235643 180235643 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 180235643 180235643 G A SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.365 p.R122Q 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 71 0 0 56 19 25.3333 XPR1 0 genome.wustl.edu 37 1 180849282 180849282 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 180849282 180849282 C T SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.1879 p.R627W 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 78 0 0 76 13 14.6067 STX6 0 genome.wustl.edu 37 1 180974585 180974585 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 180974585 180974585 G A SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.50 p.A17V 1.000 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 49 0 0 73 5 6.41026 MR1 0 genome.wustl.edu 37 1 181019368 181019368 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 181019368 181019368 A G SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.550 p.I184V 0.971 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 76 0 0 97 6 5.82524 ACTL8 0 genome.wustl.edu 37 1 18152415 18152415 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 18152415 18152415 G A SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.502 p.A168T 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 54 0 0 45 14 23.7288 CACNA1E 0 genome.wustl.edu 37 1 181690989 181690989 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 181690989 181690989 T C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.2052 p.I684 0.877 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 129 0 0 90 30 25 CACNA1E 0 genome.wustl.edu 37 1 181727162 181727162 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 181727162 181727162 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4409 p.R1470H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 118 0 0 135 19 12.3377 CACNA1E 0 genome.wustl.edu 37 1 181762849 181762849 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 181762849 181762849 A G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5947 p.I1983V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 29 0 0 22 3 12 LAMC1 0 genome.wustl.edu 37 1 183072489 183072489 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 183072489 183072489 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.445 p.R149C 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 205 0 0 226 17 6.99588 LAMC1 0 genome.wustl.edu 37 1 183094532 183094532 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 183094532 183094532 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2648 p.A883V 1.000 pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 91 0 0 98 20 16.9492 LAMC2 0 genome.wustl.edu 37 1 183195988 183195988 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 183195988 183195988 G T SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.1222 p.G408W 1.000 smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 279 0 0 306 26 7.83133 SMG7 0 genome.wustl.edu 37 1 183518986 183518986 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 183518986 183518986 G C SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.2923 p.A975P 0.994 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 70 0 0 64 16 20 TRMT1L 0 genome.wustl.edu 37 1 185125667 185125667 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 185125667 185125667 C T SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.178 p.A60T 1.000 NULL pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 21 0 0 32 5 13.5135 HMCN1 0 genome.wustl.edu 37 1 185959420 185959420 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 185959420 185959420 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.3222 p.V1074 0.598 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 386 0 0 393 25 5.98086 PLA2G4A 0 genome.wustl.edu 37 1 186839610 186839610 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 186839610 186839610 G A SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.77 p.R26H 0.946 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 27 0 0 27 3 10 UCHL5 0 genome.wustl.edu 37 1 193018904 193018904 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 193018904 193018904 C T SNP UCHL5 ENST00000367451 human ensembl 74_37 -1 known missense c.218 p.R73Q 1.000 pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37 pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37,prints_Peptidase_C12 - no_errors UCHL5 HGNC ENSG00000116750 44 0 0 63 8 11.2676 UBR4 0 genome.wustl.edu 37 1 19413188 19413188 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 19413188 19413188 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.14672 p.H4891R 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 68 0 0 41 12 22.6415 UBR4 0 genome.wustl.edu 37 1 19503100 19503100 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 19503100 19503100 T G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.2759 p.K920T 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 56 0 0 57 8 12.3077 PQLC2 0 genome.wustl.edu 37 1 19653833 19653833 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 19653833 19653833 G T SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.731 p.S244I 0.994 NULL superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 71 0 0 66 6 8.33333 CFHR5 0 genome.wustl.edu 37 1 196965192 196965192 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 196965192 196965192 C T SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.903 p.Y301 0.353 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 86 0 0 99 9 8.33333 F13B 0 genome.wustl.edu 37 1 197032137 197032137 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 197032137 197032137 A G SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.115 p.Y39H 1.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 139 0 0 119 22 15.6028 ASPM 0 genome.wustl.edu 37 1 197073597 197073597 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 197073597 197073597 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.4784 p.K1595R 0.027 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 45 0 0 54 4 6.89655 ASPM 0 genome.wustl.edu 37 1 197101439 197101439 + Silent SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 197101439 197101439 A C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.2463 p.P821 0.900 superfamily_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 48 0 0 36 29 44.6154 ASPM 0 genome.wustl.edu 37 1 197115434 197115434 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 197115434 197115434 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.134 p.C45Y 1.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 176 0 0 224 31 12.1569 CRB1 0 genome.wustl.edu 37 1 197390428 197390428 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 197390428 197390428 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.1470 p.G490 0.415 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 57 0 0 65 8 10.9589 CAPZB 0 genome.wustl.edu 37 1 19775381 19775381 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 19775381 19775381 A G SNP CAPZB ENST00000264203 human ensembl 74_37 -1 known missense c.28 p.F10L 0.000 NULL pfam_CapZ_beta,prints_CapZ_beta - no_errors CAPZB HGNC ENSG00000077549 56 0 0 48 17 26.1538 PTPRC 0 genome.wustl.edu 37 1 198701676 198701676 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 198701676 198701676 C T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.2133 p.S711 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 28 0 0 26 7 21.2121 GPR25 0 genome.wustl.edu 37 1 200842781 200842781 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 200842781 200842781 C A SNP GPR25 ENST00000304244 human ensembl 74_37 +1 known missense c.616 p.L206M 0.965 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 30 0 0 47 4 7.84314 KIF21B 0 genome.wustl.edu 37 1 200956152 200956152 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 200956152 200956152 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.3586 p.V1196I 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 132 0 0 117 26 18.1818 KIF21B 0 genome.wustl.edu 37 1 200959808 200959808 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 200959808 200959808 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.2731 p.A911T 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 42 0 0 46 10 17.8571 IPO9 0 genome.wustl.edu 37 1 201836035 201836035 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 201836035 201836035 G T SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.1803 p.M601I 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 136 0 0 143 10 6.53595 GPR37L1 0 genome.wustl.edu 37 1 202097427 202097427 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 202097427 202097427 C A SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.1189 p.L397M 1.000 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 128 0 0 117 42 26.4151 SYT2 0 genome.wustl.edu 37 1 202573722 202573722 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 202573722 202573722 G A SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.206 p.A69V 0.996 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 44 0 0 36 7 16.2791 KDM5B 0 genome.wustl.edu 37 1 202711578 202711578 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 202711578 202711578 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known nonsense c.2638 p.Q880* 0.997 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 82 0 0 108 22 16.9231 KLHL12 0 genome.wustl.edu 37 1 202862461 202862461 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 202862461 202862461 G A SNP KLHL12 ENST00000435533 human ensembl 74_37 -1 known missense c.1600 p.R534C 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC ENSG00000117153 193 1 0.515464 208 50 19.3798 CYB5R1 0 genome.wustl.edu 37 1 202934505 202934505 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 202934505 202934505 C A SNP CYB5R1 ENST00000367249 human ensembl 74_37 -1 known nonsense c.469 p.G157* 1.000 superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 290 0 0 301 62 17.0799 ATP2B4 0 genome.wustl.edu 37 1 203681119 203681119 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 203681119 203681119 C A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.2063 p.A688D 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 102 0 0 69 46 40 ZC3H11A 0 genome.wustl.edu 37 1 203816515 203816515 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 203816515 203816515 C T SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.1246 p.R416W 0.999 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 71 0 0 97 6 5.82524 LEMD1 0 genome.wustl.edu 37 1 205388357 205388357 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 205388357 205388357 C T SNP LEMD1 ENST00000367153 human ensembl 74_37 -1 known splice_site c.205+1 e2+1 1.000 - - - no_errors LEMD1 HGNC ENSG00000186007 72 0 0 71 17 19.3182 RASSF5 0 genome.wustl.edu 37 1 206757767 206757767 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 206757767 206757767 C T SNP RASSF5 ENST00000355294 human ensembl 74_37 +1 known missense c.739 p.R247W 0.997 NULL pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 118 0 0 118 28 19.1781 CR1 0 genome.wustl.edu 37 1 207700217 207700217 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 207700217 207700217 G A SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.1006 p.A336T 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 68 0 0 29 64 68.8172 TRAF3IP3 0 genome.wustl.edu 37 1 209955541 209955541 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 209955541 209955541 A G SNP TRAF3IP3 ENST00000480569 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TRAF3IP3 HGNC ENSG00000009790 36 0 0 40 7 14.8936 HHAT 0 genome.wustl.edu 37 1 210761342 210761342 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 210761342 210761342 T C SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.1144 p.Y382H 0.901 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 41 0 0 68 4 5.55556 PPP2R5A 0 genome.wustl.edu 37 1 212506858 212506858 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 212506858 212506858 G A SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known missense c.398 p.R133H 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 41 0 0 60 8 11.7647 TATDN3 0 genome.wustl.edu 37 1 212977736 212977736 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 212977736 212977736 A T SNP TATDN3 ENST00000366974 human ensembl 74_37 +1 known missense c.396 p.R132S 1.000 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN3 HGNC ENSG00000203705 42 0 0 42 7 14.2857 PTPN14 0 genome.wustl.edu 37 1 214537979 214537979 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 214537979 214537979 T C SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.3311 p.N1104S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,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 PTPN14 HGNC ENSG00000152104 96 0 0 92 25 21.3675 PTPN14 0 genome.wustl.edu 37 1 214557015 214557015 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 214557015 214557015 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.2183 p.R728Q 0.094 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,pfam_Dual-sp_phosphatase_cat-dom,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 PTPN14 HGNC ENSG00000152104 82 0 0 75 18 19.3548 CENPF 0 genome.wustl.edu 37 1 214819048 214819048 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 214819048 214819048 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6135 p.Q2045H 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 111 0 0 72 62 46.2687 USH2A 0 genome.wustl.edu 37 1 215853644 215853644 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 215853644 215853644 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.12141 p.N4047 0.990 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 107 0 0 100 28 21.875 USH2A 0 genome.wustl.edu 37 1 216260158 216260158 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 216260158 216260158 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.4890 p.S1630 0.023 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 33 0 0 27 5 15.625 USH2A 0 genome.wustl.edu 37 1 216538367 216538367 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 216538367 216538367 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.712 p.N238D 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 46 0 0 43 8 15.6863 GPATCH2 0 genome.wustl.edu 37 1 217665003 217665003 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 217665003 217665003 G T SNP GPATCH2 ENST00000489246 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GPATCH2 HGNC ENSG00000092978 52 0 0 53 18 25.3521 RAP1GAP 0 genome.wustl.edu 37 1 21977933 21977933 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 21977933 21977933 A G SNP RAP1GAP ENST00000374757 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RAP1GAP HGNC ENSG00000076864 32 0 0 21 6 22.2222 BPNT1 0 genome.wustl.edu 37 1 220253145 220253145 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 220253145 220253145 G A SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.44 p.A15V 0.993 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 52 0 0 65 10 13.3333 LDLRAD2 0 genome.wustl.edu 37 1 22142503 22142503 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 22142503 22142503 C A SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known silent c.579 p.P193 0.521 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 131 0 0 75 28 27.1845 HSPG2 0 genome.wustl.edu 37 1 22154539 22154539 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 22154539 22154539 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.12516 p.G4172 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 45 0 0 50 16 24.2424 HSPG2 0 genome.wustl.edu 37 1 22160011 22160011 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 22160011 22160011 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.10927 p.A3643T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 63 0 0 49 19 27.9412 HSPG2 0 genome.wustl.edu 37 1 22166485 22166485 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 22166485 22166485 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.9539 p.A3180V 0.994 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 219 0 0 108 61 36.0947 HHIPL2 0 genome.wustl.edu 37 1 222717093 222717093 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 222717093 222717093 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.760 p.P254S 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 78 0 0 69 27 28.125 MIA3 0 genome.wustl.edu 37 1 222806530 222806530 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 222806530 222806530 T C SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.3416 p.V1139A 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 171 0 0 137 49 26.3441 FBXO28 0 genome.wustl.edu 37 1 224318241 224318241 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 224318241 224318241 A G SNP FBXO28 ENST00000366862 human ensembl 74_37 +1 known missense c.335 p.Y112C 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 84 0 0 95 9 8.65385 EPHX1 0 genome.wustl.edu 37 1 226027006 226027006 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 226027006 226027006 G T SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.681 p.W227C 1.000 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 97 0 0 108 32 22.8571 PYCR2 0 genome.wustl.edu 37 1 226109705 226109705 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 226109705 226109705 G A SNP PYCR2 ENST00000343818 human ensembl 74_37 -1 known silent c.393 p.G131 0.001 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 46 0 0 40 15 27.2727 PARP1 0 genome.wustl.edu 37 1 226562029 226562029 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 226562029 226562029 T G SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known silent c.1968 p.T656 0.324 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 46 0 0 51 4 7.27273 SNAP47 0 genome.wustl.edu 37 1 227921073 227921073 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 227921073 227921073 C T SNP SNAP47 ENST00000480265 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC ENSG00000143740 23 0 0 29 13 30.9524 WNT9A 0 genome.wustl.edu 37 1 228109533 228109533 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228109533 228109533 C T SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known missense c.784 p.G262S 0.999 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 89 0 0 104 31 22.963 WNT3A 0 genome.wustl.edu 37 1 228246907 228246907 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228246907 228246907 C T SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.800 p.T267M 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 42 0 0 56 7 11.1111 OBSCN 0 genome.wustl.edu 37 1 228461075 228461075 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228461075 228461075 T C SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative missense c.6089 p.M2030T 0.975 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 72 0 0 90 22 19.6429 OBSCN 0 genome.wustl.edu 37 1 228461234 228461234 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228461234 228461234 G A SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative missense c.6248 p.R2083H 0.031 smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 62 0 0 51 9 15 OBSCN 0 genome.wustl.edu 37 1 228464274 228464274 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228464274 228464274 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.6344 p.R2115Q 0.895 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 34 0 0 41 7 14.5833 OBSCN 0 genome.wustl.edu 37 1 228503673 228503673 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228503673 228503673 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.13138 p.V4380M 0.879 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 13 0 0 19 8 29.6296 OBSCN 0 genome.wustl.edu 37 1 228547984 228547984 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228547984 228547984 T G SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.10748 p.L3583R 0.998 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 73 0 0 41 38 48.1013 TAF5L 0 genome.wustl.edu 37 1 229750037 229750037 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 229750037 229750037 G A SNP TAF5L ENST00000366674 human ensembl 74_37 -1 known missense c.193 p.R65C 0.000 NULL NULL - no_errors TAF5L HGNC ENSG00000135801 52 0 0 75 8 9.63855 C1QB 0 genome.wustl.edu 37 1 22987468 22987468 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 22987468 22987468 G T SNP C1QB ENST00000314933 human ensembl 74_37 +1 known missense c.351 p.K117N 0.996 smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 152 0 0 143 11 7.14286 GALNT2 0 genome.wustl.edu 37 1 230379077 230379077 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 230379077 230379077 G T SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known silent c.633 p.G211 0.806 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 106 0 0 115 9 7.25806 PGBD5 0 genome.wustl.edu 37 1 230486741 230486741 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 230486741 230486741 C T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known nonsense c.947 p.W316* 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 100 0 0 84 11 11.5789 PGBD5 0 genome.wustl.edu 37 1 230498082 230498082 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 230498082 230498082 G A SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.358 p.P120S 0.001 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 49 0 0 76 6 7.31707 TTC13 0 genome.wustl.edu 37 1 231060677 231060677 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 231060677 231060677 C T SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1631 p.R544H 0.999 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 116 0 0 82 64 43.8356 SIPA1L2 0 genome.wustl.edu 37 1 232649623 232649623 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 232649623 232649623 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1463 p.R488H 0.999 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 170 0 0 112 30 21.1268 PCNXL2 0 genome.wustl.edu 37 1 233363000 233363000 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 233363000 233363000 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known nonsense c.2476 p.R826* 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 104 0 0 83 13 13.5417 PEX10 0 genome.wustl.edu 37 1 2338232 2338232 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 2338232 2338232 G A SNP PEX10 ENST00000288774 human ensembl 74_37 -1 known nonsense c.763 p.Q255* 1.000 pfam_Pex_N pfam_Pex_N,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX10 HGNC ENSG00000157911 20 0 0 20 3 13.0435 B3GALNT2 0 genome.wustl.edu 37 1 235618966 235618966 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 235618966 235618966 C G SNP B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known missense c.1056 p.L352F 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 37 0 0 25 9 26.4706 HEATR1 0 genome.wustl.edu 37 1 236721732 236721732 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 236721732 236721732 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5009 p.A1670V 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 102 0 0 95 23 19.4915 ACTN2 0 genome.wustl.edu 37 1 236900364 236900364 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 236900364 236900364 G A SNP ACTN2 ENST00000494762 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACTN2 HGNC ENSG00000077522 19 0 0 16 5 23.8095 ACTN2 0 genome.wustl.edu 37 1 236902795 236902795 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 236902795 236902795 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1070 p.R357H 1.000 pfam_Spectrin_repeat 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 ACTN2 HGNC ENSG00000077522 73 0 0 58 18 23.6842 RYR2 0 genome.wustl.edu 37 1 237791219 237791219 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 237791219 237791219 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.6273 p.D2091 0.992 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 49 0 0 49 7 12.5 RYR2 0 genome.wustl.edu 37 1 237870335 237870335 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 237870335 237870335 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.9661 p.E3221K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 126 0 0 105 41 28.0822 CHRM3 0 genome.wustl.edu 37 1 240072104 240072104 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 240072104 240072104 G A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known silent c.1353 p.T451 0.930 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 58 0 0 25 29 53.7037 GREM2 0 genome.wustl.edu 37 1 240656287 240656287 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 240656287 240656287 G A SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known silent c.489 p.S163 1.000 pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 56 0 0 76 4 5 HMGCL 0 genome.wustl.edu 37 1 24140706 24140706 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 24140706 24140706 C T SNP HMGCL ENST00000374490 human ensembl 74_37 -1 known silent c.471 p.A157 0.000 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCL HGNC ENSG00000117305 98 0 0 59 24 28.9157 MYOM3 0 genome.wustl.edu 37 1 24398464 24398464 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 24398464 24398464 T G SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.3011 p.N1004T 1.000 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 74 0 0 64 6 8.57143 IFNLR1 0 genome.wustl.edu 37 1 24484104 24484104 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 24484104 24484104 G A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known missense c.1079 p.S360L 0.006 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 71 0 0 46 14 23.3333 TFB2M 0 genome.wustl.edu 37 1 246711878 246711878 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 246711878 246711878 C T SNP TFB2M ENST00000366514 human ensembl 74_37 -1 known missense c.827 p.R276Q 0.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 44 0 0 60 6 9.09091 AHCTF1 0 genome.wustl.edu 37 1 247039433 247039433 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 247039433 247039433 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.3021 p.D1007 0.952 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 20 0 0 17 4 19.0476 ZNF695 0 genome.wustl.edu 37 1 247150765 247150765 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 247150765 247150765 G T SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.1052 p.T351N 0.930 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 ZNF695 HGNC ENSG00000197472 18 0 0 13 3 18.75 ZNF670 0 genome.wustl.edu 37 1 247200798 247200798 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 247200798 247200798 T C SNP ZNF670 ENST00000366503 human ensembl 74_37 -1 known missense c.1123 p.S375G 0.072 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 ZNF670 HGNC ENSG00000135747 95 0 0 39 44 53.012 NIPAL3 0 genome.wustl.edu 37 1 24779967 24779967 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 24779967 24779967 G A SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known missense c.610 p.V204M 0.952 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 27 0 0 25 5 16.6667 OR2L8 0 genome.wustl.edu 37 1 248112950 248112950 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 248112950 248112950 T C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.791 p.L264P 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 99 0 0 55 51 48.1132 RHCE 0 genome.wustl.edu 37 1 25712334 25712334 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 25712334 25712334 A C SNP RHCE ENST00000294413 human ensembl 74_37 -1 known missense c.941 p.V314G 0.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 131 0 0 119 9 7.03125 MAN1C1 0 genome.wustl.edu 37 1 26104809 26104809 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 26104809 26104809 C T SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known missense c.1471 p.R491C 0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 69 0 0 64 6 8.57143 EXTL1 0 genome.wustl.edu 37 1 26357810 26357810 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 26357810 26357810 C A SNP EXTL1 ENST00000484339 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EXTL1 HGNC ENSG00000158008 35 0 0 18 9 33.3333 TRIM63 0 genome.wustl.edu 37 1 26383771 26383771 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 26383771 26383771 C T SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known missense c.902 p.G301D 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 78 0 0 63 16 20.2532 ZNF683 0 genome.wustl.edu 37 1 26694188 26694188 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 26694188 26694188 G T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.215 p.A72E 0.786 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 40 0 0 17 8 32 PIGV 0 genome.wustl.edu 37 1 27121141 27121141 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 27121141 27121141 G T SNP PIGV ENST00000078527 human ensembl 74_37 +1 known missense c.616 p.G206W 1.000 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 58 0 0 46 4 8 NR0B2 0 genome.wustl.edu 37 1 27240230 27240230 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 27240230 27240230 C T SNP NR0B2 ENST00000254227 human ensembl 74_37 -1 known missense c.202 p.A68T 0.871 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B2 HGNC ENSG00000131910 37 0 0 44 4 8.33333 WDTC1 0 genome.wustl.edu 37 1 27630238 27630238 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 27630238 27630238 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.1595 p.G532D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 193 0 0 117 47 28.6585 FCN3 0 genome.wustl.edu 37 1 27695732 27695732 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 27695732 27695732 G A SNP FCN3 ENST00000270879 human ensembl 74_37 -1 known nonsense c.895 p.R299* 0.003 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN3 HGNC ENSG00000142748 55 0 0 42 27 39.1304 SMPDL3B 0 genome.wustl.edu 37 1 28282613 28282613 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 28282613 28282613 C T SNP SMPDL3B ENST00000373888 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.000 NULL pfam_PEstase_dom - no_errors SMPDL3B HGNC ENSG00000130768 55 0 0 41 9 18 MED18 0 genome.wustl.edu 37 1 28661116 28661116 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 28661116 28661116 C A SNP MED18 ENST00000373842 human ensembl 74_37 +1 known missense c.262 p.L88M 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 124 0 0 100 48 32.4324 ACTRT2 0 genome.wustl.edu 37 1 2938735 2938735 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 2938735 2938735 C T SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.485 p.A162V 0.998 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 75 0 0 54 19 26.0274 PTPRU 0 genome.wustl.edu 37 1 29647292 29647292 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 29647292 29647292 C A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.3813 p.T1271 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 75 0 0 56 22 28.2051 PRDM16 0 genome.wustl.edu 37 1 3102700 3102700 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 3102700 3102700 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.49 p.V17I 0.809 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 95 0 0 64 27 29.6703 FABP3 0 genome.wustl.edu 37 1 31845853 31845853 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 31845853 31845853 G A SNP FABP3 ENST00000373713 human ensembl 74_37 -1 known silent c.9 p.D3 0.993 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP3 HGNC ENSG00000121769 69 0 0 53 17 24.2857 TINAGL1 0 genome.wustl.edu 37 1 32050532 32050532 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 32050532 32050532 C T SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known missense c.752 p.T251M 0.994 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 115 0 0 75 32 29.9065 ARHGEF16 0 genome.wustl.edu 37 1 3395177 3395177 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 3395177 3395177 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known splice_site c.1814+1 e11+1 1.000 - - - no_errors ARHGEF16 HGNC ENSG00000130762 45 0 0 28 5 15.1515 MEGF6 0 genome.wustl.edu 37 1 3412517 3412517 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 3412517 3412517 A G SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.3808 p.C1270R 0.760 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 14 0 0 11 5 31.25 MEGF6 0 genome.wustl.edu 37 1 3417775 3417775 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 3417775 3417775 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.2412 p.C804 0.959 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 41 0 0 40 3 6.97674 ZMYM1 0 genome.wustl.edu 37 1 35579555 35579555 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 35579555 35579555 G A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.2124 p.M708I 0.000 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 65 0 0 41 22 34.9206 CSF3R 0 genome.wustl.edu 37 1 36945039 36945039 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 36945039 36945039 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.59 p.P20L 0.899 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 64 0 0 41 14 25.4545 ZC3H12A 0 genome.wustl.edu 37 1 37948713 37948713 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 37948713 37948713 A T SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.1301 p.D434V 0.965 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 34 0 0 27 5 15.625 MANEAL 0 genome.wustl.edu 37 1 38265378 38265378 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 38265378 38265378 C T SNP MANEAL ENST00000373045 human ensembl 74_37 +1 known missense c.877 p.R293C 1.000 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 162 0 0 101 33 24.6269 INPP5B 0 genome.wustl.edu 37 1 38351483 38351483 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 38351483 38351483 G A SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known silent c.1386 p.G462 0.004 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 162 0 0 151 12 7.36196 MACF1 0 genome.wustl.edu 37 1 39753010 39753010 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 39753010 39753010 C A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.1576 p.L526M 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 117 0 0 87 20 18.6916 KIAA0754 0 genome.wustl.edu 37 1 39878979 39878979 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 39878979 39878979 C A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known silent c.2634 p.T878 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 30 0 0 21 6 22.2222 MACF1 0 genome.wustl.edu 37 1 39905101 39905101 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 39905101 39905101 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.12199 p.D4067N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 56 0 0 40 6 13.0435 HEYL 0 genome.wustl.edu 37 1 40105268 40105268 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 40105268 40105268 G A SNP HEYL ENST00000372852 human ensembl 74_37 -1 known silent c.30 p.S10 0.979 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 19 0 0 21 9 30 TRIT1 0 genome.wustl.edu 37 1 40313688 40313688 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 40313688 40313688 C T SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known missense c.785 p.R262H 1.000 pfam_IPPT,superfamily_P-loop_NTPase,tigrfam_tRNA_delta_PyrP_Trfase pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 56 0 0 61 6 8.95522 RLF 0 genome.wustl.edu 37 1 40706021 40706021 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 40706021 40706021 C T SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.5647 p.R1883W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 76 0 0 56 4 6.66667 NFYC 0 genome.wustl.edu 37 1 41223946 41223946 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 41223946 41223946 G A SNP NFYC ENST00000308733 human ensembl 74_37 +1 known missense c.541 p.A181T 0.994 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 37 0 0 29 9 23.6842 SCMH1 0 genome.wustl.edu 37 1 41514425 41514425 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 41514425 41514425 C T SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.1213 p.A405T 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 163 1 0.609756 130 25 16.129 HIVEP3 0 genome.wustl.edu 37 1 42045429 42045429 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 42045429 42045429 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.5040 p.S1680 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 87 0 0 72 12 14.2857 HIVEP3 0 genome.wustl.edu 37 1 42045971 42045971 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 42045971 42045971 A G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.4498 p.S1500P 0.004 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 87 0 0 50 21 29.5775 FAM183A 0 genome.wustl.edu 37 1 43613619 43613619 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43613619 43613619 G T SNP FAM183A ENST00000409337 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM183A HGNC ENSG00000186973 32 0 0 29 8 21.6216 MPL 0 genome.wustl.edu 37 1 43803832 43803832 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43803832 43803832 C A SNP MPL ENST00000372470 human ensembl 74_37 +1 known missense c.142 p.L48I 1.000 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 70 0 0 48 19 28.3582 MPL 0 genome.wustl.edu 37 1 43804224 43804224 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43804224 43804224 G A SNP MPL ENST00000372470 human ensembl 74_37 +1 known missense c.224 p.R75H 0.830 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 87 0 0 56 6 9.67742 CDC20 0 genome.wustl.edu 37 1 43825639 43825639 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43825639 43825639 G A SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known splice_site c.428-1 e4-1 1.000 - - - no_errors CDC20 HGNC ENSG00000117399 257 0 0 242 15 5.83658 SZT2 0 genome.wustl.edu 37 1 43907399 43907399 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43907399 43907399 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.7481 p.R2494Q 0.997 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 110 0 0 72 4 5.26316 SZT2 0 genome.wustl.edu 37 1 43909433 43909433 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43909433 43909433 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.8620 p.L2874 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 190 1 0.52356 154 9 5.52147 HYI 0 genome.wustl.edu 37 1 43917013 43917013 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 43917013 43917013 G A SNP HYI ENST00000486909 human ensembl 74_37 -1 putative silent c.828 p.G276 0.001 NULL pfam_Xyl_isomerase-like_TIM-brl,superfamily_Xyl_isomerase-like_TIM-brl - no_errors HYI HGNC ENSG00000178922 151 0 0 123 15 10.8696 PTPRF 0 genome.wustl.edu 37 1 44063524 44063524 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 44063524 44063524 C G SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1919 p.T640S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 13 0 0 9 5 35.7143 PTPRF 0 genome.wustl.edu 37 1 44083479 44083479 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 44083479 44083479 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.4268 p.T1423M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 65 0 0 50 20 28.5714 UROD 0 genome.wustl.edu 37 1 45479642 45479642 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 45479642 45479642 G A SNP UROD ENST00000246337 human ensembl 74_37 +1 known missense c.536 p.R179H 1.000 pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE - no_errors UROD HGNC ENSG00000126088 127 0 0 129 10 7.19424 ZSWIM5 0 genome.wustl.edu 37 1 45484137 45484137 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 45484137 45484137 G A SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.3547 p.R1183C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 112 0 0 69 19 21.5909 IPP 0 genome.wustl.edu 37 1 46211986 46211986 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 46211986 46211986 C T SNP IPP ENST00000396478 human ensembl 74_37 -1 known missense c.98 p.G33E 0.680 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 54 0 0 51 6 10.5263 LURAP1 0 genome.wustl.edu 37 1 46685586 46685586 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 46685586 46685586 G A SNP LURAP1 ENST00000371980 human ensembl 74_37 +1 known silent c.414 p.R138 0.134 NULL NULL - no_errors LURAP1 HGNC ENSG00000171357 60 0 0 53 24 31.1688 UQCRH 0 genome.wustl.edu 37 1 46775925 46775925 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 46775925 46775925 A G SNP UQCRH ENST00000311672 human ensembl 74_37 +1 known silent c.180 p.R60 0.694 pfam_Ubol_cytC_Rdtase_hinge_dom,superfamily_Ubol_cytC_Rdtase_hinge_dom pfam_Ubol_cytC_Rdtase_hinge_dom,superfamily_Ubol_cytC_Rdtase_hinge_dom - no_errors UQCRH HGNC ENSG00000173660 139 0 0 73 27 27 SLC5A9 0 genome.wustl.edu 37 1 48703366 48703366 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 48703366 48703366 C T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known silent c.1383 p.F461 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 73 0 0 81 5 5.81395 FAF1 0 genome.wustl.edu 37 1 50941256 50941256 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 50941256 50941256 G A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known silent c.1749 p.G583 0.996 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 77 0 0 43 18 29.5082 ZFYVE9 0 genome.wustl.edu 37 1 52703883 52703883 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 52703883 52703883 C T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.794 p.T265M 0.003 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 223 0 0 198 11 5.26316 FAM159A 0 genome.wustl.edu 37 1 53122609 53122609 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 53122609 53122609 T C SNP FAM159A ENST00000517870 human ensembl 74_37 +1 known missense c.470 p.L157P 0.006 NULL NULL - no_errors FAM159A HGNC ENSG00000182183 239 0 0 160 71 30.7359 GLIS1 0 genome.wustl.edu 37 1 53974874 53974874 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 53974874 53974874 C T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1624 p.G542R 0.034 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 13 0 0 10 8 44.4444 YIPF1 0 genome.wustl.edu 37 1 54331901 54331901 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 54331901 54331901 A T SNP YIPF1 ENST00000539954 human ensembl 74_37 -1 known missense c.878 p.L293H 1.000 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 91 0 0 61 16 20.7792 NPHP4 0 genome.wustl.edu 37 1 6029244 6029244 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 6029244 6029244 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.355 p.R119W 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 8 0 0 9 3 25 C1orf87 0 genome.wustl.edu 37 1 60456234 60456234 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 60456234 60456234 G A SNP C1orf87 ENST00000486478 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf87 HGNC ENSG00000162598 60 0 0 55 17 23.6111 C1orf87 0 genome.wustl.edu 37 1 60521111 60521111 + Splice_Site SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 60521111 60521111 C A SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known splice_site c.108-1 e2-1 0.977 - - - no_errors C1orf87 HGNC ENSG00000162598 55 0 0 61 4 6.15385 KCNAB2 0 genome.wustl.edu 37 1 6100681 6100681 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 6100681 6100681 C T SNP KCNAB2 ENST00000164247 human ensembl 74_37 +1 known missense c.53 p.T18M 0.997 prints_K_chnl_volt-dep_bsu_KCNAB2 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 49 0 0 53 6 10.1695 CHD5 0 genome.wustl.edu 37 1 6170003 6170003 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 6170003 6170003 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.5430 p.A1810 0.844 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 53 0 0 38 12 24 ICMT 0 genome.wustl.edu 37 1 6285304 6285304 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 6285304 6285304 T C SNP ICMT ENST00000343813 human ensembl 74_37 -1 known missense c.691 p.I231V 0.850 pfam_ICMT_MeTrfase pfam_ICMT_MeTrfase - no_errors ICMT HGNC ENSG00000116237 90 0 0 99 8 7.47664 DOCK7 0 genome.wustl.edu 37 1 62979425 62979425 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 62979425 62979425 C T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.4081 p.D1361N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 76 0 0 64 17 20.9877 DOCK7 0 genome.wustl.edu 37 1 63113940 63113940 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 63113940 63113940 C T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.569 p.S190N 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 67 0 0 48 25 34.2466 CACHD1 0 genome.wustl.edu 37 1 64936594 64936594 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 64936594 64936594 C T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.167 p.A56V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 25 0 0 28 5 15.1515 PLEKHG5 0 genome.wustl.edu 37 1 6529449 6529449 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 6529449 6529449 C A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.2232 p.Q744H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 209 0 0 188 10 5.05051 MIER1 0 genome.wustl.edu 37 1 67428798 67428798 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 67428798 67428798 G A SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known missense c.727 p.A243T 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 40 0 0 36 8 18.1818 C1orf141 0 genome.wustl.edu 37 1 67592863 67592863 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 67592863 67592863 C T SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known missense c.61 p.A21T 0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 49 0 0 50 4 7.40741 IL12RB2 0 genome.wustl.edu 37 1 67795357 67795357 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 67795357 67795357 T C SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.752 p.L251P 0.079 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 73 0 0 65 8 10.9589 IL12RB2 0 genome.wustl.edu 37 1 67795414 67795414 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 67795414 67795414 T C SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known splice_site c.807+2 e5+2 1.000 - - - no_errors IL12RB2 HGNC ENSG00000081985 48 0 0 56 5 8.19672 GNG12 0 genome.wustl.edu 37 1 68173335 68173335 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 68173335 68173335 G A SNP GNG12 ENST00000370982 human ensembl 74_37 -1 known missense c.35 p.A12V 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 157 0 0 103 31 23.1343 DIRAS3 0 genome.wustl.edu 37 1 68512564 68512564 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 68512564 68512564 A G SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known silent c.417 p.G139 0.002 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,tigrfam_Small_GTP-bd_dom 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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 154 0 0 107 38 26.2069 DEPDC1 0 genome.wustl.edu 37 1 68948218 68948218 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 68948218 68948218 C A SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known nonsense c.1273 p.G425* 1.000 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 133 1 0.746269 123 24 16.3265 ENSG00000237728 0 genome.wustl.edu 37 1 7449473 7449473 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 7449473 7449473 T C SNP ENSG00000237728 ENST00000411708 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-453P22.2 Clone_based_vega_gene ENSG00000237728 8 0 0 2 4 66.6667 CRYZ 0 genome.wustl.edu 37 1 75188879 75188879 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 75188879 75188879 G A SNP CRYZ ENST00000340866 human ensembl 74_37 -1 known missense c.187 p.P63S 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 84 0 0 48 28 36.8421 RABGGTB 0 genome.wustl.edu 37 1 76259894 76259894 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 76259894 76259894 A G SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known silent c.831 p.G277 0.959 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 110 0 0 87 37 29.8387 RERE 0 genome.wustl.edu 37 1 8420748 8420748 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 8420748 8420748 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.2819 p.P940L 0.988 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 35 0 0 30 12 28.5714 RERE 0 genome.wustl.edu 37 1 8422838 8422838 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 8422838 8422838 T C SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.1807 p.N603D 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 85 0 0 88 21 19.2661 ZNHIT6 0 genome.wustl.edu 37 1 86173881 86173881 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 86173881 86173881 G A SNP ZNHIT6 ENST00000370574 human ensembl 74_37 -1 known silent c.87 p.G29 0.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 120 0 0 79 34 30.0885 COL24A1 0 genome.wustl.edu 37 1 86203186 86203186 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 86203186 86203186 T G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.4675 p.K1559Q 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 15 0 0 14 3 17.6471 CLCA2 0 genome.wustl.edu 37 1 86920993 86920993 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 86920993 86920993 A G SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.2615 p.N872S 0.000 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 136 0 0 108 29 21.1679 NOC2L 0 genome.wustl.edu 37 1 891591 891591 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 891591 891591 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.491 p.R164H 0.113 NULL pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 68 0 0 55 5 8.33333 C1orf146 0 genome.wustl.edu 37 1 92707843 92707843 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 92707843 92707843 A G SNP C1orf146 ENST00000370375 human ensembl 74_37 +1 known silent c.141 p.S47 0.998 NULL NULL - no_errors C1orf146 HGNC ENSG00000203910 38 0 0 22 11 33.3333 DNTTIP2 0 genome.wustl.edu 37 1 94342778 94342778 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 94342778 94342778 T C SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known missense c.713 p.D238G 0.002 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 103 0 0 53 32 37.6471 SLC44A3 0 genome.wustl.edu 37 1 95290148 95290148 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 95290148 95290148 G A SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known missense c.235 p.V79M 0.983 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 127 0 0 96 33 25.5814 CNN3 0 genome.wustl.edu 37 1 95363514 95363514 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 95363514 95363514 C A SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known missense c.774 p.M258I 1.000 pfam_Calponin_repeat,pfscan_Calponin_repeat pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 120 0 0 97 35 26.5152 TMEM201 0 genome.wustl.edu 37 1 9657106 9657106 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 9657106 9657106 G A SNP TMEM201 ENST00000340381 human ensembl 74_37 +1 known missense c.424 p.E142K 0.992 pfam_Ima1_N pfam_DUF2448,pfam_Ima1_N - no_errors TMEM201 HGNC ENSG00000188807 80 0 0 78 13 14.2857 AGRN 0 genome.wustl.edu 37 1 977462 977462 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 977462 977462 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.1304 p.T435M 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 62 0 0 50 13 20.6349 AGRN 0 genome.wustl.edu 37 1 979585 979585 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 979585 979585 A C SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.2096 p.E699A 1.000 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 177 1 0.561798 116 41 26.1146 LPPR4 0 genome.wustl.edu 37 1 99764768 99764768 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 99764768 99764768 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.716 p.T239I 0.923 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 27 0 0 18 3 14.2857 HPSE2 0 genome.wustl.edu 37 10 100481539 100481539 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 100481539 100481539 G A SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known silent c.831 p.S277 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 51 0 0 40 21 34.4262 DNMBP 0 genome.wustl.edu 37 10 101715303 101715303 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 101715303 101715303 C T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.1928 p.R643H 0.999 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 54 0 0 67 7 9.45946 CWF19L1 0 genome.wustl.edu 37 10 102006622 102006622 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 102006622 102006622 T C SNP CWF19L1 ENST00000354105 human ensembl 74_37 -1 known missense c.779 p.D260G 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 30 0 0 27 14 34.1463 PAX2 0 genome.wustl.edu 37 10 102509534 102509534 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 102509534 102509534 G A SNP PAX2 ENST00000370296 human ensembl 74_37 +1 known silent c.75 p.G25 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 74 0 0 72 11 13.253 GBF1 0 genome.wustl.edu 37 10 104136818 104136818 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 104136818 104136818 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.4412 p.R1471Q 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 186 0 0 161 14 8 PSD 0 genome.wustl.edu 37 10 104173924 104173924 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 104173924 104173924 A G SNP PSD ENST00000020673 human ensembl 74_37 -1 known silent c.1155 p.P385 0.019 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 113 0 0 120 10 7.69231 TMEM180 0 genome.wustl.edu 37 10 104230805 104230805 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 104230805 104230805 A G SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.635 p.Q212R 0.278 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 115 0 0 139 8 5.44218 TRIM8 0 genome.wustl.edu 37 10 104416854 104416854 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 104416854 104416854 G A SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known missense c.1399 p.V467I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 109 0 0 74 27 26.7327 SHOC2 0 genome.wustl.edu 37 10 112745488 112745488 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 112745488 112745488 A G SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known missense c.806 p.Q269R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 72 0 0 38 14 26.9231 HABP2 0 genome.wustl.edu 37 10 115338407 115338407 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 115338407 115338407 G A SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known missense c.590 p.G197D 0.165 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 81 0 0 56 9 13.8462 NRAP 0 genome.wustl.edu 37 10 115411594 115411594 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 115411594 115411594 G A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.643 p.R215W 0.982 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 68 0 0 49 16 24.6154 ADRB1 0 genome.wustl.edu 37 10 115804193 115804193 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 115804193 115804193 C T SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.302 p.A101V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 98 0 0 94 5 5.05051 ATRNL1 0 genome.wustl.edu 37 10 117027824 117027824 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 117027824 117027824 A G SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2003 p.Y668C 1.000 smart_Plexin-like_fold pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 56 0 0 59 6 9.23077 EIF3A 0 genome.wustl.edu 37 10 120801952 120801952 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 120801952 120801952 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.3080 p.G1027E 0.992 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 280 0 0 198 68 25.5639 INPP5F 0 genome.wustl.edu 37 10 121586929 121586929 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 121586929 121586929 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known silent c.3036 p.S1012 0.624 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 132 0 0 131 11 7.74648 SEC23IP 0 genome.wustl.edu 37 10 121693245 121693245 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 121693245 121693245 C T SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known missense c.2969 p.T990I 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 20 0 0 11 2 15.3846 CDC123 0 genome.wustl.edu 37 10 12238292 12238292 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 12238292 12238292 G A SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known silent c.48 p.P16 0.827 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 116 0 0 95 26 21.4876 DMBT1 0 genome.wustl.edu 37 10 124402674 124402674 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 124402674 124402674 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.7002 p.S2334 0.089 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 105 0 0 85 25 22.7273 FLJ46361 0 genome.wustl.edu 37 10 124558335 124558335 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 124558335 124558335 C T SNP FLJ46361 ENST00000605982 human ensembl 74_37 +1 known rna NULL NULL 0.940 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 27 0 0 5 8 61.5385 ACADSB 0 genome.wustl.edu 37 10 124803957 124803957 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 124803957 124803957 G A SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.856 p.A286T 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 58 0 0 31 15 32.6087 CTBP2 0 genome.wustl.edu 37 10 126683154 126683154 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 126683154 126683154 C A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.2284 p.G762C 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 98 0 0 88 19 17.757 MMP21 0 genome.wustl.edu 37 10 127459133 127459133 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 127459133 127459133 G A SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.1007 p.A336V 0.134 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 50 0 0 46 17 26.9841 FAM196A 0 genome.wustl.edu 37 10 128952172 128952172 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 128952172 128952172 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known silent c.1200 p.T400 0.995 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 82 0 0 54 4 6.89655 FAM196A 0 genome.wustl.edu 37 10 128973723 128973723 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 128973723 128973723 A G SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.937 p.C313R 1.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 93 0 0 61 29 32.2222 LRRC27 0 genome.wustl.edu 37 10 134147114 134147114 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 134147114 134147114 C T SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known missense c.86 p.A29V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 47 0 0 42 21 33.3333 PWWP2B 0 genome.wustl.edu 37 10 134218819 134218819 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 134218819 134218819 G A SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.815 p.R272H 0.981 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 37 0 0 18 18 50 TTC40 0 genome.wustl.edu 37 10 134752108 134752108 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 134752108 134752108 C T SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.521 p.R174H 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 101 0 0 93 35 27.3438 DCLRE1C 0 genome.wustl.edu 37 10 14991060 14991060 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 14991060 14991060 T C SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.136 p.T46A 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 21 0 0 13 5 27.7778 FAM171A1 0 genome.wustl.edu 37 10 15255509 15255509 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 15255509 15255509 A G SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.2078 p.L693P 0.996 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 108 0 0 95 12 11.215 ITGA8 0 genome.wustl.edu 37 10 15760810 15760810 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 15760810 15760810 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.298 p.A100T 0.051 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 185 0 0 116 39 25.1613 CUBN 0 genome.wustl.edu 37 10 17145208 17145208 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 17145208 17145208 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.1446 p.N482 0.023 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 58 0 0 33 13 28.2609 PTPLA 0 genome.wustl.edu 37 10 17646017 17646017 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 17646017 17646017 C T SNP PTPLA ENST00000361271 human ensembl 74_37 -1 known missense c.287 p.R96H 1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLA HGNC ENSG00000165996 61 0 0 40 17 29.8246 ENSG00000240291 0 genome.wustl.edu 37 10 18828153 18828153 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 18828153 18828153 T C SNP ENSG00000240291 ENST00000425669 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-499P20.2 Clone_based_vega_gene ENSG00000240291 88 0 0 54 23 29.8701 KIAA1217 0 genome.wustl.edu 37 10 24832165 24832165 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 24832165 24832165 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.3966 p.H1322 0.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 81 0 0 72 26 26.5306 GPR158 0 genome.wustl.edu 37 10 25887176 25887176 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 25887176 25887176 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2621 p.P874L 0.999 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 197 0 0 147 9 5.76923 MTPAP 0 genome.wustl.edu 37 10 30653757 30653757 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 30653757 30653757 C T SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.425 p.R142Q 0.999 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 24 0 0 5 7 58.3333 ZEB1 0 genome.wustl.edu 37 10 31799797 31799797 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 31799797 31799797 A C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.681 p.R227S 1.000 pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 39 0 0 29 11 27.5 PITRM1 0 genome.wustl.edu 37 10 3185634 3185634 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 3185634 3185634 A T SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.2595 p.N865K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 69 0 0 74 4 5.12821 EPC1 0 genome.wustl.edu 37 10 32575927 32575927 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 32575927 32575927 G A SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known missense c.1169 p.S390L 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 39 0 0 22 9 29.0323 C10orf68 0 genome.wustl.edu 37 10 33018339 33018339 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 33018339 33018339 C T SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known silent c.780 p.S260 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 42 0 0 22 6 21.4286 ITGB1 0 genome.wustl.edu 37 10 33209310 33209310 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 33209310 33209310 G T SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.1132 p.L378I 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 39 0 0 28 13 31.7073 FZD8 0 genome.wustl.edu 37 10 35929958 35929958 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 35929958 35929958 G A SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known missense c.400 p.R134C 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 15 0 0 39 11 22 ANKRD30A 0 genome.wustl.edu 37 10 37421250 37421250 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 37421250 37421250 C T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.425 p.A142V 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 45 0 0 27 15 35.7143 RET 0 genome.wustl.edu 37 10 43622119 43622119 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 43622119 43622119 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.3136 p.A1046T 1.000 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 115 1 0.862069 81 27 25 CSGALNACT2 0 genome.wustl.edu 37 10 43678815 43678815 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 43678815 43678815 G A SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known nonsense c.1454 p.W485* 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 155 0 0 116 37 24.183 HNRNPF 0 genome.wustl.edu 37 10 43882324 43882324 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 43882324 43882324 T C SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known missense c.1009 p.T337A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 147 0 0 111 10 8.26446 TMEM72 0 genome.wustl.edu 37 10 45430173 45430173 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 45430173 45430173 C A SNP TMEM72 ENST00000544540 human ensembl 74_37 +1 known missense c.65 p.P22H 0.001 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 148 0 0 97 41 29.7101 ALOX5 0 genome.wustl.edu 37 10 45936884 45936884 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 45936884 45936884 T C SNP ALOX5 ENST00000475300 human ensembl 74_37 +1 known rna NULL NULL 0.064 - - - no_errors ALOX5 HGNC ENSG00000012779 136 0 0 74 30 28.8462 ALOX5 0 genome.wustl.edu 37 10 45938973 45938973 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 45938973 45938973 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.1561 p.R521C 0.493 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 43 0 0 40 9 18.3673 RBP3 0 genome.wustl.edu 37 10 48387994 48387994 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 48387994 48387994 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2884 p.A962T 1.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 106 0 0 87 5 5.43478 GDF10 0 genome.wustl.edu 37 10 48438588 48438588 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 48438588 48438588 G A SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.123 p.S41 0.003 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 19 0 0 19 9 32.1429 ARHGAP22 0 genome.wustl.edu 37 10 49791195 49791195 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 49791195 49791195 G A SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.37 p.R13C 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 113 0 0 84 5 5.61798 ERCC6 0 genome.wustl.edu 37 10 50678849 50678849 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 50678849 50678849 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.3157 p.R1053C 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 100 0 0 73 7 8.75 SLC18A3 0 genome.wustl.edu 37 10 50819414 50819414 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 50819414 50819414 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.628 p.R210C 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 34 0 0 22 13 37.1429 AKR1CL1 0 genome.wustl.edu 37 10 5204879 5204879 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 5204879 5204879 C A SNP AKR1CL1 ENST00000334314 human ensembl 74_37 -1 known missense c.198 p.Q66H 0.984 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC ENSG00000196326 127 0 0 76 29 27.619 RBM17 0 genome.wustl.edu 37 10 6157236 6157236 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 6157236 6157236 T C SNP RBM17 ENST00000379888 human ensembl 74_37 +1 known missense c.1064 p.I355T 1.000 smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC ENSG00000134453 27 0 0 21 5 19.2308 PRKCQ 0 genome.wustl.edu 37 10 6472834 6472834 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 6472834 6472834 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1903 p.R635W 0.992 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 59 0 0 65 4 5.7971 SLC25A16 0 genome.wustl.edu 37 10 70243270 70243270 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 70243270 70243270 A G SNP SLC25A16 ENST00000609923 human ensembl 74_37 -1 known silent c.918 p.L306 0.996 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC ENSG00000122912 80 0 0 79 8 9.1954 TET1 0 genome.wustl.edu 37 10 70451499 70451499 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 70451499 70451499 C A SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.6339 p.T2113 0.454 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 105 0 0 110 8 6.77966 STOX1 0 genome.wustl.edu 37 10 70646144 70646144 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 70646144 70646144 T A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.2592 p.S864R 0.003 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 76 0 0 69 29 29.5918 DDX50 0 genome.wustl.edu 37 10 70679634 70679634 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 70679634 70679634 G T SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.1136 p.G379V 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 105 0 0 67 21 23.8636 HK1 0 genome.wustl.edu 37 10 71128331 71128331 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 71128331 71128331 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.640 p.G214R 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 76 0 0 65 10 13.3333 TSPAN15 0 genome.wustl.edu 37 10 71266751 71266751 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 71266751 71266751 G A SNP TSPAN15 ENST00000459981 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN15 HGNC ENSG00000099282 21 0 0 15 5 25 COL13A1 0 genome.wustl.edu 37 10 71678073 71678073 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 71678073 71678073 G T SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known missense c.1029 p.K343N 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 49 0 0 45 10 18.1818 H2AFY2 0 genome.wustl.edu 37 10 71849835 71849835 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 71849835 71849835 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known silent c.192 p.A64 0.154 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 224 0 0 151 56 27.0531 SFMBT2 0 genome.wustl.edu 37 10 7214621 7214621 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 7214621 7214621 A G SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1987 p.Y663H 1.000 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 43 0 0 45 4 8.16327 ENSG00000197604 0 genome.wustl.edu 37 10 72195498 72195498 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 72195498 72195498 G T SNP ENSG00000197604 ENST00000420338 human ensembl 74_37 +1 novel missense c.445 p.G149C 1.000 NULL NULL - no_errors AC022532.1 Clone_based_ensembl_gene ENSG00000197604 82 0 0 52 15 22.3881 UNC5B 0 genome.wustl.edu 37 10 73056442 73056442 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 73056442 73056442 C T SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known silent c.2433 p.C811 0.803 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 112 0 0 67 6 8.21918 CDH23 0 genome.wustl.edu 37 10 73538028 73538028 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 73538028 73538028 G T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5165 p.C1722F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 84 0 0 55 10 15.3846 SFMBT2 0 genome.wustl.edu 37 10 7409719 7409719 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 7409719 7409719 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.328 p.G110S 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt 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 54 0 0 47 16 25.3968 PLA2G12B 0 genome.wustl.edu 37 10 74695441 74695441 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 74695441 74695441 G A SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known silent c.522 p.C174 1.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 84 0 0 64 30 31.9149 ZSWIM8 0 genome.wustl.edu 37 10 75550769 75550769 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 75550769 75550769 G A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known silent c.978 p.P326 0.939 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 83 0 0 55 26 32.0988 VCL 0 genome.wustl.edu 37 10 75863688 75863688 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 75863688 75863688 T C SNP VCL ENST00000211998 human ensembl 74_37 +1 known splice_site c.2131+2 e15+2 1.000 - - - no_errors VCL HGNC ENSG00000035403 48 0 0 46 4 8 KAT6B 0 genome.wustl.edu 37 10 76788772 76788772 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 76788772 76788772 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.4190 p.T1397M 0.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 69 0 0 63 10 13.6986 POLR3A 0 genome.wustl.edu 37 10 79745049 79745049 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 79745049 79745049 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.3121 p.I1041V 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 161 0 0 114 40 25.974 RPS24 0 genome.wustl.edu 37 10 79793784 79793784 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 79793784 79793784 C A SNP RPS24 ENST00000475468 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RPS24 HGNC ENSG00000138326 29 0 0 24 7 22.5806 NRG3 0 genome.wustl.edu 37 10 84745309 84745309 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 84745309 84745309 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.2111 p.A704V 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 86 0 0 83 5 5.68182 BMPR1A 0 genome.wustl.edu 37 10 88683138 88683138 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 88683138 88683138 G A SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.1348 p.V450M 0.776 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 55 0 0 41 17 29.3103 MMRN2 0 genome.wustl.edu 37 10 88703700 88703700 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 88703700 88703700 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.841 p.V281M 0.271 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 84 0 0 61 20 24.6914 LIPA 0 genome.wustl.edu 37 10 90988087 90988087 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 90988087 90988087 C T SNP LIPA ENST00000336233 human ensembl 74_37 -1 known missense c.298 p.A100T 0.980 NULL pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 106 0 0 56 23 29.1139 PANK1 0 genome.wustl.edu 37 10 91371754 91371754 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 91371754 91371754 T C SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.755 p.Y252C 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 85 0 0 80 7 8.04598 PANK1 0 genome.wustl.edu 37 10 91405007 91405007 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 91405007 91405007 G A SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.53 p.A18V 1.000 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 45 0 0 36 12 25 ANKRD1 0 genome.wustl.edu 37 10 92675364 92675364 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 92675364 92675364 A G SNP ANKRD1 ENST00000371697 human ensembl 74_37 -1 known missense c.785 p.L262P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD1 HGNC ENSG00000148677 67 0 0 34 14 29.1667 IDE 0 genome.wustl.edu 37 10 94274751 94274751 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 94274751 94274751 A G SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.710 p.V237A 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 147 0 0 96 28 22.5806 CYP26C1 0 genome.wustl.edu 37 10 94822674 94822674 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 94822674 94822674 G A SNP CYP26C1 ENST00000285949 human ensembl 74_37 +1 known silent c.627 p.T209 0.963 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC ENSG00000187553 56 0 0 59 4 6.34921 PLCE1 0 genome.wustl.edu 37 10 95790874 95790874 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 95790874 95790874 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.71 p.S24L 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 83 0 0 56 15 21.1268 CYP2C19 0 genome.wustl.edu 37 10 96602622 96602622 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 96602622 96602622 C T SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known silent c.990 p.V330 0.022 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 150 0 0 93 41 30.597 ANKRD2 0 genome.wustl.edu 37 10 99341172 99341172 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 99341172 99341172 G A SNP ANKRD2 ENST00000307518 human ensembl 74_37 +1 known splice_site c.735+1 e6+1 1.000 - - - no_errors ANKRD2 HGNC ENSG00000165887 40 0 0 38 15 28.3019 MUC6 0 genome.wustl.edu 37 11 1027176 1027176 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1027176 1027176 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2249 p.R750Q 0.010 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 81 0 0 66 29 30.5263 DDI1 0 genome.wustl.edu 37 11 103907643 103907643 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 103907643 103907643 G T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.93 p.K31N 0.042 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 178 0 0 193 12 5.85366 DDI1 0 genome.wustl.edu 37 11 103908618 103908618 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 103908618 103908618 G A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.1068 p.T356 0.424 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 72 0 0 66 10 13.1579 CASP4 0 genome.wustl.edu 37 11 104825595 104825595 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 104825595 104825595 A G SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known silent c.141 p.D47 0.001 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 85 0 0 69 22 24.1758 MSANTD4 0 genome.wustl.edu 37 11 105880389 105880389 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 105880389 105880389 C T SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known missense c.911 p.R304H 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 101 1 0.980392 84 15 15.1515 EXPH5 0 genome.wustl.edu 37 11 108388963 108388963 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 108388963 108388963 T C SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.630 p.Q210 0.998 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 58 0 0 69 4 5.47945 ARHGAP20 0 genome.wustl.edu 37 11 110494938 110494938 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 110494938 110494938 T C SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.451 p.M151V 0.000 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 40 0 0 27 9 25 ARHGAP20 0 genome.wustl.edu 37 11 110582930 110582930 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 110582930 110582930 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.25 p.E9K 1.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 15 0 0 5 4 44.4444 SIK2 0 genome.wustl.edu 37 11 111594562 111594562 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 111594562 111594562 A G SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.2490 p.P830 0.000 pirsf_Ser/Thr_kinase_SIK1/2 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_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 96 0 0 81 5 5.81395 TTC12 0 genome.wustl.edu 37 11 113215128 113215128 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 113215128 113215128 C T SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known missense c.1120 p.R374W 0.990 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 174 0 0 100 35 25.9259 DRD2 0 genome.wustl.edu 37 11 113286217 113286217 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 113286217 113286217 G A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.649 p.R217C 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_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 135 0 0 122 11 8.27068 USP28 0 genome.wustl.edu 37 11 113670121 113670121 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 113670121 113670121 G A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known silent c.3075 p.C1025 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 75 0 0 76 8 9.52381 USP28 0 genome.wustl.edu 37 11 113674571 113674571 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 113674571 113674571 C T SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.2687 p.R896Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 34 0 0 26 4 13.3333 GALNT18 0 genome.wustl.edu 37 11 11470434 11470434 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 11470434 11470434 G T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known silent c.285 p.S95 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 13 0 0 16 3 15.7895 GALNT18 0 genome.wustl.edu 37 11 11643004 11643004 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 11643004 11643004 G A SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.137 p.P46L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 124 0 0 110 8 6.77966 APOA1 0 genome.wustl.edu 37 11 116707013 116707013 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 116707013 116707013 G A SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known silent c.315 p.G105 0.002 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 128 0 0 83 22 20.9524 SIK3 0 genome.wustl.edu 37 11 116717120 116717120 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 116717120 116717120 C A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.3958 p.G1320C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 107 0 0 61 24 28.2353 CEP164 0 genome.wustl.edu 37 11 117265851 117265851 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 117265851 117265851 C T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.2857 p.R953W 0.005 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 90 0 0 57 27 32.1429 TMPRSS4 0 genome.wustl.edu 37 11 117985944 117985944 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 117985944 117985944 C T SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known silent c.1101 p.T367 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 51 0 0 33 5 13.1579 TMEM25 0 genome.wustl.edu 37 11 118403685 118403685 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 118403685 118403685 G T SNP TMEM25 ENST00000533102 human ensembl 74_37 +1 known missense c.436 p.G146C 1.000 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 105 0 0 79 26 24.7619 UPK2 0 genome.wustl.edu 37 11 118827987 118827987 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 118827987 118827987 G A SNP UPK2 ENST00000264031 human ensembl 74_37 +1 known missense c.278 p.G93D 0.275 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 82 0 0 52 21 28.7671 DPAGT1 0 genome.wustl.edu 37 11 118972338 118972338 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 118972338 118972338 G A SNP DPAGT1 ENST00000354202 human ensembl 74_37 -1 known missense c.28 p.P10S 1.000 NULL pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 124 0 0 78 29 27.1028 RNF26 0 genome.wustl.edu 37 11 119206877 119206877 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 119206877 119206877 C T SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.1045 p.P349S 0.000 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 82 0 0 49 29 37.1795 USP2 0 genome.wustl.edu 37 11 119230923 119230923 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 119230923 119230923 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known silent c.796 p.L266 1.000 pfam_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 29 0 0 24 10 29.4118 OAF 0 genome.wustl.edu 37 11 120097590 120097590 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 120097590 120097590 C T SNP OAF ENST00000328965 human ensembl 74_37 +1 known silent c.432 p.V144 0.288 NULL NULL - no_errors OAF HGNC ENSG00000184232 73 0 0 89 6 6.31579 ARHGEF12 0 genome.wustl.edu 37 11 120331450 120331450 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 120331450 120331450 A T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.2540 p.E847V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 79 0 0 79 8 9.1954 ARHGEF12 0 genome.wustl.edu 37 11 120351055 120351055 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 120351055 120351055 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.4096 p.R1366C 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 78 0 0 64 17 20.9877 GRIK4 0 genome.wustl.edu 37 11 120837914 120837914 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 120837914 120837914 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.2277 p.F759 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 56 0 0 53 5 8.62069 SORL1 0 genome.wustl.edu 37 11 121424682 121424682 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 121424682 121424682 C A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.2303 p.S768Y 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 225 0 0 147 45 23.4375 OR8D1 0 genome.wustl.edu 37 11 124180508 124180508 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 124180508 124180508 C T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.155 p.S52N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 120 0 0 87 37 29.8387 OR8D2 0 genome.wustl.edu 37 11 124189658 124189658 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 124189658 124189658 C T SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.436 p.A146T 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 92 0 0 39 14 26.4151 ROBO3 0 genome.wustl.edu 37 11 124742974 124742974 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 124742974 124742974 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.1525 p.A509T 0.173 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 61 0 0 59 23 28.0488 ROBO3 0 genome.wustl.edu 37 11 124748530 124748530 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 124748530 124748530 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.3371 p.T1124M 0.103 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 39 0 0 16 6 27.2727 PKNOX2 0 genome.wustl.edu 37 11 125300002 125300002 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 125300002 125300002 A T SNP PKNOX2 ENST00000298282 human ensembl 74_37 +1 known missense c.1157 p.Q386L 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX2 HGNC ENSG00000165495 83 0 0 72 20 21.7391 MUC5B 0 genome.wustl.edu 37 11 1264182 1264182 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1264182 1264182 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.6081 p.T2027 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 300 0 0 238 15 5.92885 MUC5B 0 genome.wustl.edu 37 11 1264202 1264202 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1264202 1264202 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.6101 p.G2034V 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 302 0 0 170 82 32.5397 MUC5B 0 genome.wustl.edu 37 11 1266716 1266716 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1266716 1266716 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.8615 p.M2872T 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 87 0 0 49 10 16.9492 ETS1 0 genome.wustl.edu 37 11 128333507 128333507 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 128333507 128333507 T C SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.1139 p.Q380R 1.000 pfam_Ets_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 92 0 0 43 29 40.2778 ETS1 0 genome.wustl.edu 37 11 128350152 128350152 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 128350152 128350152 G A SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.1057 p.R353W 1.000 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 69 0 0 62 25 28.7356 IGSF9B 0 genome.wustl.edu 37 11 133790109 133790109 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 133790109 133790109 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.3511 p.Y1171H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 76 0 0 90 7 7.21649 IGSF9B 0 genome.wustl.edu 37 11 133790638 133790638 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 133790638 133790638 G A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.2982 p.S994 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 42 0 0 41 9 18 IGSF9B 0 genome.wustl.edu 37 11 133806042 133806042 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 133806042 133806042 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.727 p.S243P 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Fibronectin_type3,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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 35 0 0 15 7 31.8182 NCAPD3 0 genome.wustl.edu 37 11 134048793 134048793 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 134048793 134048793 C T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.2598 p.L866 0.530 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 28 0 0 28 6 17.6471 NCAPD3 0 genome.wustl.edu 37 11 134062672 134062672 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 134062672 134062672 G A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.1957 p.H653Y 0.989 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 106 0 0 88 21 19.2661 B3GAT1 0 genome.wustl.edu 37 11 134253714 134253714 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 134253714 134253714 G T SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.520 p.P174T 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 21 0 0 18 4 18.1818 B3GAT1 0 genome.wustl.edu 37 11 134253811 134253811 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 134253811 134253811 C T SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known silent c.423 p.P141 0.591 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 24 0 0 20 7 25.9259 PDE3B 0 genome.wustl.edu 37 11 14882859 14882859 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 14882859 14882859 C T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known nonsense c.2833 p.R945* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 111 0 0 86 29 25.2174 KRTAP5-1 0 genome.wustl.edu 37 11 1606401 1606401 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1606401 1606401 C T SNP KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known missense c.79 p.G27S 0.402 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 244 0 0 144 52 26.5306 KRTAP5-2 0 genome.wustl.edu 37 11 1618965 1618965 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1618965 1618965 G A SNP KRTAP5-2 ENST00000412090 human ensembl 74_37 -1 known silent c.516 p.C172 1.000 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 203 0 0 118 34 22.3684 RPS13 0 genome.wustl.edu 37 11 17099016 17099016 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 17099016 17099016 A G SNP RPS13 ENST00000525634 human ensembl 74_37 -1 known missense c.32 p.L11P 1.000 pfam_Ribosomal_S13/S15_N pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC ENSG00000110700 39 0 0 29 8 21.6216 ABCC8 0 genome.wustl.edu 37 11 17496449 17496449 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 17496449 17496449 C A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.274 p.G92C 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 69 0 0 51 12 19.0476 USH1C 0 genome.wustl.edu 37 11 17531183 17531183 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 17531183 17531183 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1733 p.A578V 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 25 0 0 9 13 59.0909 KCNC1 0 genome.wustl.edu 37 11 17758047 17758047 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 17758047 17758047 C T SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known silent c.498 p.G166 0.999 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 19 0 0 17 8 32 HPS5 0 genome.wustl.edu 37 11 18316699 18316699 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 18316699 18316699 C T SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.1652 p.R551H 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 46 0 0 25 13 34.2105 NAV2 0 genome.wustl.edu 37 11 19735499 19735499 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 19735499 19735499 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.258 p.F86 0.999 superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 37 0 0 32 15 31.9149 NAV2 0 genome.wustl.edu 37 11 20112544 20112544 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 20112544 20112544 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known nonsense c.5809 p.E1937* 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 61 0 0 51 6 10.5263 NELL1 0 genome.wustl.edu 37 11 20940856 20940856 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 20940856 20940856 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.735 p.E245 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 67 0 0 40 10 20 BBOX1 0 genome.wustl.edu 37 11 27148884 27148884 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 27148884 27148884 C T SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.1048 p.R350C 0.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 64 0 0 31 24 43.6364 KIF18A 0 genome.wustl.edu 37 11 28058201 28058201 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 28058201 28058201 T C SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known silent c.1959 p.S653 0.995 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 17 0 0 17 4 19.0476 NAP1L4 0 genome.wustl.edu 37 11 2997297 2997297 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 2997297 2997297 G A SNP NAP1L4 ENST00000380542 human ensembl 74_37 -1 known nonsense c.130 p.R44* 0.996 NULL pfam_NAP_family - no_errors NAP1L4 HGNC ENSG00000205531 55 0 0 37 13 26 ELP4 0 genome.wustl.edu 37 11 31653829 31653829 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 31653829 31653829 T C SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known silent c.804 p.D268 0.985 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 56 0 0 56 7 11.1111 ZNF195 0 genome.wustl.edu 37 11 3380735 3380735 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 3380735 3380735 G A SNP ZNF195 ENST00000399602 human ensembl 74_37 -1 known silent c.1503 p.N501 0.085 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 ZNF195 HGNC ENSG00000005801 123 0 0 67 25 27.1739 LMO2 0 genome.wustl.edu 37 11 33881009 33881009 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 33881009 33881009 C T SNP LMO2 ENST00000257818 human ensembl 74_37 -1 known missense c.577 p.A193T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO2 HGNC ENSG00000135363 57 0 0 42 15 26.3158 ABTB2 0 genome.wustl.edu 37 11 34378361 34378361 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 34378361 34378361 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.770 p.A257V 0.362 superfamily_Histone-fold pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 18 0 0 13 7 35 TRIM44 0 genome.wustl.edu 37 11 35684866 35684866 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 35684866 35684866 G A SNP TRIM44 ENST00000299413 human ensembl 74_37 +1 known silent c.207 p.P69 0.002 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM44 HGNC ENSG00000166326 62 0 0 51 18 26.087 LDLRAD3 0 genome.wustl.edu 37 11 36119923 36119923 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 36119923 36119923 C T SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known silent c.366 p.N122 0.990 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 68 0 0 48 17 26.1538 NUP98 0 genome.wustl.edu 37 11 3723954 3723954 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 3723954 3723954 G A SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.3251 p.A1084V 0.999 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 59 0 0 49 28 36.3636 ACCSL 0 genome.wustl.edu 37 11 44069803 44069803 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 44069803 44069803 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.217 p.R73C 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 145 0 0 118 36 23.3766 ALX4 0 genome.wustl.edu 37 11 44296994 44296994 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 44296994 44296994 C A SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.681 p.E227D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 255 0 0 153 49 24.2574 TRIM68 0 genome.wustl.edu 37 11 4621678 4621678 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 4621678 4621678 T C SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.1286 p.Y429C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 101 0 0 65 26 28.5714 AMBRA1 0 genome.wustl.edu 37 11 46563764 46563764 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 46563764 46563764 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.1803 p.Q601H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 47 0 0 33 9 21.4286 ARHGAP1 0 genome.wustl.edu 37 11 46717590 46717590 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 46717590 46717590 A G SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known missense c.68 p.L23P 1.000 NULL pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 39 0 0 34 12 26.087 NR1H3 0 genome.wustl.edu 37 11 47289880 47289880 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 47289880 47289880 G A SNP NR1H3 ENST00000441012 human ensembl 74_37 +1 known missense c.1171 p.A391T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 51 0 0 26 10 27.7778 MADD 0 genome.wustl.edu 37 11 47345868 47345868 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 47345868 47345868 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.4595 p.R1532Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 58 0 0 58 7 10.7692 MYBPC3 0 genome.wustl.edu 37 11 47372970 47372970 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 47372970 47372970 C A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.112 p.V38L 0.100 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-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 MYBPC3 HGNC ENSG00000134571 33 0 0 17 4 19.0476 KBTBD4 0 genome.wustl.edu 37 11 47599055 47599055 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 47599055 47599055 G T SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known missense c.545 p.A182D 1.000 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 180 0 0 144 11 7.09677 AGBL2 0 genome.wustl.edu 37 11 47711857 47711857 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 47711857 47711857 C A SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.1402 p.G468C 0.967 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 136 0 0 137 8 5.51724 OR51F1 0 genome.wustl.edu 37 11 4790421 4790421 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 4790421 4790421 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.748 p.C250R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 113 0 0 100 12 10.7143 PTPRJ 0 genome.wustl.edu 37 11 48146561 48146561 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 48146561 48146561 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.916 p.A306T 0.000 smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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 PTPRJ HGNC ENSG00000149177 273 0 0 230 25 9.80392 PTPRJ 0 genome.wustl.edu 37 11 48149417 48149417 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 48149417 48149417 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.1179 p.S393 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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 PTPRJ HGNC ENSG00000149177 156 0 0 93 39 29.5455 OR51S1 0 genome.wustl.edu 37 11 4870217 4870217 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 4870217 4870217 A G SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known silent c.222 p.L74 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 103 0 0 97 17 14.9123 OR51G2 0 genome.wustl.edu 37 11 4936509 4936509 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 4936509 4936509 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.385 p.V129M 0.563 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G2 HGNC ENSG00000176893 59 0 0 41 15 26.7857 UBQLN3 0 genome.wustl.edu 37 11 5529133 5529133 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 5529133 5529133 C T SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1656 p.T552 0.125 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 68 0 0 47 12 20.339 OR4S2 0 genome.wustl.edu 37 11 55419151 55419151 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 55419151 55419151 C T SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.772 p.R258C 0.896 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 86 0 0 27 29 51.7857 TRIM51 0 genome.wustl.edu 37 11 55653110 55653110 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 55653110 55653110 G T SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.206 p.C69F 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 37 0 0 16 4 20 OR5M1 0 genome.wustl.edu 37 11 56380328 56380328 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 56380328 56380328 G T SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known silent c.651 p.S217 0.850 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 63 0 0 62 6 8.82353 TRIM5 0 genome.wustl.edu 37 11 5686481 5686481 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 5686481 5686481 C T SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known missense c.1040 p.G347D 0.128 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 91 0 0 95 5 5 TNKS1BP1 0 genome.wustl.edu 37 11 57069612 57069612 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 57069612 57069612 A G SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known silent c.4770 p.P1590 0.254 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 136 0 0 90 41 31.2977 SSRP1 0 genome.wustl.edu 37 11 57099955 57099955 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 57099955 57099955 G A SNP SSRP1 ENST00000278412 human ensembl 74_37 -1 known silent c.774 p.S258 1.000 pfam_SSRP1_dom,prints_SSrcognition pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 150 0 0 93 10 9.70874 SLC43A3 0 genome.wustl.edu 37 11 57177481 57177481 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 57177481 57177481 A G SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known missense c.1174 p.Y392H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 36 0 0 24 14 36.8421 SERPING1 0 genome.wustl.edu 37 11 57367766 57367766 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 57367766 57367766 G A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.466 p.A156T 0.905 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 126 0 0 113 34 23.1293 GLYATL1P2 0 genome.wustl.edu 37 11 58660275 58660275 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 58660275 58660275 A G SNP GLYATL1P2 ENST00000529451 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GLYATL1P2 HGNC ENSG00000254717 28 0 0 13 4 23.5294 DTX4 0 genome.wustl.edu 37 11 58972170 58972170 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 58972170 58972170 G C SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.1648 p.A550P 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 29 0 0 17 4 19.0476 MPEG1 0 genome.wustl.edu 37 11 58978606 58978606 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 58978606 58978606 A G SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1733 p.V578A 1.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 125 0 0 103 47 31.3333 OR4D9 0 genome.wustl.edu 37 11 59283285 59283285 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 59283285 59283285 A G SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known silent c.900 p.K300 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 78 0 0 65 20 23.5294 TCN1 0 genome.wustl.edu 37 11 59622168 59622168 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 59622168 59622168 T C SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known missense c.1078 p.S360G 0.311 NULL pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 72 0 0 51 19 27.1429 MS4A14 0 genome.wustl.edu 37 11 60167907 60167907 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 60167907 60167907 G A SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.298 p.D100N 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 20 0 0 16 9 36 PHRF1 0 genome.wustl.edu 37 11 607394 607394 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 607394 607394 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.1938 p.A646 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 153 0 0 90 46 33.8235 VWCE 0 genome.wustl.edu 37 11 61040743 61040743 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 61040743 61040743 A G SNP VWCE ENST00000335613 human ensembl 74_37 -1 known missense c.1627 p.C543R 0.983 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 59 0 0 42 7 14.2857 DDB1 0 genome.wustl.edu 37 11 61089821 61089821 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 61089821 61089821 C A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known nonsense c.1069 p.G357* 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 98 0 0 98 8 7.54717 DAK 0 genome.wustl.edu 37 11 61113929 61113929 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 61113929 61113929 C T SNP DAK ENST00000394900 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 173 0 0 177 19 9.69388 DAGLA 0 genome.wustl.edu 37 11 61504705 61504705 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 61504705 61504705 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1423 p.A475T 0.998 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 288 0 0 174 63 26.5823 INCENP 0 genome.wustl.edu 37 11 61916008 61916008 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 61916008 61916008 G T SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.2265 p.L755 1.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 24 0 0 21 4 16 TUT1 0 genome.wustl.edu 37 11 62342782 62342782 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 62342782 62342782 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known nonsense c.2523 p.W841* 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 154 0 0 145 8 5.22876 GANAB 0 genome.wustl.edu 37 11 62396391 62396391 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 62396391 62396391 G A SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.2096 p.A699V 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 221 0 0 153 50 24.6305 CNGA4 0 genome.wustl.edu 37 11 6261425 6261425 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6261425 6261425 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.401 p.P134L 0.939 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 221 0 0 154 72 31.8584 CCKBR 0 genome.wustl.edu 37 11 6292700 6292700 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6292700 6292700 A G SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1478 p.D493G 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 79 0 0 51 23 31.0811 MARK2 0 genome.wustl.edu 37 11 63670157 63670157 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 63670157 63670157 A G SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.1319 p.D440G 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 46 0 0 20 6 23.0769 DRD4 0 genome.wustl.edu 37 11 639920 639920 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 639920 639920 T C SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.671 p.V224A 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 24 0 0 33 8 19.5122 APBB1 0 genome.wustl.edu 37 11 6432422 6432422 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6432422 6432422 G A SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.156 p.S52 0.791 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 184 0 0 128 63 32.9843 SLC22A12 0 genome.wustl.edu 37 11 64368251 64368251 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64368251 64368251 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.1439 p.A480V 0.765 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 115 0 0 60 23 27.7108 NRXN2 0 genome.wustl.edu 37 11 64419024 64419024 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64419024 64419024 A G SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2621 p.V874A 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 37 0 0 23 12 34.2857 NRXN2 0 genome.wustl.edu 37 11 64428422 64428422 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64428422 64428422 A G SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1988 p.I663T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 43 0 0 31 15 32.6087 NRXN2 0 genome.wustl.edu 37 11 64480999 64480999 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64480999 64480999 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.173 p.R58H 0.987 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 12 0 0 8 4 33.3333 PYGM 0 genome.wustl.edu 37 11 64518009 64518009 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64518009 64518009 A G SNP PYGM ENST00000164139 human ensembl 74_37 -1 known silent c.2016 p.T672 0.003 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 78 0 0 53 28 34.5679 PYGM 0 genome.wustl.edu 37 11 64518013 64518013 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64518013 64518013 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.2012 p.G671D 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 72 0 0 73 6 7.59494 SF1 0 genome.wustl.edu 37 11 64536983 64536983 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64536983 64536983 C T SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.578 p.G193D 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 221 0 0 157 55 25.9434 MAP4K2 0 genome.wustl.edu 37 11 64567831 64567831 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64567831 64567831 G T SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known silent c.759 p.A253 0.916 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 134 0 0 102 10 8.92857 ATG2A 0 genome.wustl.edu 37 11 64662838 64662838 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64662838 64662838 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.5510 p.A1837V 0.004 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 43 0 0 37 3 7.5 ATG2A 0 genome.wustl.edu 37 11 64669448 64669448 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64669448 64669448 C T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.4111 p.G1371S 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 101 0 0 66 12 15.3846 PPP2R5B 0 genome.wustl.edu 37 11 64697972 64697972 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64697972 64697972 C T SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known silent c.802 p.L268 0.991 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 87 0 0 65 23 26.1364 C11orf85 0 genome.wustl.edu 37 11 64717891 64717891 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64717891 64717891 G A SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known silent c.159 p.R53 0.737 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 39 0 0 19 9 32.1429 SNX15 0 genome.wustl.edu 37 11 64806048 64806048 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64806048 64806048 C T SNP SNX15 ENST00000377244 human ensembl 74_37 +1 known silent c.669 p.G223 0.000 NULL pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC ENSG00000110025 40 0 0 25 13 34.2105 SAC3D1 0 genome.wustl.edu 37 11 64812122 64812122 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64812122 64812122 C T SNP SAC3D1 ENST00000398846 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors SAC3D1 HGNC ENSG00000168061 69 0 0 78 9 10.3448 MALAT1 0 genome.wustl.edu 37 11 65273498 65273498 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65273498 65273498 G T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors MALAT1 HGNC ENSG00000251562 48 0 0 53 3 5.35714 MAP3K11 0 genome.wustl.edu 37 11 65374866 65374866 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65374866 65374866 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.1364 p.R455H 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 8 0 0 7 3 30 DNHD1 0 genome.wustl.edu 37 11 6540866 6540866 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6540866 6540866 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known nonsense c.1429 p.Q477* 1.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 134 0 0 108 30 21.7391 EFEMP2 0 genome.wustl.edu 37 11 65638739 65638739 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65638739 65638739 C T SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.256 p.A86T 0.948 smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 190 0 0 134 59 30.5699 CTSW 0 genome.wustl.edu 37 11 65651024 65651024 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65651024 65651024 A G SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.1066 p.K356E 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 189 0 0 176 10 5.37634 CATSPER1 0 genome.wustl.edu 37 11 65787662 65787662 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65787662 65787662 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.2074 p.R692W 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 108 0 0 74 11 12.9412 CATSPER1 0 genome.wustl.edu 37 11 65793450 65793450 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65793450 65793450 C A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known missense c.401 p.G134V 0.001 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 55 0 0 48 30 38.4615 DCHS1 0 genome.wustl.edu 37 11 6646079 6646079 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6646079 6646079 T G SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.7167 p.T2389 0.099 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 38 0 0 28 12 30 SPTBN2 0 genome.wustl.edu 37 11 66468267 66468267 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 66468267 66468267 C A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.3303 p.E1101D 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 42 0 0 22 11 33.3333 PC 0 genome.wustl.edu 37 11 66616719 66616719 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 66616719 66616719 C A SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.3270 p.K1090N 1.000 pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 104 0 0 59 28 32.1839 SYT12 0 genome.wustl.edu 37 11 66813344 66813344 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 66813344 66813344 T A SNP SYT12 ENST00000393946 human ensembl 74_37 +1 known missense c.1088 p.L363H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT12 HGNC ENSG00000173227 78 0 0 58 8 12.1212 TMEM134 0 genome.wustl.edu 37 11 67234859 67234859 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67234859 67234859 G A SNP TMEM134 ENST00000540133 human ensembl 74_37 -1 known missense c.341 p.A114V 1.000 NULL NULL - no_errors TMEM134 HGNC ENSG00000172663 62 0 0 52 20 27.7778 PITPNM1 0 genome.wustl.edu 37 11 67259513 67259513 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67259513 67259513 G A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.3726 p.S1242 0.502 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 97 0 0 52 27 34.1772 PITPNM1 0 genome.wustl.edu 37 11 67269502 67269502 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67269502 67269502 C A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.471 p.E157D 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 54 0 0 39 10 20.4082 NDUFV1 0 genome.wustl.edu 37 11 67379644 67379644 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67379644 67379644 C T SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known missense c.1216 p.P406S 0.976 pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 264 0 0 175 72 29.1498 NDUFS8 0 genome.wustl.edu 37 11 67799757 67799757 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67799757 67799757 T C SNP NDUFS8 ENST00000531228 human ensembl 74_37 +1 known missense c.118 p.S40P 0.001 NULL NULL - no_errors NDUFS8 HGNC ENSG00000110717 103 0 0 69 39 36.1111 SUV420H1 0 genome.wustl.edu 37 11 67926058 67926058 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67926058 67926058 C T SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known silent c.1755 p.L585 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 108 0 0 61 28 31.4607 LRP5 0 genome.wustl.edu 37 11 68154036 68154036 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 68154036 68154036 T C SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.1268 p.V423A 0.995 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 101 0 0 64 24 27.2727 LRP5 0 genome.wustl.edu 37 11 68197119 68197119 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 68197119 68197119 C A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known nonsense c.3714 p.C1238* 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 113 0 0 88 5 5.37634 IGHMBP2 0 genome.wustl.edu 37 11 68703985 68703985 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 68703985 68703985 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.2037 p.R679 0.000 NULL pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 78 0 0 49 20 28.9855 MRGPRF 0 genome.wustl.edu 37 11 68773591 68773591 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 68773591 68773591 C T SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.187 p.G63R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 26 0 0 34 3 8.10811 OR10A4 0 genome.wustl.edu 37 11 6898661 6898661 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6898661 6898661 C T SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known silent c.783 p.F261 0.891 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 119 0 0 86 8 8.51064 SHANK2 0 genome.wustl.edu 37 11 70319223 70319223 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 70319223 70319223 C T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.5304 p.S1768 0.764 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 135 0 0 81 28 25.6881 NLRP14 0 genome.wustl.edu 37 11 7064015 7064015 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 7064015 7064015 G A SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.758 p.S253N 0.110 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 126 0 0 132 7 5.03597 NLRP14 0 genome.wustl.edu 37 11 7079548 7079548 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 7079548 7079548 T C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.2500 p.Y834H 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP14 HGNC ENSG00000158077 56 0 0 40 12 23.0769 KRTAP5-11 0 genome.wustl.edu 37 11 71293852 71293852 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 71293852 71293852 C T SNP KRTAP5-11 ENST00000398530 human ensembl 74_37 -1 known missense c.32 p.G11D 0.724 NULL NULL - no_errors KRTAP5-11 HGNC ENSG00000204571 150 0 0 114 13 10.2362 NUMA1 0 genome.wustl.edu 37 11 71715028 71715028 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 71715028 71715028 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.6241 p.R2081C 0.988 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 88 0 0 64 22 25.5814 NUMA1 0 genome.wustl.edu 37 11 71724872 71724872 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 71724872 71724872 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.3677 p.L1226P 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 144 0 0 106 13 10.9244 NUMA1 0 genome.wustl.edu 37 11 71725797 71725797 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 71725797 71725797 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.2752 p.R918C 0.002 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 103 0 0 47 28 37.3333 NUMA1 0 genome.wustl.edu 37 11 71732293 71732293 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 71732293 71732293 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.417 p.D139 0.992 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 42 0 0 34 17 33.3333 P2RY6 0 genome.wustl.edu 37 11 73008546 73008546 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 73008546 73008546 G T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.983 p.R328L 0.040 prints_P2Y3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 71 0 0 37 14 27.451 UCP3 0 genome.wustl.edu 37 11 73717247 73717247 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 73717247 73717247 C T SNP UCP3 ENST00000314032 human ensembl 74_37 -1 known missense c.304 p.V102I 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 44 0 0 28 17 37.7778 C2CD3 0 genome.wustl.edu 37 11 73760478 73760478 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 73760478 73760478 C A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.5265 p.Q1755H 0.878 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 50 0 0 39 4 9.30233 C2CD3 0 genome.wustl.edu 37 11 73834038 73834038 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 73834038 73834038 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1360 p.A454T 0.890 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 47 0 0 32 14 30.4348 PPME1 0 genome.wustl.edu 37 11 73933379 73933379 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 73933379 73933379 A G SNP PPME1 ENST00000328257 human ensembl 74_37 +1 known missense c.311 p.Q104R 1.000 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC ENSG00000214517 55 0 0 35 13 27.0833 GDPD5 0 genome.wustl.edu 37 11 75161000 75161000 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 75161000 75161000 G A SNP GDPD5 ENST00000336898 human ensembl 74_37 -1 known missense c.404 p.T135M 0.994 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 55 0 0 38 13 25.4902 MYO7A 0 genome.wustl.edu 37 11 76867932 76867932 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 76867932 76867932 G A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.617 p.R206H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 96 0 0 74 7 8.64198 KCTD14 0 genome.wustl.edu 37 11 77727916 77727916 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 77727916 77727916 C T SNP KCTD14 ENST00000353172 human ensembl 74_37 -1 known missense c.491 p.R164Q 0.900 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 166 0 0 89 34 27.6423 KCTD21 0 genome.wustl.edu 37 11 77885356 77885356 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 77885356 77885356 C A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.245 p.R82M 0.954 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 49 0 0 43 20 31.746 OR5P2 0 genome.wustl.edu 37 11 7817567 7817567 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 7817567 7817567 T C SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known missense c.923 p.H308R 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 104 0 0 65 21 24.4186 TENM4 0 genome.wustl.edu 37 11 78423525 78423525 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 78423525 78423525 A G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known splice_site c.4054+2 e22+2 1.000 - - - no_errors TENM4 HGNC ENSG00000149256 82 0 0 86 8 8.51064 NLRP10 0 genome.wustl.edu 37 11 7982743 7982743 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 7982743 7982743 G A SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.416 p.A139V 0.074 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 84 0 0 79 5 5.95238 PIDD 0 genome.wustl.edu 37 11 800161 800161 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 800161 800161 C T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known silent c.2244 p.L748 0.983 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 26 0 0 17 9 34.6154 GRM5 0 genome.wustl.edu 37 11 88323855 88323855 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 88323855 88323855 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1604 p.T535I 1.000 pfam_GPCR_3_9-Cys_dom 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 58 0 0 57 7 10.9375 FAT3 0 genome.wustl.edu 37 11 92087421 92087421 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 92087421 92087421 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2143 p.F715V 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 134 1 0.740741 108 11 9.2437 FAT3 0 genome.wustl.edu 37 11 92087601 92087601 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 92087601 92087601 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2323 p.N775D 0.693 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 102 0 0 74 29 28.1553 TAF1D 0 genome.wustl.edu 37 11 93469190 93469190 + RNA SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 93469190 93469190 A T SNP TAF1D ENST00000530089 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAF1D HGNC ENSG00000166012 11 0 0 2 2 50 C11orf54 0 genome.wustl.edu 37 11 93494790 93494790 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 93494790 93494790 T C SNP C11orf54 ENST00000331239 human ensembl 74_37 +1 known missense c.884 p.L295S 0.927 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 70 0 0 37 17 31.4815 AMOTL1 0 genome.wustl.edu 37 11 94564661 94564661 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 94564661 94564661 C T SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.1602 p.Y534 0.654 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 106 0 0 70 28 28.5714 MAML2 0 genome.wustl.edu 37 11 95724791 95724791 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 95724791 95724791 G A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known nonsense c.2236 p.Q746* 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 89 0 0 73 6 7.59494 ANKS1B 0 genome.wustl.edu 37 12 100200245 100200245 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 100200245 100200245 C T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known silent c.606 p.A202 0.003 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 50 0 0 39 20 33.8983 GOLGA2P5 0 genome.wustl.edu 37 12 100560312 100560312 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 100560312 100560312 C A SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 48 0 0 25 9 26.4706 GOLGA2P5 0 genome.wustl.edu 37 12 100560340 100560340 + RNA SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 100560340 100560340 C G SNP GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.181 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 31 0 0 17 6 26.087 SLC17A8 0 genome.wustl.edu 37 12 100790120 100790120 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 100790120 100790120 C A SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known missense c.601 p.P201T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 60 0 0 51 4 7.27273 DRAM1 0 genome.wustl.edu 37 12 102295099 102295099 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 102295099 102295099 T C SNP DRAM1 ENST00000258534 human ensembl 74_37 +1 known missense c.230 p.I77T 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 48 0 0 45 12 21.0526 PARPBP 0 genome.wustl.edu 37 12 102559514 102559514 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 102559514 102559514 C T SNP PARPBP ENST00000358383 human ensembl 74_37 +1 known missense c.674 p.T225M 0.994 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors PARPBP HGNC ENSG00000185480 84 0 0 64 18 21.9512 TDG 0 genome.wustl.edu 37 12 104376689 104376689 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 104376689 104376689 G A SNP TDG ENST00000542036 human ensembl 74_37 +1 known missense c.62 p.R21H 0.797 superfamily_Uracil-DNA_glycosylase-like superfamily_Uracil-DNA_glycosylase-like - no_errors TDG HGNC ENSG00000139372 100 0 0 83 26 23.8532 POLR3B 0 genome.wustl.edu 37 12 106857280 106857280 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 106857280 106857280 T C SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known silent c.2595 p.Y865 0.945 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 39 0 0 31 15 32.6087 BTBD11 0 genome.wustl.edu 37 12 107712894 107712894 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 107712894 107712894 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.177 p.M59I 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 21 0 0 17 5 22.7273 PWP1 0 genome.wustl.edu 37 12 108105908 108105908 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 108105908 108105908 C T SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known nonsense c.1417 p.R473* 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 108 0 0 99 7 6.60377 SELPLG 0 genome.wustl.edu 37 12 109017765 109017765 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 109017765 109017765 C T SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.319 p.A107T 0.044 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 95 0 0 67 22 24.7191 CORO1C 0 genome.wustl.edu 37 12 109095026 109095026 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 109095026 109095026 G A SNP CORO1C ENST00000420959 human ensembl 74_37 -1 known silent c.228 p.C76 1.000 pfam_DUF1899 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 89 0 0 66 31 31.9588 SSH1 0 genome.wustl.edu 37 12 109181948 109181948 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 109181948 109181948 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.2966 p.T989M 0.944 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 248 0 0 265 14 5.01792 ACACB 0 genome.wustl.edu 37 12 109675153 109675153 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 109675153 109675153 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.4630 p.A1544T 0.999 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 56 0 0 28 16 36.3636 FAM222A 0 genome.wustl.edu 37 12 110206381 110206381 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 110206381 110206381 C T SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known missense c.647 p.A216V 0.955 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 55 0 0 31 11 26.1905 CUX2 0 genome.wustl.edu 37 12 111748391 111748391 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 111748391 111748391 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.1805 p.T602M 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 102 1 0.970874 104 6 5.45455 BRAP 0 genome.wustl.edu 37 12 112110576 112110576 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 112110576 112110576 A G SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.636 p.A212 0.996 pfam_BRAP2 pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 41 0 0 42 4 8.69565 BRAP 0 genome.wustl.edu 37 12 112119464 112119464 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 112119464 112119464 A G SNP BRAP ENST00000419234 human ensembl 74_37 -1 known silent c.420 p.G140 0.971 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 60 0 0 61 26 29.8851 ACAD10 0 genome.wustl.edu 37 12 112184870 112184870 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 112184870 112184870 G A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known silent c.2367 p.A789 0.284 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 52 0 0 44 20 31.25 HECTD4 0 genome.wustl.edu 37 12 112638517 112638517 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 112638517 112638517 C A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.7976 p.R2659M 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 70 0 0 72 5 6.49351 OAS3 0 genome.wustl.edu 37 12 113388691 113388691 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 113388691 113388691 A G SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.1568 p.N523S 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 57 0 0 72 4 5.26316 DTX1 0 genome.wustl.edu 37 12 113515249 113515249 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 113515249 113515249 C T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.280 p.R94C 0.998 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 100 0 0 49 25 33.7838 DTX1 0 genome.wustl.edu 37 12 113515369 113515369 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 113515369 113515369 G A SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.400 p.E134K 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 88 0 0 53 35 39.7727 PRB1 0 genome.wustl.edu 37 12 11506748 11506748 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 11506748 11506748 G C SNP PRB1 ENST00000500254 human ensembl 74_37 -1 known missense c.289 p.P97A 0.003 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 677 0 0 557 35 5.91216 KSR2 0 genome.wustl.edu 37 12 117962864 117962864 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 117962864 117962864 A G SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2012 p.L671P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 64 0 0 43 13 23.2143 SRRM4 0 genome.wustl.edu 37 12 119588945 119588945 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 119588945 119588945 C A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known silent c.1200 p.S400 0.996 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 95 0 0 53 49 48.0392 SRRM4 0 genome.wustl.edu 37 12 119594401 119594401 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 119594401 119594401 C G SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1634 p.A545G 0.877 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 45 0 0 17 10 37.037 GCN1L1 0 genome.wustl.edu 37 12 120568996 120568996 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 120568996 120568996 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.7556 p.A2519V 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 111 0 0 52 27 34.1772 GCN1L1 0 genome.wustl.edu 37 12 120582845 120582845 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 120582845 120582845 C A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.5037 p.K1679N 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 117 0 0 110 7 5.98291 CABP1 0 genome.wustl.edu 37 12 121093866 121093866 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 121093866 121093866 T C SNP CABP1 ENST00000453000 human ensembl 74_37 +1 putative missense c.253 p.S85P 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 30 0 0 35 4 10.2564 KDM2B 0 genome.wustl.edu 37 12 121890960 121890960 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 121890960 121890960 C T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.1922 p.R641H 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 44 0 0 29 13 30.9524 TMEM120B 0 genome.wustl.edu 37 12 122181540 122181540 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 122181540 122181540 G A SNP TMEM120B ENST00000342607 human ensembl 74_37 +1 known silent c.75 p.T25 0.001 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 151 1 0.657895 107 13 10.8333 KNTC1 0 genome.wustl.edu 37 12 123067402 123067402 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 123067402 123067402 A G SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.3133 p.S1045G 0.002 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 23 0 0 28 7 20 RILPL1 0 genome.wustl.edu 37 12 123970350 123970350 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 123970350 123970350 C T SNP RILPL1 ENST00000376874 human ensembl 74_37 -1 known silent c.804 p.T268 0.005 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 33 0 0 23 13 36.1111 CCDC92 0 genome.wustl.edu 37 12 124421644 124421644 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 124421644 124421644 C A SNP CCDC92 ENST00000238156 human ensembl 74_37 -1 known missense c.957 p.K319N 0.977 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 87 0 0 85 6 6.59341 NCOR2 0 genome.wustl.edu 37 12 124824929 124824929 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 124824929 124824929 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.5420 p.R1807Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 71 0 0 57 6 9.52381 NCOR2 0 genome.wustl.edu 37 12 124826546 124826546 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 124826546 124826546 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.5032 p.R1678C 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 85 0 0 69 31 31 DHX37 0 genome.wustl.edu 37 12 125460030 125460030 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 125460030 125460030 C T SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known silent c.915 p.E305 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 101 0 0 68 36 34.6154 TMEM132B 0 genome.wustl.edu 37 12 125900199 125900199 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 125900199 125900199 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.1067 p.G356D 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 79 0 0 70 10 12.5 RIMBP2 0 genome.wustl.edu 37 12 130892273 130892273 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 130892273 130892273 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2923 p.E975K 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 386 0 0 208 93 30.897 ULK1 0 genome.wustl.edu 37 12 132399917 132399917 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 132399917 132399917 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.1560 p.T520 0.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 56 0 0 47 12 20.339 EP400 0 genome.wustl.edu 37 12 132505681 132505681 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 132505681 132505681 C A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.4613 p.P1538H 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 82 0 0 71 4 5.33333 EP400 0 genome.wustl.edu 37 12 132534944 132534944 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 132534944 132534944 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.7385 p.T2462M 0.967 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 104 0 0 59 16 21.3333 EP400NL 0 genome.wustl.edu 37 12 132603448 132603448 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 132603448 132603448 G A SNP EP400NL ENST00000475841 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EP400NL HGNC ENSG00000185684 29 0 0 8 7 46.6667 NOC4L 0 genome.wustl.edu 37 12 132635801 132635801 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 132635801 132635801 A G SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known splice_site c.963-2 e11-2 1.000 - - - no_errors NOC4L HGNC ENSG00000184967 154 0 0 100 7 6.54206 POLE 0 genome.wustl.edu 37 12 133201397 133201397 + Splice_Site SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 133201397 133201397 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known splice_site c.6748-1 e49-1 1.000 - - - no_errors POLE HGNC ENSG00000177084 59 0 0 71 4 5.33333 POLE 0 genome.wustl.edu 37 12 133210851 133210851 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 133210851 133210851 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.5925 p.L1975 0.424 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 93 0 0 74 35 32.1101 POLE 0 genome.wustl.edu 37 12 133214684 133214684 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 133214684 133214684 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.5594 p.Y1865C 1.000 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 87 0 0 83 6 6.74157 ERC1 0 genome.wustl.edu 37 12 1346032 1346032 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 1346032 1346032 C T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.2449 p.R817W 0.984 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 39 0 0 53 13 19.697 ATF7IP 0 genome.wustl.edu 37 12 14650664 14650664 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 14650664 14650664 G A SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.3470 p.S1157N 1.000 pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 80 0 0 52 19 26.7606 MGST1 0 genome.wustl.edu 37 12 16516816 16516816 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 16516816 16516816 C A SNP MGST1 ENST00000010404 human ensembl 74_37 +1 known silent c.309 p.A103 0.326 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST1 HGNC ENSG00000008394 110 0 0 119 7 5.55556 ADIPOR2 0 genome.wustl.edu 37 12 1863497 1863497 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 1863497 1863497 G A SNP ADIPOR2 ENST00000537545 human ensembl 74_37 +1 known rna NULL NULL 0.712 - - - no_errors ADIPOR2 HGNC ENSG00000006831 128 0 0 127 52 29.0503 PLEKHA5 0 genome.wustl.edu 37 12 19459733 19459733 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 19459733 19459733 T C SNP PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.903 - - - no_errors PLEKHA5 HGNC ENSG00000052126 45 0 0 28 9 24.3243 PLEKHA5 0 genome.wustl.edu 37 12 19459786 19459786 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 19459786 19459786 T C SNP PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PLEKHA5 HGNC ENSG00000052126 48 0 0 43 10 18.8679 PDE3A 0 genome.wustl.edu 37 12 20799536 20799536 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 20799536 20799536 A G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.2364 p.S788 0.999 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 49 0 0 41 24 36.9231 DCP1B 0 genome.wustl.edu 37 12 2113468 2113468 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 2113468 2113468 C A SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.130 p.G44C 1.000 pfam_DCP1 pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 38 0 0 36 11 23.4043 RASSF8 0 genome.wustl.edu 37 12 26217573 26217573 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 26217573 26217573 G A SNP RASSF8 ENST00000282884 human ensembl 74_37 +1 known silent c.246 p.P82 0.272 smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC ENSG00000123094 133 0 0 149 9 5.6962 KLHL42 0 genome.wustl.edu 37 12 27950897 27950897 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 27950897 27950897 G C SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known missense c.1316 p.G439A 1.000 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 48 0 0 57 4 6.55738 CACNA1C 0 genome.wustl.edu 37 12 2797864 2797864 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 2797864 2797864 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.6249 p.R2083 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 43 0 0 44 3 6.38298 CCDC91 0 genome.wustl.edu 37 12 28603172 28603172 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 28603172 28603172 T A SNP CCDC91 ENST00000381259 human ensembl 74_37 +1 known missense c.841 p.S281T 0.954 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 82 0 0 61 8 11.5942 FAR2 0 genome.wustl.edu 37 12 29460683 29460683 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 29460683 29460683 T G SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.638 p.M213R 0.933 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 87 0 0 44 31 41.3333 DDX11 0 genome.wustl.edu 37 12 31250897 31250897 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 31250897 31250897 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.1841 p.R614Q 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 92 0 0 74 8 9.7561 ENSG00000256577 0 genome.wustl.edu 37 12 313880 313880 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 313880 313880 A G SNP ENSG00000256577 ENST00000539568 human ensembl 74_37 +1 known rna NULL NULL 0.274 - - - no_errors RP11-283I3.2 Clone_based_vega_gene ENSG00000256577 52 0 0 43 7 14 H3F3C 0 genome.wustl.edu 37 12 31944762 31944762 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 31944762 31944762 G A SNP H3F3C ENST00000340398 human ensembl 74_37 -1 known silent c.339 p.H113 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3C HGNC ENSG00000188375 113 0 0 102 41 28.6713 FGD4 0 genome.wustl.edu 37 12 32755213 32755213 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 32755213 32755213 C T SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.955 p.R319C 0.979 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 75 0 0 65 16 19.7531 SLC6A13 0 genome.wustl.edu 37 12 344291 344291 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 344291 344291 G T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.796 p.L266M 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 111 0 0 104 24 18.75 ALG10B 0 genome.wustl.edu 37 12 38714328 38714328 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 38714328 38714328 A C SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.735 p.K245N 0.194 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 182 0 0 190 16 7.76699 LRRK2 0 genome.wustl.edu 37 12 40758800 40758800 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 40758800 40758800 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.7338 p.R2446 0.898 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 65 0 0 39 16 29.0909 C12orf5 0 genome.wustl.edu 37 12 4460518 4460518 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 4460518 4460518 C T SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known missense c.356 p.P119L 0.946 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 53 0 0 62 4 6.06061 ARID2 0 genome.wustl.edu 37 12 46230387 46230387 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 46230387 46230387 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.721 p.V241I 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 22 0 0 15 6 28.5714 ARID2 0 genome.wustl.edu 37 12 46240687 46240687 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 46240687 46240687 T C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.1547 p.V516A 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 65 0 0 56 31 35.6322 SLC38A4 0 genome.wustl.edu 37 12 47173760 47173760 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 47173760 47173760 C A SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.547 p.A183S 0.980 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 79 0 0 55 19 25.6757 NDUFA9 0 genome.wustl.edu 37 12 4796210 4796210 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 4796210 4796210 G A SNP NDUFA9 ENST00000266544 human ensembl 74_37 +1 known missense c.1070 p.R357H 1.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 41 0 0 45 8 15.0943 COL2A1 0 genome.wustl.edu 37 12 48369230 48369230 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 48369230 48369230 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.3756 p.D1252 0.349 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 95 0 0 75 25 25 COL2A1 0 genome.wustl.edu 37 12 48372127 48372127 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 48372127 48372127 C A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.2950 p.G984C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 51 0 0 43 12 21.8182 SENP1 0 genome.wustl.edu 37 12 48442868 48442868 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 48442868 48442868 C A SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1455 p.K485N 0.953 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 77 0 0 75 21 21.875 C12orf68 0 genome.wustl.edu 37 12 48578396 48578396 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 48578396 48578396 G A SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known missense c.491 p.C164Y 0.992 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 8 0 0 14 7 33.3333 ADCY6 0 genome.wustl.edu 37 12 49170308 49170308 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49170308 49170308 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1438 p.V480M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 66 0 0 43 21 32.8125 ADCY6 0 genome.wustl.edu 37 12 49171486 49171486 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49171486 49171486 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1048 p.V350I 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 159 0 0 118 46 28.0488 ADCY6 0 genome.wustl.edu 37 12 49176739 49176739 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49176739 49176739 A G SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.479 p.V160A 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 62 0 0 76 5 6.17284 FKBP11 0 genome.wustl.edu 37 12 49319210 49319210 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49319210 49319210 A C SNP FKBP11 ENST00000550765 human ensembl 74_37 -1 known missense c.2 p.M1R 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP11 HGNC ENSG00000134285 13 0 0 8 3 27.2727 DDN 0 genome.wustl.edu 37 12 49391774 49391774 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49391774 49391774 C T SNP DDN ENST00000421952 human ensembl 74_37 -1 known silent c.885 p.G295 0.994 NULL NULL - no_errors DDN HGNC ENSG00000181418 160 0 0 114 19 14.2857 KMT2D 0 genome.wustl.edu 37 12 49426526 49426526 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49426526 49426526 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11962 p.Q3988* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 15 0 0 9 4 30.7692 KMT2D 0 genome.wustl.edu 37 12 49434350 49434350 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49434350 49434350 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.7203 p.R2401 0.864 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 41 0 0 40 12 23.0769 RHEBL1 0 genome.wustl.edu 37 12 49460477 49460477 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49460477 49460477 T C SNP RHEBL1 ENST00000301068 human ensembl 74_37 -1 known missense c.200 p.Y67C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEBL1 HGNC ENSG00000167550 69 0 0 51 6 10.5263 KCNH3 0 genome.wustl.edu 37 12 49937285 49937285 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49937285 49937285 G T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.807 p.E269D 0.984 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 76 0 0 72 20 21.7391 FAM186B 0 genome.wustl.edu 37 12 49981443 49981443 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49981443 49981443 C T SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.2627 p.R876Q 0.986 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 66 0 0 30 19 38.7755 FMNL3 0 genome.wustl.edu 37 12 50045784 50045784 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 50045784 50045784 G A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.1535 p.P512L 0.003 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 23 0 0 16 6 27.2727 METTL7A 0 genome.wustl.edu 37 12 51323923 51323923 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 51323923 51323923 C T SNP METTL7A ENST00000332160 human ensembl 74_37 +1 known missense c.725 p.A242V 0.996 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related - no_errors METTL7A HGNC ENSG00000185432 35 0 0 48 7 12.7273 TFCP2 0 genome.wustl.edu 37 12 51493509 51493509 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 51493509 51493509 C A SNP TFCP2 ENST00000257915 human ensembl 74_37 -1 known missense c.1205 p.R402M 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 75 0 0 64 5 7.24638 GALNT6 0 genome.wustl.edu 37 12 51753071 51753071 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 51753071 51753071 C T SNP GALNT6 ENST00000356317 human ensembl 74_37 -1 known missense c.1213 p.V405I 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 195 0 0 164 43 20.7729 ANKRD33 0 genome.wustl.edu 37 12 52284848 52284848 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 52284848 52284848 A G SNP ANKRD33 ENST00000301190 human ensembl 74_37 +1 novel missense c.1118 p.Y373C 0.705 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 78 0 0 63 6 8.69565 ACVR1B 0 genome.wustl.edu 37 12 52385715 52385715 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 52385715 52385715 C T SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known nonsense c.1330 p.R444* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 130 0 0 127 12 8.63309 KRT85 0 genome.wustl.edu 37 12 52757866 52757866 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 52757866 52757866 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known missense c.772 p.R258C 0.125 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 205 1 0.485437 124 58 31.8681 KRT74 0 genome.wustl.edu 37 12 52962154 52962154 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 52962154 52962154 G A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.1154 p.A385V 0.996 pfam_IF pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 53 0 0 39 10 20.4082 KRT72 0 genome.wustl.edu 37 12 52994933 52994933 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 52994933 52994933 C T SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.304 p.V102I 0.994 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 89 0 0 67 4 5.6338 KRT73 0 genome.wustl.edu 37 12 53012077 53012077 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53012077 53012077 C T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.232 p.A78T 0.882 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 290 1 0.343643 211 45 17.5781 KRT78 0 genome.wustl.edu 37 12 53242666 53242666 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53242666 53242666 C T SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known missense c.49 p.A17T 0.694 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 47 0 0 36 16 30.7692 ESPL1 0 genome.wustl.edu 37 12 53677869 53677869 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53677869 53677869 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.3105 p.G1035 0.243 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 243 0 0 164 67 29.0043 C12orf10 0 genome.wustl.edu 37 12 53693543 53693543 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53693543 53693543 G T SNP C12orf10 ENST00000267103 human ensembl 74_37 +1 novel missense c.22 p.G8C 0.000 NULL pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 55 0 0 26 14 35 CALCOCO1 0 genome.wustl.edu 37 12 54115940 54115940 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 54115940 54115940 G A SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known missense c.478 p.R160W 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 137 0 0 89 46 34.0741 SMUG1 0 genome.wustl.edu 37 12 54576054 54576054 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 54576054 54576054 A G SNP SMUG1 ENST00000337581 human ensembl 74_37 -1 known silent c.639 p.V213 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 117 0 0 81 35 30.1724 TESPA1 0 genome.wustl.edu 37 12 55357525 55357525 + Splice_Site SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 55357525 55357525 C A SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known splice_site c.655+1 e7+1 1.000 - - - no_errors TESPA1 HGNC ENSG00000135426 12 0 0 9 11 55 OR6C68 0 genome.wustl.edu 37 12 55886942 55886942 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 55886942 55886942 T A SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.796 p.S266T 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 46 0 0 56 4 6.66667 ORMDL2 0 genome.wustl.edu 37 12 56214083 56214083 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56214083 56214083 G A SNP ORMDL2 ENST00000243045 human ensembl 74_37 +1 known silent c.366 p.A122 0.989 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL2 HGNC ENSG00000123353 129 0 0 150 8 5.06329 SUOX 0 genome.wustl.edu 37 12 56398444 56398444 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56398444 56398444 C T SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.1271 p.P424L 1.000 pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 64 0 0 63 10 13.6986 ESYT1 0 genome.wustl.edu 37 12 56524639 56524639 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56524639 56524639 C T SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.497 p.A166V 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 113 0 0 82 26 24.0741 PAN2 0 genome.wustl.edu 37 12 56712963 56712963 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56712963 56712963 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known silent c.3285 p.V1095 0.999 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 89 0 0 52 16 23.5294 STAT2 0 genome.wustl.edu 37 12 56743848 56743848 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56743848 56743848 G A SNP STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors STAT2 HGNC ENSG00000170581 56 0 0 45 20 30.7692 STAT2 0 genome.wustl.edu 37 12 56749256 56749256 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56749256 56749256 G A SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.442 p.R148W 0.020 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 347 0 0 202 98 32.6667 PTGES3 0 genome.wustl.edu 37 12 57081781 57081781 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57081781 57081781 C T SNP PTGES3 ENST00000262033 human ensembl 74_37 -1 known splice_site c.2+1 e1+1 1.000 - - - no_errors PTGES3 HGNC ENSG00000110958 47 0 0 43 13 23.2143 MYO1A 0 genome.wustl.edu 37 12 57424885 57424885 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57424885 57424885 G A SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.2423 p.A808V 0.825 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 68 0 0 78 5 6.0241 TMEM194A 0 genome.wustl.edu 37 12 57457008 57457008 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57457008 57457008 T C SNP TMEM194A ENST00000300128 human ensembl 74_37 -1 known missense c.874 p.M292V 1.000 pfam_TMEM194 pfam_TMEM194 - no_errors TMEM194A HGNC ENSG00000166881 143 0 0 86 27 23.8938 LRP1 0 genome.wustl.edu 37 12 57552351 57552351 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57552351 57552351 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.1728 p.A576 0.422 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 63 0 0 69 8 10.3896 LRP1 0 genome.wustl.edu 37 12 57567581 57567581 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57567581 57567581 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.3365 p.A1122V 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 185 0 0 126 30 19.2308 LRP1 0 genome.wustl.edu 37 12 57601925 57601925 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57601925 57601925 G T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.11964 p.K3988N 0.996 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 67 0 0 59 6 9.23077 INHBC 0 genome.wustl.edu 37 12 57843578 57843578 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57843578 57843578 G T SNP INHBC ENST00000309668 human ensembl 74_37 +1 known missense c.832 p.G278W 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 49 0 0 43 7 14 MARS 0 genome.wustl.edu 37 12 57882078 57882078 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57882078 57882078 C A SNP MARS ENST00000548146 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MARS HGNC ENSG00000166986 17 0 0 17 6 26.087 KIF5A 0 genome.wustl.edu 37 12 57963420 57963420 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57963420 57963420 G T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1071 p.K357N 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 66 0 0 54 21 28 ENSG00000224713 0 genome.wustl.edu 37 12 58007442 58007442 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 58007442 58007442 G A SNP ENSG00000224713 ENST00000356672 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC025165.8 Clone_based_vega_gene ENSG00000224713 44 0 0 27 7 20.5882 LRIG3 0 genome.wustl.edu 37 12 59266597 59266597 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 59266597 59266597 A G SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known silent c.3117 p.G1039 0.994 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 81 0 0 63 4 5.97015 VWF 0 genome.wustl.edu 37 12 6062707 6062707 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6062707 6062707 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.7941 p.T2647 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 79 0 0 92 5 5.15464 VWF 0 genome.wustl.edu 37 12 6101135 6101135 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6101135 6101135 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.6648 p.C2216 0.365 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 56 0 0 53 6 10.1695 AVPR1A 0 genome.wustl.edu 37 12 63544102 63544102 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 63544102 63544102 G A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.515 p.A172V 0.963 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 75 0 0 126 10 7.35294 AVPR1A 0 genome.wustl.edu 37 12 63544335 63544335 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 63544335 63544335 G A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known silent c.282 p.S94 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 45 0 0 36 7 16.2791 TBK1 0 genome.wustl.edu 37 12 64883863 64883863 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 64883863 64883863 A G SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known silent c.1485 p.L495 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TBK1 HGNC ENSG00000183735 8 0 0 17 6 26.087 TAPBPL 0 genome.wustl.edu 37 12 6562694 6562694 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6562694 6562694 G A SNP TAPBPL ENST00000266556 human ensembl 74_37 +1 known missense c.377 p.R126H 0.053 NULL pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors TAPBPL HGNC ENSG00000139192 51 0 0 51 11 17.7419 MSRB3 0 genome.wustl.edu 37 12 65672589 65672589 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 65672589 65672589 G A SNP MSRB3 ENST00000355192 human ensembl 74_37 +1 known missense c.41 p.C14Y 0.578 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 10 0 0 8 9 52.9412 NCAPD2 0 genome.wustl.edu 37 12 6623974 6623974 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6623974 6623974 G A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.875 p.R292Q 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 99 0 0 114 29 20.2797 IFFO1 0 genome.wustl.edu 37 12 6650773 6650773 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6650773 6650773 C T SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known silent c.1491 p.R497 0.156 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 136 1 0.729927 98 70 41.6667 GRIP1 0 genome.wustl.edu 37 12 66838474 66838474 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 66838474 66838474 G T SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1577 p.A526D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 70 0 0 35 22 38.5965 PIANP 0 genome.wustl.edu 37 12 6806668 6806668 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6806668 6806668 G T SNP PIANP ENST00000320591 human ensembl 74_37 -1 known missense c.308 p.P103H 1.000 NULL NULL - no_errors PIANP HGNC ENSG00000139200 31 0 0 41 17 29.3103 SLC35E3 0 genome.wustl.edu 37 12 69158493 69158493 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 69158493 69158493 G C SNP SLC35E3 ENST00000398004 human ensembl 74_37 +1 known missense c.765 p.M255I 1.000 pfam_Tpt_PEP_trans_dom,pfam_DMT pfam_Tpt_PEP_trans_dom,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 61 0 0 57 18 24 USP5 0 genome.wustl.edu 37 12 6970249 6970249 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 6970249 6970249 A G SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.1477 p.M493V 1.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 228 0 0 226 61 21.2544 C1S 0 genome.wustl.edu 37 12 7177347 7177347 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 7177347 7177347 G A SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.1459 p.V487I 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 32 0 0 42 21 33.3333 ZFC3H1 0 genome.wustl.edu 37 12 72008708 72008708 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 72008708 72008708 G A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.5266 p.P1756S 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 78 0 0 60 18 23.0769 ZFC3H1 0 genome.wustl.edu 37 12 72026030 72026030 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 72026030 72026030 C A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known nonsense c.3082 p.E1028* 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 149 0 0 98 40 28.9855 C1RL 0 genome.wustl.edu 37 12 7249743 7249743 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 7249743 7249743 G A SNP C1RL ENST00000544702 human ensembl 74_37 -1 putative missense c.755 p.S252L 0.045 NULL pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors C1RL HGNC ENSG00000139178 31 0 0 74 8 9.7561 KCNC2 0 genome.wustl.edu 37 12 75444611 75444611 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 75444611 75444611 C A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known nonsense c.1174 p.G392* 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 54 0 0 52 4 7.14286 KCNC2 0 genome.wustl.edu 37 12 75601144 75601144 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 75601144 75601144 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.620 p.R207H 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 11 0 0 9 4 30.7692 KCNC2 0 genome.wustl.edu 37 12 75601437 75601437 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 75601437 75601437 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.327 p.G109 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 32 0 0 24 5 17.2414 DPPA3 0 genome.wustl.edu 37 12 7867867 7867867 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 7867867 7867867 G A SNP DPPA3 ENST00000345088 human ensembl 74_37 +1 known silent c.171 p.S57 0.002 NULL NULL - no_errors DPPA3 HGNC ENSG00000187569 41 0 0 29 29 50 LIN7A 0 genome.wustl.edu 37 12 81331457 81331457 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 81331457 81331457 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known silent c.45 p.A15 1.000 pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 24 0 0 13 10 43.4783 C3AR1 0 genome.wustl.edu 37 12 8212777 8212777 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 8212777 8212777 G A SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.5 p.A2V 0.553 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 108 0 0 111 28 20.1439 TSPAN19 0 genome.wustl.edu 37 12 85411254 85411254 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 85411254 85411254 A G SNP TSPAN19 ENST00000532498 human ensembl 74_37 -1 known missense c.575 p.L192P 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC ENSG00000231738 19 0 0 16 6 27.2727 C12orf29 0 genome.wustl.edu 37 12 88439400 88439400 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 88439400 88439400 C T SNP C12orf29 ENST00000356891 human ensembl 74_37 +1 known missense c.463 p.H155Y 1.000 NULL NULL - no_errors C12orf29 HGNC ENSG00000133641 21 0 0 18 3 14.2857 CCER1 0 genome.wustl.edu 37 12 91347424 91347424 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 91347424 91347424 A C SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.1096 p.S366A 0.101 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 109 0 0 72 6 7.69231 CCER1 0 genome.wustl.edu 37 12 91348307 91348307 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 91348307 91348307 G A SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.213 p.H71 0.000 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 64 0 0 64 4 5.88235 DCN 0 genome.wustl.edu 37 12 91550888 91550888 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 91550888 91550888 G A SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.616 p.R206C 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 99 0 0 61 14 18.6667 DCN 0 genome.wustl.edu 37 12 91552181 91552181 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 91552181 91552181 A T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.430 p.L144M 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 113 0 0 68 29 29.8969 A2M 0 genome.wustl.edu 37 12 9223124 9223124 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 9223124 9223124 A G SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.4154 p.M1385T 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 38 0 0 38 8 17.3913 HAL 0 genome.wustl.edu 37 12 96380913 96380913 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 96380913 96380913 C T SNP HAL ENST00000261208 human ensembl 74_37 -1 known missense c.983 p.R328Q 0.987 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 102 0 0 73 33 31.1321 ELK3 0 genome.wustl.edu 37 12 96640867 96640867 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 96640867 96640867 C T SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known silent c.357 p.R119 0.047 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 26 0 0 17 11 39.2857 ELK3 0 genome.wustl.edu 37 12 96640914 96640914 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 96640914 96640914 A C SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known missense c.404 p.N135T 0.998 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 28 0 0 31 4 11.4286 CDK17 0 genome.wustl.edu 37 12 96679898 96679898 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 96679898 96679898 A G SNP CDK17 ENST00000261211 human ensembl 74_37 -1 known silent c.1245 p.G415 0.997 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK17 HGNC ENSG00000059758 132 0 0 115 9 7.25806 C12orf55 0 genome.wustl.edu 37 12 97078887 97078887 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 97078887 97078887 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.5885 p.G1962D 0.357 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 37 0 0 29 10 25.641 NEDD1 0 genome.wustl.edu 37 12 97337417 97337417 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 97337417 97337417 T C SNP NEDD1 ENST00000557644 human ensembl 74_37 +1 known silent c.1395 p.H465 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NEDD1 HGNC ENSG00000139350 72 0 0 65 22 25.2874 SLC9A7P1 0 genome.wustl.edu 37 12 98848955 98848955 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 98848955 98848955 C T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.978 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 25 0 0 11 4 26.6667 SLC10A2 0 genome.wustl.edu 37 13 103701701 103701701 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 103701701 103701701 A G SNP SLC10A2 ENST00000245312 human ensembl 74_37 -1 known missense c.857 p.V286A 0.995 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 108 0 0 135 11 7.53425 MYO16 0 genome.wustl.edu 37 13 109496820 109496820 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 109496820 109496820 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.1161 p.S387 0.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 61 0 0 76 4 5 MYO16 0 genome.wustl.edu 37 13 109777701 109777701 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 109777701 109777701 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.3711 p.S1237 0.013 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 68 0 0 76 5 6.17284 IRS2 0 genome.wustl.edu 37 13 110434772 110434772 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 110434772 110434772 G A SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.3629 p.A1210V 0.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 14 0 0 22 4 15.3846 IRS2 0 genome.wustl.edu 37 13 110436686 110436686 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 110436686 110436686 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.1715 p.R572H 0.949 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 34 0 0 30 10 25 ING1 0 genome.wustl.edu 37 13 111367876 111367876 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 111367876 111367876 G A SNP ING1 ENST00000464141 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.007 - - - no_errors ING1 HGNC ENSG00000153487 116 0 0 133 29 17.9012 ATP11A 0 genome.wustl.edu 37 13 113516786 113516786 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 113516786 113516786 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.2888 p.R963H 0.998 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 40 0 0 49 12 19.6721 CUL4A 0 genome.wustl.edu 37 13 113899329 113899329 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 113899329 113899329 C T SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known missense c.1400 p.A467V 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 94 0 0 84 11 11.5789 CUL4A 0 genome.wustl.edu 37 13 113900350 113900350 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 113900350 113900350 G A SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known silent c.1611 p.T537 0.989 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 34 0 0 41 17 29.3103 DCUN1D2 0 genome.wustl.edu 37 13 114115385 114115385 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 114115385 114115385 C A SNP DCUN1D2 ENST00000478244 human ensembl 74_37 -1 known missense c.587 p.W196L 1.000 pfam_PONY_dom pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D2 HGNC ENSG00000150401 23 0 0 19 4 17.3913 TFDP1 0 genome.wustl.edu 37 13 114287502 114287502 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 114287502 114287502 A G SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known missense c.376 p.K126E 1.000 pfam_E2F_TDP,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 100 0 0 73 21 22.3404 TMEM255B 0 genome.wustl.edu 37 13 114469114 114469114 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 114469114 114469114 T C SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.73 p.S25P 0.958 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 164 0 0 154 29 15.847 IL17D 0 genome.wustl.edu 37 13 21295977 21295977 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 21295977 21295977 G A SNP IL17D ENST00000304920 human ensembl 74_37 +1 known missense c.493 p.V165M 1.000 pfam_IL-17_fam,prints_IL-17_chr pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17D HGNC ENSG00000172458 102 0 0 118 9 7.08661 XPO4 0 genome.wustl.edu 37 13 21417087 21417087 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 21417087 21417087 C T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 32 0 0 34 11 24.4444 SGCG 0 genome.wustl.edu 37 13 23824818 23824818 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 23824818 23824818 G A SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.347 p.R116H 0.262 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 31 0 0 25 4 13.7931 SACS 0 genome.wustl.edu 37 13 23911721 23911721 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 23911721 23911721 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6294 p.I2098M 0.641 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 50 0 0 46 12 20.6897 SPATA13 0 genome.wustl.edu 37 13 24852851 24852851 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 24852851 24852851 A G SNP SPATA13 ENST00000343003 human ensembl 74_37 +1 known missense c.13 p.I5V 0.001 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 16 0 0 10 4 28.5714 CENPJ 0 genome.wustl.edu 37 13 25484017 25484017 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 25484017 25484017 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.776 p.A259V 0.090 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 66 0 0 68 6 8.10811 AMER2 0 genome.wustl.edu 37 13 25745387 25745387 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 25745387 25745387 C T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.371 p.R124H 0.116 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 12 0 0 14 4 22.2222 RNF6 0 genome.wustl.edu 37 13 26788943 26788943 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 26788943 26788943 C T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1076 p.R359H 0.940 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 50 0 0 56 18 24.3243 USP12 0 genome.wustl.edu 37 13 27679880 27679880 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 27679880 27679880 G A SNP USP12 ENST00000282344 human ensembl 74_37 -1 known missense c.331 p.R111W 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 66 0 0 70 13 15.6627 CDX2 0 genome.wustl.edu 37 13 28537246 28537246 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 28537246 28537246 G A SNP CDX2 ENST00000548877 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDX2 HGNC ENSG00000165556 62 0 0 66 4 5.71429 RXFP2 0 genome.wustl.edu 37 13 32355837 32355837 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 32355837 32355837 T G SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.815 p.L272R 0.038 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 39 0 0 47 6 11.3208 BRCA2 0 genome.wustl.edu 37 13 32906995 32906995 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 32906995 32906995 T C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.1380 p.N460 0.001 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 75 0 0 88 6 6.38298 PDS5B 0 genome.wustl.edu 37 13 33306344 33306344 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 33306344 33306344 T C SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.2230 p.F744L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 30 0 0 35 4 10.2564 STARD13 0 genome.wustl.edu 37 13 33704265 33704265 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 33704265 33704265 A G SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.549 p.S183 0.994 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 35 0 0 48 14 22.5806 NBEA 0 genome.wustl.edu 37 13 35756615 35756615 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 35756615 35756615 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4781 p.S1594I 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 64 0 0 51 14 21.5385 NBEA 0 genome.wustl.edu 37 13 35782966 35782966 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 35782966 35782966 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.5496 p.T1832 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 13 0 0 13 3 18.75 MAB21L1 0 genome.wustl.edu 37 13 36049681 36049681 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 36049681 36049681 G A SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.595 p.R199W 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 98 0 0 135 34 20.1183 MAB21L1 0 genome.wustl.edu 37 13 36050268 36050268 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 36050268 36050268 G A SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.8 p.A3V 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 96 0 0 91 13 12.5 DCLK1 0 genome.wustl.edu 37 13 36700138 36700138 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 36700138 36700138 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.137 p.T46M 1.000 NULL 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 97 0 0 111 35 23.9726 SUPT20H 0 genome.wustl.edu 37 13 37605751 37605751 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 37605751 37605751 T C SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.874 p.M292V 1.000 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 53 0 0 62 5 7.46269 CSNK1A1L 0 genome.wustl.edu 37 13 37679211 37679211 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 37679211 37679211 G T SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known missense c.183 p.S61R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 133 0 0 104 34 24.6377 FREM2 0 genome.wustl.edu 37 13 39262270 39262270 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 39262270 39262270 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.789 p.G263 0.034 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 111 0 0 99 32 24.4275 COG6 0 genome.wustl.edu 37 13 40268775 40268775 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 40268775 40268775 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.1079 p.R360Q 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 62 0 0 77 8 9.41176 KBTBD6 0 genome.wustl.edu 37 13 41704639 41704639 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 41704639 41704639 C T SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.2009 p.R670H 0.046 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 54 0 0 65 7 9.72222 VWA8 0 genome.wustl.edu 37 13 42245135 42245135 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 42245135 42245135 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known nonsense c.4558 p.R1520* 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 144 0 0 162 26 13.8298 NUFIP1 0 genome.wustl.edu 37 13 45556233 45556233 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 45556233 45556233 G A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.469 p.P157S 0.150 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 17 0 0 17 4 19.0476 ZC3H13 0 genome.wustl.edu 37 13 46541687 46541687 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46541687 46541687 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.4273 p.Q1425* 0.695 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 104 1 0.952381 113 21 15.6716 ZC3H13 0 genome.wustl.edu 37 13 46541741 46541741 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46541741 46541741 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.4219 p.R1407* 0.320 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 104 0 0 92 34 26.9841 ZC3H13 0 genome.wustl.edu 37 13 46543882 46543882 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46543882 46543882 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2797 p.R933C 0.256 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 150 0 0 141 30 17.5439 ZC3H13 0 genome.wustl.edu 37 13 46544544 46544544 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46544544 46544544 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2525 p.R842H 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 199 0 0 241 18 6.94981 ZC3H13 0 genome.wustl.edu 37 13 46549584 46549584 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46549584 46549584 G C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2302 p.R768G 0.424 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 77 0 0 82 6 6.81818 ZC3H13 0 genome.wustl.edu 37 13 46585643 46585643 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46585643 46585643 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known silent c.495 p.S165 0.992 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 40 0 0 42 9 17.6471 RB1 0 genome.wustl.edu 37 13 48954327 48954327 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 48954327 48954327 A G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1448 p.H483R 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 8 0 0 16 5 23.8095 FNDC3A 0 genome.wustl.edu 37 13 49762768 49762768 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 49762768 49762768 C T SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.1943 p.A648V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 194 0 0 242 15 5.83658 RCBTB1 0 genome.wustl.edu 37 13 50115896 50115896 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 50115896 50115896 C T SNP RCBTB1 ENST00000258646 human ensembl 74_37 -1 known missense c.1240 p.D414N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 63 0 0 59 17 22.3684 TRIM13 0 genome.wustl.edu 37 13 50586282 50586282 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 50586282 50586282 T C SNP TRIM13 ENST00000298772 human ensembl 74_37 +1 known missense c.215 p.L72P 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 62 0 0 70 15 17.6471 ATP7B 0 genome.wustl.edu 37 13 52548156 52548156 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 52548156 52548156 T C SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known silent c.1200 p.T400 0.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 84 0 0 106 28 20.8955 ATP7B 0 genome.wustl.edu 37 13 52548764 52548764 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 52548764 52548764 T C SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.592 p.R198G 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 80 0 0 98 30 23.4375 ATP7B 0 genome.wustl.edu 37 13 52548993 52548993 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 52548993 52548993 G A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known silent c.363 p.F121 0.969 superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 119 1 0.833333 118 14 10.6061 NEK5 0 genome.wustl.edu 37 13 52686485 52686485 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 52686485 52686485 A G SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known silent c.231 p.F77 0.983 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 44 0 0 47 8 14.5455 MRPS31P5 0 genome.wustl.edu 37 13 52742203 52742203 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 52742203 52742203 C T SNP MRPS31P5 ENST00000416599 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors MRPS31P5 HGNC ENSG00000243406 27 0 0 33 7 17.5 PCDH8 0 genome.wustl.edu 37 13 53420843 53420843 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 53420843 53420843 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1729 p.V577I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 13 0 0 26 7 21.2121 PCDH8 0 genome.wustl.edu 37 13 53420985 53420985 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 53420985 53420985 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.1587 p.N529 0.983 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 11 0 0 13 5 27.7778 OLFM4 0 genome.wustl.edu 37 13 53602983 53602983 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 53602983 53602983 C T SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.12 p.G4 0.000 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 182 0 0 161 32 16.5803 PCDH17 0 genome.wustl.edu 37 13 58299028 58299028 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 58299028 58299028 C A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3080 p.P1027H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 97 0 0 111 25 18.3824 TDRD3 0 genome.wustl.edu 37 13 61034638 61034638 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 61034638 61034638 G A SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.317 p.C106Y 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 63 0 0 71 5 6.57895 KLF12 0 genome.wustl.edu 37 13 74289591 74289591 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 74289591 74289591 C T SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known missense c.941 p.R314Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 66 0 0 83 20 19.4175 LMO7 0 genome.wustl.edu 37 13 76432182 76432182 + RNA SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 76432182 76432182 T A SNP LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.669 - - - no_errors LMO7 HGNC ENSG00000136153 16 0 0 22 5 18.5185 MYCBP2 0 genome.wustl.edu 37 13 77670608 77670608 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 77670608 77670608 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known nonsense c.9793 p.R3265* 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 57 0 0 59 16 21.3333 SCEL 0 genome.wustl.edu 37 13 78177256 78177256 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 78177256 78177256 T C SNP SCEL ENST00000349847 human ensembl 74_37 +1 known silent c.1083 p.H361 0.008 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 33 0 0 18 8 30.7692 EDNRB 0 genome.wustl.edu 37 13 78477378 78477378 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 78477378 78477378 T C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.714 p.I238M 0.971 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 149 0 0 134 32 19.2771 SLITRK1 0 genome.wustl.edu 37 13 84455034 84455034 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 84455034 84455034 A G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.609 p.G203 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 72 0 0 105 6 5.40541 SLITRK5 0 genome.wustl.edu 37 13 88329619 88329619 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 88329619 88329619 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1976 p.S659L 0.984 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 77 0 0 86 21 19.6262 SLITRK5 0 genome.wustl.edu 37 13 88329914 88329914 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 88329914 88329914 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.2271 p.G757 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 195 1 0.510204 231 18 7.22892 GPC5 0 genome.wustl.edu 37 13 92051399 92051399 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 92051399 92051399 T C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.99 p.V33 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 36 0 0 33 12 26.6667 GPC6 0 genome.wustl.edu 37 13 93879792 93879792 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 93879792 93879792 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.83 p.R28Q 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 79 0 0 92 18 16.3636 SLC15A1 0 genome.wustl.edu 37 13 99368134 99368134 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 99368134 99368134 C T SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known missense c.721 p.G241S 0.689 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 65 0 0 87 12 12.1212 DLK1 0 genome.wustl.edu 37 14 101193447 101193447 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 101193447 101193447 G A SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known silent c.42 p.L14 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 18 0 0 31 10 24.3902 XRCC3 0 genome.wustl.edu 37 14 104174899 104174899 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 104174899 104174899 T C SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known silent c.153 p.R51 0.008 pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 68 0 0 53 12 18.4615 INF2 0 genome.wustl.edu 37 14 105176023 105176023 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 105176023 105176023 C A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2119 p.L707I 0.964 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 115 0 0 105 6 5.40541 AHNAK2 0 genome.wustl.edu 37 14 105406797 105406797 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 105406797 105406797 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.14991 p.P4997 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 59 0 0 40 24 37.5 AHNAK2 0 genome.wustl.edu 37 14 105416436 105416436 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 105416436 105416436 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.5352 p.V1784 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 364 0 0 277 16 5.46075 AHNAK2 0 genome.wustl.edu 37 14 105418901 105418901 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 105418901 105418901 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.2887 p.S963G 0.299 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 452 0 0 345 30 8 CRIP1 0 genome.wustl.edu 37 14 105954714 105954714 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 105954714 105954714 T C SNP CRIP1 ENST00000330233 human ensembl 74_37 +1 known missense c.182 p.F61S 0.996 pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP1 HGNC ENSG00000213145 51 0 0 40 7 14.8936 TTC5 0 genome.wustl.edu 37 14 20760198 20760198 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 20760198 20760198 A C SNP TTC5 ENST00000258821 human ensembl 74_37 -1 known missense c.1147 p.S383A 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 52 0 0 52 4 7.14286 TEP1 0 genome.wustl.edu 37 14 20859819 20859819 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 20859819 20859819 A C SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.2036 p.V679G 0.987 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 127 0 0 86 24 21.8182 TOX4 0 genome.wustl.edu 37 14 21957415 21957415 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 21957415 21957415 T C SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.663 p.N221 1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 135 0 0 89 50 35.9712 SLC7A7 0 genome.wustl.edu 37 14 23243168 23243168 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 23243168 23243168 C T SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known missense c.1403 p.R468Q 1.000 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 93 0 0 63 23 26.7442 MMP14 0 genome.wustl.edu 37 14 23311783 23311783 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 23311783 23311783 C T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.545 p.A182V 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 59 0 0 47 23 32.8571 ACIN1 0 genome.wustl.edu 37 14 23528387 23528387 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 23528387 23528387 T C SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known silent c.3996 p.T1332 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 116 0 0 92 12 11.5385 NGDN 0 genome.wustl.edu 37 14 23944509 23944509 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 23944509 23944509 A T SNP NGDN ENST00000408901 human ensembl 74_37 +1 known missense c.274 p.I92F 1.000 pfam_Sas10/Utp3/C1D pfam_Sas10/Utp3/C1D - no_errors NGDN HGNC ENSG00000129460 56 0 0 42 4 8.69565 DHRS4L1 0 genome.wustl.edu 37 14 24507062 24507062 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24507062 24507062 G T SNP DHRS4L1 ENST00000558682 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 63 0 0 32 13 28.8889 LRRC16B 0 genome.wustl.edu 37 14 24523933 24523933 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24523933 24523933 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.376 p.R126C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 42 0 0 45 10 18.1818 RNF31 0 genome.wustl.edu 37 14 24620458 24620458 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24620458 24620458 C T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.1607 p.A536V 0.996 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 59 0 0 57 20 25.974 IRF9 0 genome.wustl.edu 37 14 24633858 24633858 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24633858 24633858 C T SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known missense c.685 p.R229C 0.004 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 162 1 0.613497 137 8 5.51724 IPO4 0 genome.wustl.edu 37 14 24654689 24654689 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24654689 24654689 C A SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known silent c.1254 p.L418 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 98 0 0 74 15 16.8539 ADCY4 0 genome.wustl.edu 37 14 24800306 24800306 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24800306 24800306 G A SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.848 p.T283M 0.999 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 65 0 0 41 9 18 RIPK3 0 genome.wustl.edu 37 14 24808695 24808695 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24808695 24808695 C T SNP RIPK3 ENST00000216274 human ensembl 74_37 -1 known nonsense c.129 p.W43* 0.122 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 237 1 0.420168 179 27 13.1068 HECTD1 0 genome.wustl.edu 37 14 31604737 31604737 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 31604737 31604737 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.3199 p.H1067Y 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 32 0 0 21 10 32.2581 NUBPL 0 genome.wustl.edu 37 14 32295920 32295920 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 32295920 32295920 C T SNP NUBPL ENST00000281081 human ensembl 74_37 +1 known silent c.693 p.P231 0.968 pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase - no_errors NUBPL HGNC ENSG00000151413 62 0 0 39 13 25 ARHGAP5 0 genome.wustl.edu 37 14 32560039 32560039 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 32560039 32560039 C A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.164 p.S55Y 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 91 0 0 98 6 5.76923 INSM2 0 genome.wustl.edu 37 14 36004421 36004421 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 36004421 36004421 C T SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.963 p.N321 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 67 0 0 65 24 26.9663 NKX2-8 0 genome.wustl.edu 37 14 37051497 37051497 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 37051497 37051497 C T SNP NKX2-8 ENST00000258829 human ensembl 74_37 -1 known missense c.98 p.R33H 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-8 HGNC ENSG00000136327 29 0 0 34 4 10.5263 PAX9 0 genome.wustl.edu 37 14 37132287 37132287 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 37132287 37132287 G A SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.190 p.G64S 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 66 0 0 63 7 10 CLEC14A 0 genome.wustl.edu 37 14 38724473 38724473 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 38724473 38724473 C T SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.755 p.R252H 0.584 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 264 0 0 245 20 7.54717 FSCB 0 genome.wustl.edu 37 14 44975176 44975176 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 44975176 44975176 C T SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1015 p.E339K 0.758 NULL NULL - no_errors FSCB HGNC ENSG00000189139 117 0 0 107 7 6.14035 FSCB 0 genome.wustl.edu 37 14 44975348 44975348 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 44975348 44975348 C T SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.843 p.A281 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 67 0 0 45 19 29.6875 MIS18BP1 0 genome.wustl.edu 37 14 45693302 45693302 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 45693302 45693302 T C SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.2488 p.I830V 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 49 0 0 39 5 11.3636 DDHD1 0 genome.wustl.edu 37 14 53513591 53513591 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 53513591 53513591 C T SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known silent c.2598 p.S866 0.200 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 68 0 0 36 17 32.0755 KIAA0586 0 genome.wustl.edu 37 14 58955434 58955434 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 58955434 58955434 C T SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.3578 p.A1193V 0.011 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 51 0 0 43 14 24.5614 DACT1 0 genome.wustl.edu 37 14 59113370 59113370 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 59113370 59113370 C T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known missense c.2029 p.R677W 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 42 0 0 21 9 30 DACT1 0 genome.wustl.edu 37 14 59113705 59113705 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 59113705 59113705 C T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.2364 p.V788 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 103 0 0 93 11 10.5769 SIX6 0 genome.wustl.edu 37 14 60976276 60976276 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 60976276 60976276 C T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known silent c.160 p.L54 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 64 0 0 70 5 6.66667 KCNH5 0 genome.wustl.edu 37 14 63417226 63417226 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 63417226 63417226 C A SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.994 p.G332C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 62 0 0 45 10 18.1818 SYNE2 0 genome.wustl.edu 37 14 64604578 64604578 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 64604578 64604578 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.14720 p.A4907V 0.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 125 0 0 79 23 22.549 SYNE2 0 genome.wustl.edu 37 14 64630228 64630228 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 64630228 64630228 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.16408 p.G5470C 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 43 0 0 33 14 29.7872 SYNE2 0 genome.wustl.edu 37 14 64690024 64690024 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 64690024 64690024 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.20308 p.H6770Y 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 48 0 0 43 12 21.8182 ENSG00000259076 0 genome.wustl.edu 37 14 65019495 65019495 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 65019495 65019495 G A SNP ENSG00000259076 ENST00000554454 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-973N13.3 Clone_based_vega_gene ENSG00000259076 34 0 0 29 6 17.1429 PLEKHG3 0 genome.wustl.edu 37 14 65197815 65197815 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 65197815 65197815 T C SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.777 p.I259 0.799 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 120 0 0 89 63 41.4474 PLEKHG3 0 genome.wustl.edu 37 14 65208145 65208145 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 65208145 65208145 G A SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.1910 p.R637Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 60 0 0 39 12 23.5294 SPTB 0 genome.wustl.edu 37 14 65239533 65239533 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 65239533 65239533 T C SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.5318 p.D1773G 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC ENSG00000070182 61 0 0 47 19 28.7879 GPHN 0 genome.wustl.edu 37 14 67646303 67646303 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 67646303 67646303 T C SNP GPHN ENST00000478722 human ensembl 74_37 +1 known silent c.2088 p.C696 1.000 pfam_MoeA_C_domain_IV,superfamily_MoeA_C_domain_IV pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 37 0 0 39 3 7.14286 RDH12 0 genome.wustl.edu 37 14 68193827 68193827 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 68193827 68193827 G A SNP RDH12 ENST00000267502 human ensembl 74_37 +1 known missense c.578 p.R193H 0.002 pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH12 HGNC ENSG00000139988 62 0 0 38 21 35.5932 ZFYVE26 0 genome.wustl.edu 37 14 68217772 68217772 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 68217772 68217772 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known silent c.7413 p.N2471 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 84 0 0 48 26 35.1351 ADAM21 0 genome.wustl.edu 37 14 70924617 70924617 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 70924617 70924617 G T SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.401 p.G134V 0.819 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 77 0 0 52 27 34.1772 ADAM21 0 genome.wustl.edu 37 14 70925702 70925702 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 70925702 70925702 T C SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.1486 p.C496R 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 109 0 0 89 23 20.5357 MAP3K9 0 genome.wustl.edu 37 14 71199959 71199959 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 71199959 71199959 G A SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known silent c.2169 p.G723 0.948 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 84 0 0 55 29 34.5238 SIPA1L1 0 genome.wustl.edu 37 14 72055061 72055061 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 72055061 72055061 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.472 p.A158T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 84 0 0 62 7 10.1449 SIPA1L1 0 genome.wustl.edu 37 14 72117190 72117190 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 72117190 72117190 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known nonsense c.1957 p.G653* 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 74 0 0 51 16 23.8806 ZFYVE1 0 genome.wustl.edu 37 14 73491079 73491079 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 73491079 73491079 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known silent c.138 p.E46 0.999 superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 113 0 0 116 10 7.93651 RBM25 0 genome.wustl.edu 37 14 73563627 73563627 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 73563627 73563627 C T SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.548 p.A183V 0.999 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 60 0 0 51 19 27.1429 VRTN 0 genome.wustl.edu 37 14 74824125 74824125 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 74824125 74824125 C T SNP VRTN ENST00000256362 human ensembl 74_37 +1 known silent c.639 p.H213 0.001 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 108 0 0 83 11 11.7021 VRTN 0 genome.wustl.edu 37 14 74824348 74824348 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 74824348 74824348 C T SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.862 p.R288C 1.000 pfam_Transposase_8 pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 74 0 0 52 25 32.4675 MLH3 0 genome.wustl.edu 37 14 75515217 75515217 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 75515217 75515217 C T SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.1142 p.R381H 0.232 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 26 0 0 35 4 10.2564 ZC2HC1C 0 genome.wustl.edu 37 14 75537318 75537318 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 75537318 75537318 C T SNP ZC2HC1C ENST00000524913 human ensembl 74_37 +1 known silent c.42 p.G14 0.872 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 95 0 0 61 18 22.7848 ZC2HC1C 0 genome.wustl.edu 37 14 75538480 75538480 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 75538480 75538480 A G SNP ZC2HC1C ENST00000524913 human ensembl 74_37 +1 known missense c.1204 p.R402G 0.604 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 64 0 0 50 4 7.40741 TMED10 0 genome.wustl.edu 37 14 75601521 75601521 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 75601521 75601521 G T SNP TMED10 ENST00000557670 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TMED10 HGNC ENSG00000170348 42 0 0 33 18 35.2941 TGFB3 0 genome.wustl.edu 37 14 76437518 76437518 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 76437518 76437518 C T SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known nonsense c.597 p.W199* 1.000 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 128 0 0 89 40 31.0078 CEP128 0 genome.wustl.edu 37 14 81382809 81382809 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 81382809 81382809 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.83 p.G28E 0.001 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 77 0 0 64 20 23.8095 KCNK10 0 genome.wustl.edu 37 14 88658749 88658749 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 88658749 88658749 C G SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.687 p.K229N 1.000 prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TRAAK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 133 0 0 77 43 35.8333 EML5 0 genome.wustl.edu 37 14 89094017 89094017 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 89094017 89094017 T A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.4504 p.T1502S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 27 0 0 31 2 6.06061 NRDE2 0 genome.wustl.edu 37 14 90770560 90770560 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 90770560 90770560 T C SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.724 p.K242E 0.001 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 106 0 0 100 12 10.7143 C14orf159 0 genome.wustl.edu 37 14 91666132 91666132 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 91666132 91666132 G A SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.1327 p.G443R 0.994 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 115 0 0 81 39 32.5 GOLGA5 0 genome.wustl.edu 37 14 93263965 93263965 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 93263965 93263965 G A SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known silent c.183 p.T61 0.000 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 71 0 0 64 7 9.85915 UNC79 0 genome.wustl.edu 37 14 94149032 94149032 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 94149032 94149032 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.6994 p.V2332I 0.354 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 54 0 0 34 18 34.6154 SERPINA10 0 genome.wustl.edu 37 14 94754760 94754760 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 94754760 94754760 A G SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known silent c.855 p.C285 0.426 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 55 0 0 40 21 34.4262 SERPINA5 0 genome.wustl.edu 37 14 95056471 95056471 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 95056471 95056471 G A SNP SERPINA5 ENST00000329597 human ensembl 74_37 +1 known missense c.713 p.R238H 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA5 HGNC ENSG00000188488 44 0 0 28 6 17.6471 DICER1 0 genome.wustl.edu 37 14 95590984 95590984 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 95590984 95590984 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.925 p.V309I 1.000 superfamily_P-loop_NTPase pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 81 0 0 65 19 22.619 BDKRB2 0 genome.wustl.edu 37 14 96707293 96707293 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 96707293 96707293 G A SNP BDKRB2 ENST00000306005 human ensembl 74_37 +1 known missense c.628 p.A210T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_2_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 79 0 0 49 6 10.9091 ATG2B 0 genome.wustl.edu 37 14 96756052 96756052 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 96756052 96756052 C T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.5947 p.A1983T 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 126 0 0 109 31 22.1429 MEF2A 0 genome.wustl.edu 37 15 100214625 100214625 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 100214625 100214625 A T SNP MEF2A ENST00000338042 human ensembl 74_37 +1 known missense c.418 p.M140L 1.000 pfam_HJURP_C pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 216 0 0 111 24 17.7778 DNM1P46 0 genome.wustl.edu 37 15 100339879 100339879 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 100339879 100339879 C T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors DNM1P46 HGNC ENSG00000182397 55 0 0 42 13 23.6364 ADAMTS17 0 genome.wustl.edu 37 15 100649211 100649211 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 100649211 100649211 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.1999 p.V667M 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 109 0 0 79 17 17.7083 LRRK1 0 genome.wustl.edu 37 15 101523844 101523844 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 101523844 101523844 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.373 p.V125M 0.994 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 83 0 0 77 5 6.09756 DNM1P47 0 genome.wustl.edu 37 15 102292715 102292715 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 102292715 102292715 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors DNM1P47 HGNC ENSG00000259660 36 0 0 19 10 34.4828 ENSG00000259596 0 genome.wustl.edu 37 15 22780784 22780784 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 22780784 22780784 C A SNP ENSG00000259596 ENST00000560026 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors RP11-566K19.3 Clone_based_vega_gene ENSG00000259596 53 0 0 25 12 32.4324 MAGEL2 0 genome.wustl.edu 37 15 23890497 23890497 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 23890497 23890497 G T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.584 p.P195H 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 84 0 0 64 31 32.6316 NPAP1 0 genome.wustl.edu 37 15 24921102 24921102 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 24921102 24921102 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.88 p.R30W 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 14 0 0 20 4 16.6667 NPAP1 0 genome.wustl.edu 37 15 24922701 24922701 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 24922701 24922701 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1687 p.A563T 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 154 0 0 101 10 9.00901 NPAP1 0 genome.wustl.edu 37 15 24923732 24923732 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 24923732 24923732 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.2718 p.G906 0.006 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 148 0 0 146 9 5.80645 SNHG14 0 genome.wustl.edu 37 15 25468331 25468331 + RNA SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 25468331 25468331 A C SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 134 0 0 80 58 42.029 ATP10A 0 genome.wustl.edu 37 15 25925976 25925976 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 25925976 25925976 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3659 p.G1220D 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 229 1 0.434783 190 15 7.31707 HERC2 0 genome.wustl.edu 37 15 28389353 28389353 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 28389353 28389353 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.11169 p.C3723 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 109 0 0 82 36 30.5085 HERC2 0 genome.wustl.edu 37 15 28408275 28408275 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 28408275 28408275 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10711 p.A3571T 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 110 0 0 78 38 32.7586 HERC2 0 genome.wustl.edu 37 15 28501287 28501287 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 28501287 28501287 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.2694 p.L898 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 46 0 0 26 8 23.5294 TJP1 0 genome.wustl.edu 37 15 29997794 29997794 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 29997794 29997794 T C SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.5006 p.Q1669R 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 45 0 0 30 14 31.8182 ENSG00000221358 0 genome.wustl.edu 37 15 30906106 30906106 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 30906106 30906106 C A SNP ENSG00000221358 ENST00000408431 human ensembl 74_37 +1 novel rna NULL NULL 0.621 - - - no_errors AC026150.1 Clone_based_ensembl_gene ENSG00000221358 69 0 0 40 16 28.5714 FAN1 0 genome.wustl.edu 37 15 31206262 31206262 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 31206262 31206262 C T SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known silent c.1779 p.T593 0.239 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 68 0 0 53 4 7.01754 MTMR10 0 genome.wustl.edu 37 15 31239334 31239334 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 31239334 31239334 G A SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.1547 p.T516M 0.996 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 179 0 0 145 11 7.05128 CHRNA7 0 genome.wustl.edu 37 15 32460211 32460211 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 32460211 32460211 G A SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known missense c.1148 p.R383H 0.997 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 68 0 0 51 13 20.3125 ARHGAP11A 0 genome.wustl.edu 37 15 32928134 32928134 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 32928134 32928134 T G SNP ARHGAP11A ENST00000567348 human ensembl 74_37 +1 putative missense c.1501 p.C501G 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 38 0 0 19 12 38.7097 RYR3 0 genome.wustl.edu 37 15 33938573 33938573 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 33938573 33938573 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3787 p.M1263V 1.000 pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 230 0 0 159 51 24.2857 RYR3 0 genome.wustl.edu 37 15 34014936 34014936 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 34014936 34014936 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6640 p.A2214T 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 121 0 0 95 59 38.3117 RYR3 0 genome.wustl.edu 37 15 34111969 34111969 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 34111969 34111969 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.10719 p.D3573 0.828 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 337 0 0 183 71 27.9528 SLC12A6 0 genome.wustl.edu 37 15 34528946 34528946 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 34528946 34528946 C T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.2978 p.R993Q 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 78 0 0 63 5 7.35294 AQR 0 genome.wustl.edu 37 15 35210478 35210478 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 35210478 35210478 A G SNP AQR ENST00000156471 human ensembl 74_37 -1 known silent c.1323 p.T441 0.989 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 33 0 0 34 14 29.1667 RASGRP1 0 genome.wustl.edu 37 15 38811574 38811574 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 38811574 38811574 T C SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known splice_site c.327-2 e4-2 0.964 - - - no_errors RASGRP1 HGNC ENSG00000172575 88 0 0 72 12 14.2857 FSIP1 0 genome.wustl.edu 37 15 40030381 40030381 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 40030381 40030381 G T SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.802 p.P268T 0.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 75 0 0 56 9 13.8462 BMF 0 genome.wustl.edu 37 15 40396520 40396520 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 40396520 40396520 G T SNP BMF ENST00000354670 human ensembl 74_37 -1 known missense c.314 p.P105H 1.000 NULL NULL - no_errors BMF HGNC ENSG00000104081 163 0 0 103 28 21.374 PLCB2 0 genome.wustl.edu 37 15 40581489 40581489 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 40581489 40581489 C T SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.3338 p.R1113Q 0.990 pirsf_PLC-beta,pfam_PLC-beta_C pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 109 0 0 76 13 14.6067 DISP2 0 genome.wustl.edu 37 15 40656439 40656439 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 40656439 40656439 C A SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known silent c.462 p.A154 0.996 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 115 0 0 104 7 6.30631 RHOV 0 genome.wustl.edu 37 15 41165524 41165524 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41165524 41165524 C A SNP RHOV ENST00000220507 human ensembl 74_37 -1 known missense c.443 p.R148M 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC ENSG00000104140 124 0 0 102 48 32 VPS18 0 genome.wustl.edu 37 15 41192775 41192775 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41192775 41192775 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.1759 p.A587T 0.402 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 149 0 0 83 53 38.9706 CHAC1 0 genome.wustl.edu 37 15 41245901 41245901 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41245901 41245901 C T SNP CHAC1 ENST00000446533 human ensembl 74_37 +1 known silent c.246 p.S82 0.858 pfam_ChaC pfam_ChaC - no_errors CHAC1 HGNC ENSG00000128965 54 0 0 55 7 11.2903 NUSAP1 0 genome.wustl.edu 37 15 41650447 41650447 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41650447 41650447 T C SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known silent c.651 p.N217 0.432 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 20 0 0 23 7 23.3333 RTF1 0 genome.wustl.edu 37 15 41772871 41772871 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41772871 41772871 C T SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known nonsense c.2119 p.R707* 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 59 0 0 32 3 8.57143 ITPKA 0 genome.wustl.edu 37 15 41795299 41795299 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41795299 41795299 G A SNP ITPKA ENST00000260386 human ensembl 74_37 +1 known missense c.1321 p.E441K 1.000 pfam_IPK pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 33 0 0 27 14 34.1463 RPAP1 0 genome.wustl.edu 37 15 41813935 41813935 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41813935 41813935 C T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known splice_site c.3038+1 e20+1 1.000 - - - no_errors RPAP1 HGNC ENSG00000103932 88 0 0 39 19 32.7586 RPAP1 0 genome.wustl.edu 37 15 41819247 41819247 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41819247 41819247 A G SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.1766 p.L589P 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 103 0 0 95 9 8.65385 TYRO3 0 genome.wustl.edu 37 15 41859581 41859581 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41859581 41859581 G A SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known nonsense c.807 p.W269* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 122 0 0 89 19 17.5926 MGA 0 genome.wustl.edu 37 15 42058413 42058413 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42058413 42058413 G A SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.8133 p.V2711 0.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 26 0 0 22 9 29.0323 SPTBN5 0 genome.wustl.edu 37 15 42144453 42144453 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42144453 42144453 A G SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.10511 p.L3504P 0.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 27 0 0 24 6 20 SPTBN5 0 genome.wustl.edu 37 15 42147121 42147121 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42147121 42147121 C A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.9477 p.Q3159H 0.723 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 75 0 0 41 17 29.3103 SPTBN5 0 genome.wustl.edu 37 15 42158575 42158575 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42158575 42158575 C A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.6597 p.Q2199H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 48 0 0 44 19 30.1587 PLA2G4D 0 genome.wustl.edu 37 15 42364557 42364557 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42364557 42364557 C T SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known missense c.1351 p.A451T 0.254 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_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 PLA2G4D HGNC ENSG00000159337 158 1 0.628931 177 12 6.34921 ZNF106 0 genome.wustl.edu 37 15 42743622 42743622 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42743622 42743622 G A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.779 p.T260I 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 74 0 0 66 12 15.3846 LCMT2 0 genome.wustl.edu 37 15 43621423 43621423 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 43621423 43621423 A G SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known missense c.1265 p.M422T 1.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 104 0 0 72 35 32.7103 FRMD5 0 genome.wustl.edu 37 15 44166387 44166387 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 44166387 44166387 G A SNP FRMD5 ENST00000417257 human ensembl 74_37 -1 known missense c.1409 p.T470I 0.511 NULL pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD5 HGNC ENSG00000171877 89 0 0 92 21 18.5841 SPG11 0 genome.wustl.edu 37 15 44944338 44944338 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 44944338 44944338 G T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.996 p.F332L 0.997 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 58 0 0 54 13 19.403 SLC12A1 0 genome.wustl.edu 37 15 48499975 48499975 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 48499975 48499975 G A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.59 p.R20H 1.000 NULL pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 25 0 0 25 10 28.5714 FBN1 0 genome.wustl.edu 37 15 48797314 48797314 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 48797314 48797314 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1868 p.C623Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 95 0 0 73 31 29.8077 CEP152 0 genome.wustl.edu 37 15 49033864 49033864 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 49033864 49033864 C T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.4027 p.A1343T 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 116 0 0 77 8 9.41176 SLC27A2 0 genome.wustl.edu 37 15 50494701 50494701 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 50494701 50494701 A G SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.706 p.M236V 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 71 0 0 45 23 33.8235 GNB5 0 genome.wustl.edu 37 15 52427943 52427943 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 52427943 52427943 G A SNP GNB5 ENST00000261837 human ensembl 74_37 -1 known missense c.638 p.A213V 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC ENSG00000069966 145 0 0 103 39 27.4648 ONECUT1 0 genome.wustl.edu 37 15 53081585 53081585 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 53081585 53081585 G A SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.497 p.T166I 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 129 0 0 137 9 6.16438 WDR72 0 genome.wustl.edu 37 15 54003111 54003111 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 54003111 54003111 C T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.897 p.V299 0.471 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 42 0 0 29 3 9.375 TCF12 0 genome.wustl.edu 37 15 57574703 57574703 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 57574703 57574703 C T SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known missense c.2039 p.A680V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 182 0 0 138 38 21.5909 AQP9 0 genome.wustl.edu 37 15 58465365 58465365 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 58465365 58465365 G T SNP AQP9 ENST00000219919 human ensembl 74_37 +1 known missense c.337 p.A113S 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_9,prints_Aquaporin_3,prints_Aquaporin_10,tigrfam_MIP - no_errors AQP9 HGNC ENSG00000103569 141 0 0 95 38 28.5714 GCNT3 0 genome.wustl.edu 37 15 59911535 59911535 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 59911535 59911535 G A SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known nonsense c.1098 p.W366* 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 123 0 0 112 28 20 TLN2 0 genome.wustl.edu 37 15 63047787 63047787 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 63047787 63047787 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.4533 p.C1511 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 86 0 0 47 17 26.5625 SNX1 0 genome.wustl.edu 37 15 64424071 64424071 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 64424071 64424071 C T SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.1201 p.R401C 1.000 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 117 0 0 56 19 25.3333 RASL12 0 genome.wustl.edu 37 15 65350892 65350892 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65350892 65350892 C T SNP RASL12 ENST00000220062 human ensembl 74_37 -1 known missense c.298 p.V100I 0.998 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,tigrfam_Small_GTP-bd_dom 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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL12 HGNC ENSG00000103710 96 0 0 62 25 28.7356 KBTBD13 0 genome.wustl.edu 37 15 65369317 65369317 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65369317 65369317 C T SNP KBTBD13 ENST00000432196 human ensembl 74_37 +1 known missense c.164 p.A55V 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD13 HGNC ENSG00000234438 10 0 0 5 3 37.5 KBTBD13 0 genome.wustl.edu 37 15 65370228 65370228 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65370228 65370228 G A SNP KBTBD13 ENST00000432196 human ensembl 74_37 +1 known missense c.1075 p.G359R 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD13 HGNC ENSG00000234438 65 0 0 44 20 31.25 PTPLAD1 0 genome.wustl.edu 37 15 65856652 65856652 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65856652 65856652 C T SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known missense c.632 p.T211M 0.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 82 0 0 79 9 10.2273 SLC24A1 0 genome.wustl.edu 37 15 65918027 65918027 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65918027 65918027 C A SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.1609 p.L537I 1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 144 0 0 84 26 23.6364 DENND4A 0 genome.wustl.edu 37 15 65983682 65983682 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65983682 65983682 T G SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.3247 p.M1083L 0.818 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 37 0 0 28 14 33.3333 DENND4A 0 genome.wustl.edu 37 15 65993442 65993442 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 65993442 65993442 T C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.2648 p.Q883R 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 57 0 0 37 9 19.5652 DIS3L 0 genome.wustl.edu 37 15 66587407 66587407 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 66587407 66587407 A G SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.221 p.E74G 1.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 59 0 0 46 4 8 RPL4 0 genome.wustl.edu 37 15 66795088 66795088 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 66795088 66795088 T C SNP RPL4 ENST00000307961 human ensembl 74_37 -1 known missense c.283 p.M95V 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 77 0 0 58 22 27.5 CLN6 0 genome.wustl.edu 37 15 68500514 68500514 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 68500514 68500514 C A SNP CLN6 ENST00000249806 human ensembl 74_37 -1 known missense c.900 p.W300C 1.000 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 114 0 0 74 24 24.4898 ITGA11 0 genome.wustl.edu 37 15 68599709 68599709 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 68599709 68599709 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.3358 p.R1120C 0.995 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 8 0 0 5 4 44.4444 UACA 0 genome.wustl.edu 37 15 70976697 70976697 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 70976697 70976697 C T SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.691 p.A231T 0.979 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 117 0 0 95 40 29.6296 ADPGK 0 genome.wustl.edu 37 15 73048721 73048721 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 73048721 73048721 G A SNP ADPGK ENST00000311669 human ensembl 74_37 -1 known silent c.711 p.N237 0.994 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ENSG00000159322 93 0 0 102 9 8.10811 NPTN 0 genome.wustl.edu 37 15 73884433 73884433 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 73884433 73884433 G T SNP NPTN ENST00000345330 human ensembl 74_37 -1 known missense c.485 p.P162H 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 95 0 0 81 12 12.9032 ISLR2 0 genome.wustl.edu 37 15 74426790 74426790 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 74426790 74426790 C A SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.1695 p.S565 0.573 superfamily_Fibronectin_type3 pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 36 0 0 25 10 28.5714 CLK3 0 genome.wustl.edu 37 15 74921020 74921020 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 74921020 74921020 A G SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.1645 p.T549A 0.998 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 69 0 0 36 8 18.1818 LMAN1L 0 genome.wustl.edu 37 15 75117939 75117939 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 75117939 75117939 C T SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known missense c.1574 p.P525L 0.037 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 124 0 0 98 41 29.4964 RPP25 0 genome.wustl.edu 37 15 75248399 75248399 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 75248399 75248399 G T SNP RPP25 ENST00000322177 human ensembl 74_37 -1 known missense c.526 p.P176T 0.001 NULL pfam_DNA/RNA-bd_Alba-like - no_errors RPP25 HGNC ENSG00000178718 25 0 0 26 5 16.129 MAN2C1 0 genome.wustl.edu 37 15 75650805 75650805 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 75650805 75650805 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.2401 p.E801K 0.668 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 72 0 0 96 7 6.79612 CSPG4 0 genome.wustl.edu 37 15 75968881 75968881 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 75968881 75968881 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.5979 p.G1993 0.007 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 114 0 0 77 48 38.4 C15orf27 0 genome.wustl.edu 37 15 76426618 76426618 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 76426618 76426618 C A SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.14 p.P5Q 0.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 104 0 0 101 6 5.60748 SH2D7 0 genome.wustl.edu 37 15 78384986 78384986 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 78384986 78384986 C T SNP SH2D7 ENST00000328828 human ensembl 74_37 +1 novel silent c.60 p.S20 0.196 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC ENSG00000183476 11 0 0 11 5 31.25 SH2D7 0 genome.wustl.edu 37 15 78390335 78390335 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 78390335 78390335 G A SNP SH2D7 ENST00000328828 human ensembl 74_37 +1 novel missense c.331 p.G111R 0.997 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC ENSG00000183476 68 0 0 45 21 31.8182 RASGRF1 0 genome.wustl.edu 37 15 79323808 79323808 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 79323808 79323808 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1196 p.T399M 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 40 0 0 28 9 24.3243 KIAA1024 0 genome.wustl.edu 37 15 79755409 79755409 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 79755409 79755409 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.2299 p.A767T 1.000 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 57 0 0 73 8 9.87654 KIAA1024 0 genome.wustl.edu 37 15 79760530 79760530 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 79760530 79760530 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.2555 p.T852M 0.996 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 22 0 0 16 4 20 MTHFS 0 genome.wustl.edu 37 15 80181594 80181594 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 80181594 80181594 G A SNP MTHFS ENST00000258874 human ensembl 74_37 -1 known nonsense c.220 p.R74* 0.055 pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase - no_errors MTHFS HGNC ENSG00000136371 92 0 0 92 10 9.80392 KIAA1199 0 genome.wustl.edu 37 15 81181894 81181894 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 81181894 81181894 T G SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known silent c.1047 p.A349 0.995 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 71 0 0 71 6 7.79221 MESDC1 0 genome.wustl.edu 37 15 81295628 81295628 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 81295628 81295628 T C SNP MESDC1 ENST00000267984 human ensembl 74_37 +1 known missense c.1016 p.L339P 1.000 NULL NULL - no_errors MESDC1 HGNC ENSG00000140406 19 0 0 21 12 36.3636 IL16 0 genome.wustl.edu 37 15 81572089 81572089 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 81572089 81572089 T C SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.1055 p.I352T 0.983 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 40 0 0 47 13 21.6667 EFTUD1 0 genome.wustl.edu 37 15 82443856 82443856 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 82443856 82443856 A G SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.2939 p.L980P 1.000 pfam_EFG_V,superfamily_Ribosomal_S5_D2-typ_fold,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 99 0 0 84 8 8.69565 CPEB1 0 genome.wustl.edu 37 15 83218385 83218385 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 83218385 83218385 T G SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known missense c.1239 p.L413F 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 62 0 0 52 19 26.7606 ALPK3 0 genome.wustl.edu 37 15 85383099 85383099 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 85383099 85383099 G T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known nonsense c.1195 p.E399* 0.994 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 104 0 0 60 28 31.8182 ALPK3 0 genome.wustl.edu 37 15 85407851 85407851 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 85407851 85407851 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.5284 p.L1762 0.997 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 61 0 0 60 13 17.8082 SLC28A1 0 genome.wustl.edu 37 15 85438268 85438268 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 85438268 85438268 C T SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known silent c.375 p.H125 0.001 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 114 0 0 83 25 23.1481 AKAP13 0 genome.wustl.edu 37 15 86262364 86262364 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 86262364 86262364 A G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.6071 p.Y2024C 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 62 0 0 47 5 9.61538 NTRK3 0 genome.wustl.edu 37 15 88576217 88576217 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 88576217 88576217 G T SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.1456 p.H486N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 18 0 0 20 6 23.0769 ACAN 0 genome.wustl.edu 37 15 89398379 89398379 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 89398379 89398379 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2563 p.P855S 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 50 0 0 41 11 21.1538 TICRR 0 genome.wustl.edu 37 15 90137717 90137717 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 90137717 90137717 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.1613 p.A538V 0.579 NULL NULL - no_errors TICRR HGNC ENSG00000140534 56 0 0 30 21 41.1765 TICRR 0 genome.wustl.edu 37 15 90167738 90167738 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 90167738 90167738 G A SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.4197 p.Q1399 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 198 0 0 111 98 46.89 KIF7 0 genome.wustl.edu 37 15 90177089 90177089 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 90177089 90177089 G A SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.2420 p.T807M 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 79 0 0 78 8 9.30233 ANPEP 0 genome.wustl.edu 37 15 90348617 90348617 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 90348617 90348617 G A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.692 p.A231V 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 68 0 0 70 22 23.913 FES 0 genome.wustl.edu 37 15 91436921 91436921 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 91436921 91436921 A C SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.2083 p.N695H 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 78 0 0 72 25 25.7732 MAN2A2 0 genome.wustl.edu 37 15 91449162 91449162 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 91449162 91449162 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.623 p.R208Q 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 26 0 0 26 3 10.3448 PRC1 0 genome.wustl.edu 37 15 91517829 91517829 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 91517829 91517829 C T SNP PRC1 ENST00000394249 human ensembl 74_37 -1 known missense c.1336 p.A446T 1.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 178 0 0 123 52 29.7143 VPS33B 0 genome.wustl.edu 37 15 91543776 91543776 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 91543776 91543776 T G SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known missense c.1525 p.M509L 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 43 0 0 41 18 30.5085 NUBP1 0 genome.wustl.edu 37 16 10850599 10850599 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 10850599 10850599 C A SNP NUBP1 ENST00000283027 human ensembl 74_37 +1 known missense c.413 p.P138H 1.000 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Anion-transp_ATPase-like_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NUBP1 HGNC ENSG00000103274 58 0 0 38 11 22.449 CIITA 0 genome.wustl.edu 37 16 11000930 11000930 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 11000930 11000930 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.1581 p.G527 0.951 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 76 0 0 56 7 11.1111 CLEC16A 0 genome.wustl.edu 37 16 11214578 11214578 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 11214578 11214578 G A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known silent c.2223 p.V741 0.979 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 14 0 0 16 5 23.8095 RSL1D1 0 genome.wustl.edu 37 16 11940598 11940598 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 11940598 11940598 G A SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known missense c.487 p.R163W 0.974 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 245 0 0 202 18 8.18182 CACNA1H 0 genome.wustl.edu 37 16 1250471 1250471 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1250471 1250471 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known nonsense c.1019 p.W340* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 59 0 0 61 5 7.57576 TPSG1 0 genome.wustl.edu 37 16 1273479 1273479 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1273479 1273479 G A SNP TPSG1 ENST00000234798 human ensembl 74_37 -1 known silent c.189 p.C63 0.995 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 12 0 0 7 6 46.1538 BAIAP3 0 genome.wustl.edu 37 16 1392602 1392602 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1392602 1392602 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.1137 p.H379 0.998 superfamily_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 15 0 0 10 3 23.0769 BAIAP3 0 genome.wustl.edu 37 16 1395287 1395287 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1395287 1395287 C A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.2083 p.P695T 0.974 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 100 0 0 82 9 9.89011 ERCC4 0 genome.wustl.edu 37 16 14020477 14020477 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 14020477 14020477 C T SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.448 p.R150C 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 132 0 0 90 25 21.7391 CLCN7 0 genome.wustl.edu 37 16 1498368 1498368 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1498368 1498368 G A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.2001 p.A667 0.000 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 58 0 0 46 4 8 PTX4 0 genome.wustl.edu 37 16 1536392 1536392 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1536392 1536392 C A SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.985 p.G329C 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 107 0 0 89 7 7.29167 IFT140 0 genome.wustl.edu 37 16 1561127 1561127 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1561127 1561127 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.4207 p.R1403W 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 22 0 0 15 2 11.7647 MYH11 0 genome.wustl.edu 37 16 15814019 15814019 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 15814019 15814019 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4963 p.R1655C 0.997 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 138 0 0 117 10 7.87402 MYH11 0 genome.wustl.edu 37 16 15818530 15818530 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 15818530 15818530 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4111 p.R1371C 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 152 0 0 122 11 8.27068 ABCC1 0 genome.wustl.edu 37 16 16208889 16208889 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 16208889 16208889 G A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.3376 p.A1126T 0.987 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 62 0 0 34 8 19.0476 XYLT1 0 genome.wustl.edu 37 16 17211773 17211773 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 17211773 17211773 T C SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.2287 p.M763V 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 99 0 0 61 28 31.4607 NUBP2 0 genome.wustl.edu 37 16 1836584 1836584 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 1836584 1836584 A G SNP NUBP2 ENST00000262302 human ensembl 74_37 +1 known silent c.63 p.S21 0.033 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK,superfamily_P-loop_NTPase - no_errors NUBP2 HGNC ENSG00000095906 104 0 0 69 32 31.6832 PKD1P5 0 genome.wustl.edu 37 16 18478786 18478786 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 18478786 18478786 C T SNP PKD1P5 ENST00000538166 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P5 HGNC ENSG00000254681 8 0 0 14 9 39.1304 KNOP1 0 genome.wustl.edu 37 16 19725742 19725742 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 19725742 19725742 T C SNP KNOP1 ENST00000219837 human ensembl 74_37 -1 known missense c.616 p.R206G 0.972 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 104 0 0 85 15 15 RPS2 0 genome.wustl.edu 37 16 2012899 2012899 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2012899 2012899 A G SNP RPS2 ENST00000343262 human ensembl 74_37 -1 known silent c.387 p.A129 1.000 pfam_Ribosomal_S5_N,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc - no_errors RPS2 HGNC ENSG00000140988 76 0 0 70 4 5.40541 TBL3 0 genome.wustl.edu 37 16 2024398 2024398 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2024398 2024398 G T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.211 p.A71S 0.927 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 305 0 0 205 70 25.4545 UMOD 0 genome.wustl.edu 37 16 20360287 20360287 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 20360287 20360287 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known silent c.435 p.C145 0.170 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 14 0 0 10 5 33.3333 PDILT 0 genome.wustl.edu 37 16 20410548 20410548 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 20410548 20410548 G A SNP PDILT ENST00000302451 human ensembl 74_37 -1 known silent c.75 p.N25 0.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 167 0 0 174 10 5.43478 ACSM2A 0 genome.wustl.edu 37 16 20477014 20477014 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 20477014 20477014 A G SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.353 p.E118G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 52 0 0 41 12 22.6415 THUMPD1 0 genome.wustl.edu 37 16 20752923 20752923 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 20752923 20752923 G T SNP THUMPD1 ENST00000431224 human ensembl 74_37 -1 known missense c.397 p.L133I 1.000 NULL pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD1 HGNC ENSG00000066654 10 0 0 8 3 27.2727 DNAH3 0 genome.wustl.edu 37 16 20944658 20944658 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 20944658 20944658 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.12169 p.A4057T 0.981 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 141 0 0 100 21 17.3554 DNAH3 0 genome.wustl.edu 37 16 21038347 21038347 + Splice_Site SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 21038347 21038347 A C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known splice_site c.5540+2 e38+2 1.000 - - - no_errors DNAH3 HGNC ENSG00000158486 41 0 0 34 5 12.8205 DNAH3 0 genome.wustl.edu 37 16 21049197 21049197 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 21049197 21049197 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4836 p.A1612 0.836 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 47 0 0 45 4 8.16327 TSC2 0 genome.wustl.edu 37 16 2127694 2127694 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2127694 2127694 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.2933 p.R978H 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 123 0 0 79 36 31.3043 PKD1 0 genome.wustl.edu 37 16 2155908 2155908 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2155908 2155908 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.7821 p.H2607 0.769 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 63 0 0 42 41 49.3976 PKD1 0 genome.wustl.edu 37 16 2164302 2164302 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2164302 2164302 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.2722 p.V908M 0.000 pfam_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 55 0 0 29 14 32.5581 OTOA 0 genome.wustl.edu 37 16 21716605 21716605 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 21716605 21716605 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.1138 p.V380I 0.616 NULL NULL - no_errors OTOA HGNC ENSG00000155719 98 0 0 67 16 19.2771 USP31 0 genome.wustl.edu 37 16 23079695 23079695 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 23079695 23079695 A C SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3731 p.L1244R 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 278 0 0 181 58 24.2678 ABCA3 0 genome.wustl.edu 37 16 2349473 2349473 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2349473 2349473 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.1672 p.E558K 0.998 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 163 0 0 148 10 6.32911 PALB2 0 genome.wustl.edu 37 16 23641270 23641270 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 23641270 23641270 T C SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known silent c.2205 p.P735 0.808 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 96 0 0 57 26 31.3253 TNRC6A 0 genome.wustl.edu 37 16 24788440 24788440 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 24788440 24788440 C A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.350 p.P117Q 0.051 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 106 0 0 89 12 11.8812 TNRC6A 0 genome.wustl.edu 37 16 24805922 24805922 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 24805922 24805922 G T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3410 p.R1137L 1.000 pfam_Argonaute_hook_dom pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 63 0 0 67 6 8.21918 CCNF 0 genome.wustl.edu 37 16 2503500 2503500 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2503500 2503500 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.1677 p.H559 0.141 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 93 0 0 50 22 30.5556 AMDHD2 0 genome.wustl.edu 37 16 2578060 2578060 + Splice_Site SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2578060 2578060 G T SNP AMDHD2 ENST00000413459 human ensembl 74_37 +1 known splice_site c.629-1 e6-1 1.000 - - - no_errors AMDHD2 HGNC ENSG00000162066 126 0 0 129 17 11.6438 IL4R 0 genome.wustl.edu 37 16 27374237 27374237 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 27374237 27374237 C T SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.1564 p.H522Y 0.000 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 114 0 0 65 22 25.2874 GTF3C1 0 genome.wustl.edu 37 16 27476039 27476039 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 27476039 27476039 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5474 p.A1825V 0.001 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 75 0 0 48 24 33.3333 SH2B1 0 genome.wustl.edu 37 16 28878287 28878287 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 28878287 28878287 G A SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.872 p.R291H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 66 0 0 48 16 25 CD19 0 genome.wustl.edu 37 16 28944726 28944726 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 28944726 28944726 C T SNP CD19 ENST00000538922 human ensembl 74_37 +1 known missense c.731 p.T244M 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 58 0 0 64 5 7.24638 SPNS1 0 genome.wustl.edu 37 16 28993318 28993318 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 28993318 28993318 C T SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known silent c.906 p.R302 0.732 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 60 0 0 56 12 17.6471 SPNS1 0 genome.wustl.edu 37 16 28995158 28995158 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 28995158 28995158 C T SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known missense c.1372 p.R458W 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 153 0 0 89 39 30.4688 NPIPB11 0 genome.wustl.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29415043 29415043 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative silent c.81 p.H27 0.821 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 17 0 0 16 3 15.7895 MAZ 0 genome.wustl.edu 37 16 29821429 29821429 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29821429 29821429 A G SNP MAZ ENST00000563402 human ensembl 74_37 +1 novel splice_site c.282-2 e3-2 0.019 - - - no_errors MAZ HGNC ENSG00000103495 50 0 0 46 20 30.303 ENSG00000261690 0 genome.wustl.edu 37 16 29830842 29830842 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29830842 29830842 T C SNP ENSG00000261690 ENST00000564980 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009133.12 Clone_based_vega_gene ENSG00000261690 164 0 0 138 51 26.9841 MVP 0 genome.wustl.edu 37 16 29845333 29845333 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29845333 29845333 C T SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.523 p.R175W 1.000 pfam_Vault_N pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 63 0 0 53 24 31.1688 MVP 0 genome.wustl.edu 37 16 29847044 29847044 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29847044 29847044 C T SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.597 p.T199 0.013 pfam_Vault_N pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 47 0 0 26 10 27.7778 FLYWCH1 0 genome.wustl.edu 37 16 2988286 2988286 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2988286 2988286 G C SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.2026 p.V676L 1.000 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 40 0 0 30 11 26.8293 ITGAL 0 genome.wustl.edu 37 16 30486631 30486631 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30486631 30486631 A G SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.169 p.I57V 0.783 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 122 0 0 79 40 33.6134 ZNF785 0 genome.wustl.edu 37 16 30594513 30594513 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30594513 30594513 C T SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known missense c.586 p.G196R 0.004 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 ZNF785 HGNC ENSG00000197162 89 0 0 73 8 9.87654 CLDN9 0 genome.wustl.edu 37 16 3063378 3063378 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3063378 3063378 C A SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.15 p.G5 0.993 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 54 0 0 52 10 16.129 CLDN9 0 genome.wustl.edu 37 16 3063462 3063462 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3063462 3063462 C T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.99 p.T33 0.997 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 110 0 0 77 29 27.3585 FBRS 0 genome.wustl.edu 37 16 30671238 30671238 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30671238 30671238 G T SNP FBRS ENST00000356166 human ensembl 74_37 +1 known missense c.399 p.E133D 0.997 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 8 0 0 6 4 40 SRCAP 0 genome.wustl.edu 37 16 30723043 30723043 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30723043 30723043 G T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.1470 p.Q490H 0.048 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 139 0 0 114 14 10.9375 SRCAP 0 genome.wustl.edu 37 16 30727671 30727671 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30727671 30727671 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.2688 p.Q896 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 385 1 0.259067 271 41 13.141 RNF40 0 genome.wustl.edu 37 16 30779269 30779269 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30779269 30779269 A G SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.1484 p.H495R 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 153 0 0 87 32 26.8908 ZNF629 0 genome.wustl.edu 37 16 30795244 30795244 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 30795244 30795244 C T SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.405 p.L135 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 29 0 0 23 7 23.3333 ZNF646 0 genome.wustl.edu 37 16 31089161 31089161 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 31089161 31089161 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.1516 p.A506T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 49 0 0 37 24 39.3443 ZNF646 0 genome.wustl.edu 37 16 31091608 31091608 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 31091608 31091608 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known silent c.3963 p.H1321 0.515 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 58 0 0 40 21 34.4262 ZNF646 0 genome.wustl.edu 37 16 31092372 31092372 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 31092372 31092372 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.4727 p.S1576N 0.008 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 137 0 0 86 31 26.4957 ZNF646 0 genome.wustl.edu 37 16 31092982 31092982 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 31092982 31092982 C G SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.5337 p.H1779Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 61 0 0 43 15 25.8621 PRSS36 0 genome.wustl.edu 37 16 31152924 31152924 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 31152924 31152924 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known silent c.1767 p.G589 0.998 pirsf_Pept_S1A_polyserase-2,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 74 0 0 76 6 7.31707 ITGAM 0 genome.wustl.edu 37 16 31343009 31343009 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 31343009 31343009 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.3443 p.P1148L 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 13 0 0 15 12 44.4444 TIGD7 0 genome.wustl.edu 37 16 3350247 3350247 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3350247 3350247 G A SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.368 p.T123I 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 100 0 0 60 31 34.0659 ZNF597 0 genome.wustl.edu 37 16 3493136 3493136 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3493136 3493136 C T SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known silent c.18 p.P6 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 63 0 0 57 23 28.75 SLX4 0 genome.wustl.edu 37 16 3652117 3652117 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3652117 3652117 A G SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known splice_site c.950+2 e3+2 0.991 - - - no_errors SLX4 HGNC ENSG00000188827 67 0 0 54 18 25 SLX4 0 genome.wustl.edu 37 16 3656674 3656674 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3656674 3656674 C A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.561 p.Q187H 0.002 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 146 0 0 129 7 5.14706 TRAP1 0 genome.wustl.edu 37 16 3726065 3726065 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3726065 3726065 C A SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.786 p.K262N 0.253 superfamily_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N 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 93 0 0 50 14 21.875 CREBBP 0 genome.wustl.edu 37 16 3795299 3795299 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3795299 3795299 T C SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3893 p.Y1298C 1.000 superfamily_Znf_FYVE_PHD pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 40 0 0 28 9 24.3243 CREBBP 0 genome.wustl.edu 37 16 3799628 3799628 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3799628 3799628 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3836 p.P1279L 1.000 superfamily_Znf_FYVE_PHD pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 22 0 0 9 6 40 CREBBP 0 genome.wustl.edu 37 16 3820945 3820945 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3820945 3820945 G T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2506 p.L836M 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 100 0 0 103 25 19.5312 CREBBP 0 genome.wustl.edu 37 16 3824574 3824574 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 3824574 3824574 G T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2279 p.P760Q 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 109 0 0 101 7 6.48148 ADCY9 0 genome.wustl.edu 37 16 4027532 4027532 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 4027532 4027532 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2779 p.V927M 0.867 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 24 0 0 13 6 31.5789 TMEM8A 0 genome.wustl.edu 37 16 425374 425374 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 425374 425374 C T SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.1286 p.G429D 0.844 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 106 0 0 91 27 22.8814 CORO7-PAM16 0 genome.wustl.edu 37 16 4412678 4412678 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 4412678 4412678 G T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1337 p.P446H 0.999 NULL pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 60 0 0 35 12 25.5319 C16orf96 0 genome.wustl.edu 37 16 4650137 4650137 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 4650137 4650137 C T SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.3245 p.S1082L 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 12 0 0 4 4 50 GPT2 0 genome.wustl.edu 37 16 46943701 46943701 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 46943701 46943701 G A SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 86 0 0 79 29 26.8519 MGRN1 0 genome.wustl.edu 37 16 4731615 4731615 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 4731615 4731615 G A SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.1196 p.R399Q 0.976 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 75 0 0 59 4 6.34921 ITFG1 0 genome.wustl.edu 37 16 47409816 47409816 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 47409816 47409816 T C SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.691 p.T231A 0.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 17 0 0 32 4 11.1111 ZNF423 0 genome.wustl.edu 37 16 49671548 49671548 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 49671548 49671548 G T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.1515 p.G505 0.975 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 72 0 0 73 27 27 ZNF423 0 genome.wustl.edu 37 16 49764730 49764730 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 49764730 49764730 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.229 p.E77K 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 140 0 0 78 28 26.4151 ZNF423 0 genome.wustl.edu 37 16 49823441 49823441 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 49823441 49823441 G T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.33 p.A11 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 52 0 0 29 8 21.6216 PAPD5 0 genome.wustl.edu 37 16 50259111 50259111 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 50259111 50259111 C T SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known missense c.1670 p.S557L 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 41 0 0 21 3 12.5 SEC14L5 0 genome.wustl.edu 37 16 5064915 5064915 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 5064915 5064915 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.2035 p.A679T 0.124 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 98 0 0 104 9 7.9646 SALL1 0 genome.wustl.edu 37 16 51175621 51175621 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 51175621 51175621 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.512 p.A171V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 70 0 0 51 24 32 SALL1 0 genome.wustl.edu 37 16 51175655 51175655 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 51175655 51175655 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.478 p.G160S 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 58 0 0 52 6 10.3448 TOX3 0 genome.wustl.edu 37 16 52473331 52473331 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 52473331 52473331 G A SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.1537 p.R513C 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 19 0 0 9 3 25 CHD9 0 genome.wustl.edu 37 16 53337974 53337974 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 53337974 53337974 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.6056 p.Y2019C 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 96 0 0 94 5 5.05051 IRX5 0 genome.wustl.edu 37 16 54965339 54965339 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 54965339 54965339 G A SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.229 p.A77T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 16 0 0 24 4 14.2857 IRX6 0 genome.wustl.edu 37 16 55360397 55360397 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 55360397 55360397 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known silent c.195 p.G65 0.965 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 20 0 0 13 7 35 MMP2 0 genome.wustl.edu 37 16 55519616 55519616 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 55519616 55519616 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.759 p.S253 0.095 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 158 0 0 117 34 22.5166 MMP2 0 genome.wustl.edu 37 16 55523700 55523700 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 55523700 55523700 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.1144 p.D382N 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 75 0 0 59 7 10.6061 SLC6A2 0 genome.wustl.edu 37 16 55705783 55705783 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 55705783 55705783 A G SNP SLC6A2 ENST00000567238 human ensembl 74_37 +1 putative missense c.25 p.T9A 0.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 26 0 0 17 5 22.7273 SLC6A2 0 genome.wustl.edu 37 16 55719063 55719063 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 55719063 55719063 T C SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.653 p.V218A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 40 0 0 28 13 31.7073 CES1 0 genome.wustl.edu 37 16 55866923 55866923 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 55866923 55866923 C T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known silent c.45 p.A15 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 82 0 0 70 16 18.6047 NUP93 0 genome.wustl.edu 37 16 56782280 56782280 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 56782280 56782280 G T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known nonsense c.121 p.E41* 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 52 0 0 47 7 12.963 CETP 0 genome.wustl.edu 37 16 57004961 57004961 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57004961 57004961 C T SNP CETP ENST00000200676 human ensembl 74_37 +1 known nonsense c.544 p.Q182* 0.099 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 58 0 0 52 11 17.4603 NLRC5 0 genome.wustl.edu 37 16 57059400 57059400 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57059400 57059400 G A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.545 p.R182H 0.743 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 178 0 0 132 72 35.2941 RSPRY1 0 genome.wustl.edu 37 16 57255240 57255240 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57255240 57255240 C T SNP RSPRY1 ENST00000394420 human ensembl 74_37 +1 known silent c.1074 p.A358 0.834 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 124 0 0 121 7 5.46875 ARL2BP 0 genome.wustl.edu 37 16 57282448 57282448 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57282448 57282448 G A SNP ARL2BP ENST00000219204 human ensembl 74_37 +1 known splice_site c.101-1 e3-1 1.000 - - - no_errors ARL2BP HGNC ENSG00000102931 60 0 0 48 4 7.69231 CIAPIN1 0 genome.wustl.edu 37 16 57465112 57465112 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57465112 57465112 G A SNP CIAPIN1 ENST00000394391 human ensembl 74_37 -1 known missense c.697 p.R233W 0.959 pfam_Anamorsin pfam_Anamorsin - no_errors CIAPIN1 HGNC ENSG00000005194 136 0 0 120 7 5.51181 CCDC102A 0 genome.wustl.edu 37 16 57549292 57549292 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57549292 57549292 C A SNP CCDC102A ENST00000258214 human ensembl 74_37 -1 known missense c.1484 p.S495I 0.978 NULL NULL - no_errors CCDC102A HGNC ENSG00000135736 26 0 0 8 8 50 KIFC3 0 genome.wustl.edu 37 16 57803606 57803606 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57803606 57803606 C T SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known silent c.1119 p.P373 0.036 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 43 0 0 42 4 8.69565 CNGB1 0 genome.wustl.edu 37 16 57918077 57918077 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57918077 57918077 C A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3747 p.K1249N 0.090 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 177 0 0 134 10 6.94444 CNGB1 0 genome.wustl.edu 37 16 57951309 57951309 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 57951309 57951309 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.2029 p.R677C 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 117 0 0 100 7 6.54206 ZNF319 0 genome.wustl.edu 37 16 58030907 58030907 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 58030907 58030907 G A SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known silent c.1263 p.P421 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 65 0 0 74 7 8.64198 GINS3 0 genome.wustl.edu 37 16 58438451 58438451 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 58438451 58438451 T A SNP GINS3 ENST00000426538 human ensembl 74_37 +1 known missense c.586 p.Y196N 1.000 pfam_GINS_complex pfam_GINS_complex - no_errors GINS3 HGNC ENSG00000181938 76 0 0 42 21 33.3333 CNOT1 0 genome.wustl.edu 37 16 58594174 58594174 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 58594174 58594174 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.2072 p.V691A 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 85 0 0 73 7 8.75 CNOT1 0 genome.wustl.edu 37 16 58620474 58620474 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 58620474 58620474 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.612 p.D204 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 285 0 0 162 58 26.3636 SLC38A7 0 genome.wustl.edu 37 16 58713974 58713974 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 58713974 58713974 G A SNP SLC38A7 ENST00000219320 human ensembl 74_37 -1 known silent c.57 p.A19 0.023 NULL pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 52 0 0 36 15 29.4118 PIGQ 0 genome.wustl.edu 37 16 624400 624400 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 624400 624400 C T SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.326 p.A109V 0.327 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 27 0 0 17 4 19.0476 CBFB 0 genome.wustl.edu 37 16 67070635 67070635 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67070635 67070635 G A SNP CBFB ENST00000290858 human ensembl 74_37 +1 known missense c.259 p.D87N 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 84 0 0 71 18 20.2247 FHOD1 0 genome.wustl.edu 37 16 67271633 67271633 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67271633 67271633 C T SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known silent c.681 p.L227 0.996 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 140 0 0 120 8 6.25 ATP6V0D1 0 genome.wustl.edu 37 16 67477019 67477019 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67477019 67477019 G A SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known missense c.544 p.R182C 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 135 0 0 114 32 21.9178 FAM65A 0 genome.wustl.edu 37 16 67576573 67576573 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67576573 67576573 T C SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known silent c.1944 p.S648 0.001 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 305 1 0.326797 167 47 21.9626 RLTPR 0 genome.wustl.edu 37 16 67683419 67683419 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67683419 67683419 G A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.1816 p.A606T 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 72 0 0 50 10 16.6667 PARD6A 0 genome.wustl.edu 37 16 67695812 67695812 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67695812 67695812 C T SNP PARD6A ENST00000219255 human ensembl 74_37 +1 known silent c.303 p.S101 0.192 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6A HGNC ENSG00000102981 150 0 0 81 23 22.1154 EDC4 0 genome.wustl.edu 37 16 67912273 67912273 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67912273 67912273 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.1015 p.E339K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 151 0 0 163 9 5.23256 SLC12A4 0 genome.wustl.edu 37 16 67979106 67979106 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67979106 67979106 C A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.3056 p.R1019L 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 125 0 0 92 23 20 PRMT7 0 genome.wustl.edu 37 16 68371434 68371434 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 68371434 68371434 C T SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known missense c.464 p.A155V 0.996 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 76 0 0 80 6 6.97674 CDH1 0 genome.wustl.edu 37 16 68853293 68853293 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 68853293 68853293 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.1676 p.S559N 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 85 0 0 41 20 32.7869 TANGO6 0 genome.wustl.edu 37 16 68877538 68877538 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 68877538 68877538 C A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known silent c.18 p.A6 0.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 158 0 0 163 25 13.2979 TANGO6 0 genome.wustl.edu 37 16 68936256 68936256 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 68936256 68936256 T C SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.1516 p.W506R 1.000 pfam_DUF2435,superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 54 0 0 48 21 30.4348 TERF2 0 genome.wustl.edu 37 16 69402283 69402283 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 69402283 69402283 C T SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.943 p.A315T 0.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 39 0 0 31 7 18.4211 NQO1 0 genome.wustl.edu 37 16 69752129 69752129 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 69752129 69752129 T G SNP NQO1 ENST00000320623 human ensembl 74_37 -1 known missense c.200 p.Q67P 0.979 pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO1 HGNC ENSG00000181019 164 0 0 135 41 23.2955 CLEC18C 0 genome.wustl.edu 37 16 70211270 70211270 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70211270 70211270 G A SNP CLEC18C ENST00000314151 human ensembl 74_37 +1 known missense c.343 p.A115T 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CLEC18C HGNC ENSG00000157335 42 0 0 24 12 33.3333 AARS 0 genome.wustl.edu 37 16 70294991 70294991 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70294991 70294991 C T SNP AARS ENST00000261772 human ensembl 74_37 -1 known missense c.1741 p.G581S 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 56 0 0 36 21 36.8421 ST3GAL2 0 genome.wustl.edu 37 16 70428933 70428933 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70428933 70428933 C T SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.485 p.R162Q 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 224 0 0 167 77 31.5574 SF3B3 0 genome.wustl.edu 37 16 70597914 70597914 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70597914 70597914 T C SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known silent c.2424 p.T808 0.878 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 93 0 0 111 6 5.12821 MTSS1L 0 genome.wustl.edu 37 16 70698263 70698263 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70698263 70698263 T C SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.1561 p.S521G 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 38 0 0 27 11 28.9474 HYDIN 0 genome.wustl.edu 37 16 70913316 70913316 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70913316 70913316 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.10441 p.R3481W 0.940 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 50 0 0 38 11 22.449 ZNF821 0 genome.wustl.edu 37 16 71898146 71898146 + Splice_Site SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 71898146 71898146 C A SNP ZNF821 ENST00000425432 human ensembl 74_37 -1 known splice_site c.313-1 e4-1 1.000 - - - no_errors ZNF821 HGNC ENSG00000102984 79 0 0 55 16 22.5352 ZFHX3 0 genome.wustl.edu 37 16 72821566 72821566 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 72821566 72821566 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.10609 p.A3537T 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 212 0 0 168 11 6.14525 ZFHX3 0 genome.wustl.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 72821615 72821615 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.10560 p.G3520 0.081 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 52 0 0 71 11 13.4146 ZFHX3 0 genome.wustl.edu 37 16 72829504 72829504 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 72829504 72829504 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.7077 p.G2359 0.988 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 156 0 0 98 33 25.1908 ZFHX3 0 genome.wustl.edu 37 16 72831385 72831385 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 72831385 72831385 T C SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.5196 p.Q1732 0.953 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 34 0 0 33 8 19.5122 ZFHX3 0 genome.wustl.edu 37 16 72831705 72831705 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 72831705 72831705 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.4876 p.A1626T 1.000 smart_Znf_U1 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 58 0 0 52 14 21.2121 LDHD 0 genome.wustl.edu 37 16 75149237 75149237 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 75149237 75149237 C T SNP LDHD ENST00000300051 human ensembl 74_37 -1 known silent c.186 p.R62 1.000 superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 171 0 0 165 15 8.33333 ZFP1 0 genome.wustl.edu 37 16 75203207 75203207 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 75203207 75203207 G A SNP ZFP1 ENST00000393430 human ensembl 74_37 +1 known missense c.199 p.A67T 0.001 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP1 HGNC ENSG00000184517 66 0 0 56 18 24.3243 CHST6 0 genome.wustl.edu 37 16 75512651 75512651 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 75512651 75512651 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.1076 p.R359Q 1.000 superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 73 0 0 82 5 5.74713 CCDC78 0 genome.wustl.edu 37 16 774503 774503 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 774503 774503 C T SNP CCDC78 ENST00000293889 human ensembl 74_37 -1 known missense c.772 p.A258T 0.000 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 31 0 0 24 13 35.1351 NARFL 0 genome.wustl.edu 37 16 780637 780637 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 780637 780637 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known missense c.1211 p.G404D 0.992 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 67 0 0 51 16 23.8806 WWOX 0 genome.wustl.edu 37 16 78198170 78198170 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 78198170 78198170 G A SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.500 p.R167H 0.994 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 29 0 0 30 12 28.5714 NARFL 0 genome.wustl.edu 37 16 787120 787120 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 787120 787120 A G SNP NARFL ENST00000567455 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC ENSG00000103245 69 0 0 42 23 35.3846 ATMIN 0 genome.wustl.edu 37 16 81075942 81075942 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 81075942 81075942 G A SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known silent c.519 p.S173 0.008 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 121 0 0 84 46 35.3846 GAN 0 genome.wustl.edu 37 16 81388220 81388220 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 81388220 81388220 A G SNP GAN ENST00000568107 human ensembl 74_37 +1 known missense c.493 p.S165G 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 118 0 0 88 23 20.7207 IRF8 0 genome.wustl.edu 37 16 85946833 85946833 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 85946833 85946833 C T SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known missense c.544 p.P182S 0.833 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 86 0 0 80 10 11.1111 CA5A 0 genome.wustl.edu 37 16 87969966 87969966 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 87969966 87969966 C G SNP CA5A ENST00000309893 human ensembl 74_37 -1 known missense c.91 p.G31R 0.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5A HGNC ENSG00000174990 173 0 0 101 36 26.2774 ZC3H18 0 genome.wustl.edu 37 16 88643661 88643661 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 88643661 88643661 A G SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.130 p.R44G 0.001 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 36 0 0 42 15 26.3158 ZC3H18 0 genome.wustl.edu 37 16 88675395 88675395 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 88675395 88675395 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1142 p.R381H 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 113 0 0 87 14 13.8614 CDT1 0 genome.wustl.edu 37 16 88871997 88871997 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 88871997 88871997 C T SNP CDT1 ENST00000301019 human ensembl 74_37 +1 known missense c.638 p.T213M 0.998 pfam_CDT1_Gemini-bd-like pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 106 1 0.934579 74 25 25.2525 ENSG00000261546 0 genome.wustl.edu 37 16 89180697 89180697 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89180697 89180697 C T SNP ENSG00000261546 ENST00000562782 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2555A7.3 Clone_based_vega_gene ENSG00000261546 65 0 0 51 13 20.3125 ZNF778 0 genome.wustl.edu 37 16 89293211 89293211 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89293211 89293211 G A SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known missense c.431 p.S144N 0.000 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 ZNF778 HGNC ENSG00000170100 53 0 0 52 15 22.3881 ZNF778 0 genome.wustl.edu 37 16 89293704 89293704 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89293704 89293704 C A SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known silent c.924 p.P308 0.014 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 ZNF778 HGNC ENSG00000170100 64 0 0 33 7 17.5 ANKRD11 0 genome.wustl.edu 37 16 89348269 89348269 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89348269 89348269 G T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4681 p.P1561T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 68 0 0 51 6 10.5263 ANKRD11 0 genome.wustl.edu 37 16 89350090 89350090 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89350090 89350090 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.2860 p.A954T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 187 0 0 161 15 8.52273 ANKRD11 0 genome.wustl.edu 37 16 89357036 89357036 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89357036 89357036 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.598 p.A200T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 71 0 0 45 25 35.7143 DPEP1 0 genome.wustl.edu 37 16 89703696 89703696 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89703696 89703696 C T SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known silent c.676 p.L226 0.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 89 0 0 54 19 26.0274 SPATA33 0 genome.wustl.edu 37 16 89735849 89735849 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89735849 89735849 C A SNP SPATA33 ENST00000579310 human ensembl 74_37 +1 known silent c.367 p.R123 0.001 NULL NULL - no_errors SPATA33 HGNC ENSG00000167523 101 0 0 84 5 5.61798 SPATA2L 0 genome.wustl.edu 37 16 89764416 89764416 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89764416 89764416 G A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known nonsense c.601 p.Q201* 0.999 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 40 0 0 33 2 5.71429 SPATA2L 0 genome.wustl.edu 37 16 89764597 89764597 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89764597 89764597 G A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known silent c.420 p.T140 0.000 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 184 0 0 110 60 35.2941 ZNF276 0 genome.wustl.edu 37 16 89804288 89804288 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89804288 89804288 C T SNP ZNF276 ENST00000443381 human ensembl 74_37 +1 known nonsense c.1549 p.R517* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 107 0 0 101 7 6.48148 TCF25 0 genome.wustl.edu 37 16 89977610 89977610 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89977610 89977610 C T SNP TCF25 ENST00000263347 human ensembl 74_37 +1 known nonsense c.1408 p.R470* 0.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 85 0 0 67 21 23.8636 USP7 0 genome.wustl.edu 37 16 8998333 8998333 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 8998333 8998333 G A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.1663 p.R555W 1.000 pfam_USP7_ICP0-binding_dom pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 69 0 0 75 6 7.40741 GAS8 0 genome.wustl.edu 37 16 90097699 90097699 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 90097699 90097699 C A SNP GAS8 ENST00000565062 human ensembl 74_37 +1 known silent c.192 p.T64 0.002 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 43 0 0 42 5 10.6383 TUBB8P7 0 genome.wustl.edu 37 16 90161110 90161110 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 90161110 90161110 G A SNP TUBB8P7 ENST00000563927 human ensembl 74_37 +1 known rna NULL NULL 0.251 - - - no_errors TUBB8P7 HGNC ENSG00000261812 15 0 0 14 7 33.3333 GRIN2A 0 genome.wustl.edu 37 16 9858573 9858573 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 9858573 9858573 T C SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.2828 p.Y943C 0.994 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 141 0 0 139 9 6.08108 MYH8 0 genome.wustl.edu 37 17 10299956 10299956 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 10299956 10299956 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.4442 p.S1481N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 62 0 0 50 18 26.4706 MYH4 0 genome.wustl.edu 37 17 10355562 10355562 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 10355562 10355562 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.3434 p.R1145Q 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 164 0 0 87 24 21.6216 MYH4 0 genome.wustl.edu 37 17 10363367 10363367 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 10363367 10363367 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.1318 p.L440M 1.000 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,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 225 0 0 131 35 21.0843 MYH3 0 genome.wustl.edu 37 17 10546157 10546157 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 10546157 10546157 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.1567 p.E523K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_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 MYH3 HGNC ENSG00000109063 162 0 0 86 32 27.1186 MAP2K4 0 genome.wustl.edu 37 17 11984782 11984782 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 11984782 11984782 C T SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known nonsense c.361 p.R121* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K4 HGNC ENSG00000065559 49 0 0 47 4 7.84314 HS3ST3B1 0 genome.wustl.edu 37 17 14205042 14205042 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 14205042 14205042 C T SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known silent c.207 p.R69 0.989 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 22 0 0 31 10 24.3902 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 63 0 0 71 13 15.4762 NCOR1 0 genome.wustl.edu 37 17 16040642 16040642 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 16040642 16040642 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1492 p.R498C 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 16 0 0 26 2 7.14286 PIGL 0 genome.wustl.edu 37 17 16120706 16120706 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 16120706 16120706 T A SNP PIGL ENST00000225609 human ensembl 74_37 +1 known missense c.166 p.F56I 1.000 pfam_GlcNAc_PI_deacetylase-related,superfamily_LmbE-like_dom pfam_GlcNAc_PI_deacetylase-related,superfamily_LmbE-like_dom - no_errors PIGL HGNC ENSG00000108474 117 0 0 119 8 6.29921 SMYD4 0 genome.wustl.edu 37 17 1686367 1686367 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 1686367 1686367 G A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.2223 p.G741 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 101 0 0 71 23 24.4681 MPRIP 0 genome.wustl.edu 37 17 17061916 17061916 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 17061916 17061916 G A SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.1646 p.R549H 1.000 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 26 0 0 14 4 22.2222 RAI1 0 genome.wustl.edu 37 17 17698232 17698232 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 17698232 17698232 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1970 p.A657V 0.004 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 87 0 0 62 30 32.6087 SREBF1 0 genome.wustl.edu 37 17 17722388 17722388 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 17722388 17722388 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1097 p.R366H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 113 0 0 60 31 34.0659 SREBF1 0 genome.wustl.edu 37 17 17723598 17723598 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 17723598 17723598 T C SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.419 p.Y140C 0.007 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 116 0 0 80 6 6.97674 MYO15A 0 genome.wustl.edu 37 17 18043861 18043861 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 18043861 18043861 C A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.5242 p.P1748T 0.991 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 236 1 0.421941 124 62 33.3333 FLII 0 genome.wustl.edu 37 17 18156768 18156768 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 18156768 18156768 G A SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.860 p.A287V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 96 0 0 81 18 18.1818 ALDH3A1 0 genome.wustl.edu 37 17 19644480 19644480 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 19644480 19644480 C T SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.733 p.V245M 0.995 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 65 0 0 47 4 7.84314 ALDH3A1 0 genome.wustl.edu 37 17 19645402 19645402 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 19645402 19645402 T C SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.604 p.K202E 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 79 0 0 70 9 11.3924 SMG6 0 genome.wustl.edu 37 17 1985165 1985165 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 1985165 1985165 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.3620 p.A1207V 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 101 0 0 81 10 10.989 FAM27L 0 genome.wustl.edu 37 17 21826269 21826269 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 21826269 21826269 G A SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors FAM27L HGNC ENSG00000178130 55 0 0 34 7 17.0732 SMG6 0 genome.wustl.edu 37 17 2186003 2186003 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 2186003 2186003 C A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.2599 p.G867C 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 135 0 0 76 36 32.1429 SGSM2 0 genome.wustl.edu 37 17 2280072 2280072 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 2280072 2280072 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.2655 p.C885 0.986 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 181 0 0 207 13 5.90909 CLUH 0 genome.wustl.edu 37 17 2601770 2601770 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 2601770 2601770 T C SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.1267 p.N423D 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 45 0 0 34 13 27.6596 NLK 0 genome.wustl.edu 37 17 26370248 26370248 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 26370248 26370248 G A SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.349 p.A117T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 88 0 0 83 19 18.6275 SPAG5 0 genome.wustl.edu 37 17 26906497 26906497 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 26906497 26906497 G T SNP SPAG5 ENST00000321765 human ensembl 74_37 -1 known missense c.2891 p.P964Q 0.374 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 111 0 0 67 24 26.3736 KIAA0100 0 genome.wustl.edu 37 17 26959181 26959181 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 26959181 26959181 A G SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.3882 p.S1294 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 125 0 0 126 7 5.26316 SUPT6H 0 genome.wustl.edu 37 17 27013703 27013703 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 27013703 27013703 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.2596 p.R866C 1.000 smart_YqgF/RNaseH-like_dom,pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 97 0 0 103 11 9.64912 RAB34 0 genome.wustl.edu 37 17 27043061 27043061 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 27043061 27043061 C A SNP RAB34 ENST00000447716 human ensembl 74_37 -1 known missense c.333 p.K111N 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB34 HGNC ENSG00000109113 104 0 0 70 10 12.5 PHF12 0 genome.wustl.edu 37 17 27234620 27234620 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 27234620 27234620 T C SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.2529 p.I843M 0.987 superfamily_SMAD_FHA_domain,pfscan_FHA_dom pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 60 0 0 38 24 38.7097 PIPOX 0 genome.wustl.edu 37 17 27380463 27380463 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 27380463 27380463 T C SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known silent c.510 p.R170 0.068 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 131 0 0 109 7 6.03448 SSH2 0 genome.wustl.edu 37 17 27957940 27957940 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 27957940 27957940 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.4191 p.H1397 0.345 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 183 0 0 118 41 25.7862 SSH2 0 genome.wustl.edu 37 17 27963136 27963136 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 27963136 27963136 C A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.2031 p.E677D 0.993 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 136 0 0 109 12 9.91736 BLMH 0 genome.wustl.edu 37 17 28601209 28601209 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 28601209 28601209 G A SNP BLMH ENST00000261714 human ensembl 74_37 -1 known nonsense c.652 p.R218* 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 57 0 0 52 16 23.5294 CPD 0 genome.wustl.edu 37 17 28772965 28772965 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 28772965 28772965 C A SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.2800 p.H934N 1.000 smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 60 0 0 34 20 37.037 ATAD5 0 genome.wustl.edu 37 17 29161690 29161690 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 29161690 29161690 C A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known silent c.591 p.T197 0.015 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 114 0 0 74 25 25.2525 NF1 0 genome.wustl.edu 37 17 29654857 29654857 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 29654857 29654857 G A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.5609 p.R1870Q 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 57 0 0 39 8 17.0213 MYO1D 0 genome.wustl.edu 37 17 30980865 30980865 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 30980865 30980865 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.2591 p.R864H 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 19 0 0 24 5 17.2414 OR1A1 0 genome.wustl.edu 37 17 3119158 3119158 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 3119158 3119158 C T SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known silent c.244 p.L82 0.636 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 108 1 0.917431 71 27 27.551 C17orf102 0 genome.wustl.edu 37 17 32905984 32905984 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 32905984 32905984 C T SNP C17orf102 ENST00000357754 human ensembl 74_37 -1 known missense c.316 p.A106T 0.086 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 169 0 0 131 9 6.42857 TMEM132E 0 genome.wustl.edu 37 17 32955600 32955600 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 32955600 32955600 T C SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known silent c.747 p.G249 0.999 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 49 0 0 26 14 35 NLE1 0 genome.wustl.edu 37 17 33460365 33460365 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 33460365 33460365 G A SNP NLE1 ENST00000442241 human ensembl 74_37 -1 known missense c.1367 p.A456V 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 94 0 0 66 18 21.4286 UNC45B 0 genome.wustl.edu 37 17 33496901 33496901 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 33496901 33496901 A G SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.1498 p.R500G 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 103 0 0 49 14 22.2222 SLFN13 0 genome.wustl.edu 37 17 33767971 33767971 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 33767971 33767971 A G SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known silent c.2337 p.I779 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 80 0 0 47 31 39.7436 SLFN12L 0 genome.wustl.edu 37 17 33802054 33802054 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 33802054 33802054 A G SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known missense c.1748 p.L583S 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 17 0 0 11 5 31.25 AP2B1 0 genome.wustl.edu 37 17 33998845 33998845 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 33998845 33998845 A C SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.2104 p.S702R 1.000 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 118 0 0 123 9 6.81818 RASL10B 0 genome.wustl.edu 37 17 34068074 34068074 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 34068074 34068074 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known missense c.362 p.T121M 0.999 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 67 0 0 60 18 23.0769 MMP28 0 genome.wustl.edu 37 17 34095247 34095247 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 34095247 34095247 A G SNP MMP28 ENST00000587639 human ensembl 74_37 -1 known splice_site c.678+2 e5+2 1.000 - - - no_errors MMP28 HGNC ENSG00000129270 51 0 0 41 15 26.7857 MYO19 0 genome.wustl.edu 37 17 34871799 34871799 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 34871799 34871799 G T SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.449 p.A150D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 36 0 0 30 8 21.0526 AATF 0 genome.wustl.edu 37 17 35307639 35307639 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 35307639 35307639 G A SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.217 p.G73S 1.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 52 0 0 48 14 22.5806 ACACA 0 genome.wustl.edu 37 17 35620760 35620760 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 35620760 35620760 A G SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.1157 p.M386T 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 61 0 0 74 7 8.64198 GPR179 0 genome.wustl.edu 37 17 36499264 36499264 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 36499264 36499264 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.409 p.V137M 0.008 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 100 1 0.990099 60 29 32.5843 SRCIN1 0 genome.wustl.edu 37 17 36705305 36705305 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 36705305 36705305 G A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.3104 p.S1035L 0.889 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 39 0 0 28 14 33.3333 RPL23 0 genome.wustl.edu 37 17 37009328 37009328 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 37009328 37009328 C T SNP RPL23 ENST00000479035 human ensembl 74_37 -1 known missense c.44 p.R15Q 1.000 superfamily_Ribosomal_L14_dom pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom - no_errors RPL23 HGNC ENSG00000125691 64 0 0 34 10 22.7273 CACNB1 0 genome.wustl.edu 37 17 37341052 37341052 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 37341052 37341052 C T SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known silent c.714 p.S238 0.983 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 56 0 0 47 22 31.8841 NEUROD2 0 genome.wustl.edu 37 17 37762007 37762007 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 37762007 37762007 G A SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known silent c.846 p.G282 0.994 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 13 0 0 9 6 40 GRB7 0 genome.wustl.edu 37 17 37900454 37900454 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 37900454 37900454 C A SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known silent c.864 p.T288 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 265 0 0 207 33 13.75 IKZF3 0 genome.wustl.edu 37 17 37922387 37922387 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 37922387 37922387 G A SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.1186 p.R396C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 195 0 0 110 31 21.9858 ATP2A3 0 genome.wustl.edu 37 17 3844376 3844376 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 3844376 3844376 G A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known silent c.1989 p.P663 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 128 0 0 85 37 30.3279 KRTAP4-9 0 genome.wustl.edu 37 17 39261720 39261720 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 39261720 39261720 C T SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known missense c.80 p.P27L 0.999 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 93 0 0 61 5 7.57576 KRTAP4-5 0 genome.wustl.edu 37 17 39305582 39305582 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 39305582 39305582 G A SNP KRTAP4-5 ENST00000343246 human ensembl 74_37 -1 known silent c.438 p.C146 0.085 NULL NULL - no_errors KRTAP4-5 HGNC ENSG00000198271 33 0 0 27 4 12.9032 KRTAP9-7 0 genome.wustl.edu 37 17 39432014 39432014 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 39432014 39432014 C T SNP KRTAP9-7 ENST00000391354 human ensembl 74_37 +1 known missense c.65 p.T22I 0.008 NULL NULL - no_errors KRTAP9-7 HGNC ENSG00000180386 46 0 0 39 7 15.2174 ACLY 0 genome.wustl.edu 37 17 40054009 40054009 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 40054009 40054009 C T SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.1422 p.M474I 0.115 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 31 0 0 24 3 11.1111 KCNH4 0 genome.wustl.edu 37 17 40327731 40327731 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 40327731 40327731 T C SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.853 p.T285A 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 163 0 0 121 42 25.7669 AOC2 0 genome.wustl.edu 37 17 41001152 41001152 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 41001152 41001152 T G SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known silent c.1638 p.A546 0.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 64 0 0 37 18 32.7273 AOC4P 0 genome.wustl.edu 37 17 41020737 41020737 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 41020737 41020737 A G SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.870 - - - no_errors AOC4P HGNC ENSG00000260105 33 0 0 21 5 19.2308 BRCA1 0 genome.wustl.edu 37 17 41219626 41219626 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 41219626 41219626 T G SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known silent c.5136 p.T1712 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 42 0 0 32 10 23.8095 DHX8 0 genome.wustl.edu 37 17 41570312 41570312 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 41570312 41570312 G A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.767 p.R256H 0.996 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 107 0 0 94 10 9.61538 ATXN7L3 0 genome.wustl.edu 37 17 42275016 42275016 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 42275016 42275016 C T SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known missense c.134 p.C45Y 1.000 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 195 0 0 134 58 30.2083 EFTUD2 0 genome.wustl.edu 37 17 42928721 42928721 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 42928721 42928721 A G SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.2840 p.V947A 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 146 0 0 132 8 5.71429 EFTUD2 0 genome.wustl.edu 37 17 42942396 42942396 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 42942396 42942396 A C SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.1187 p.L396R 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 110 0 0 54 32 37.2093 FMNL1 0 genome.wustl.edu 37 17 43318961 43318961 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 43318961 43318961 T C SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.1545 p.D515 0.001 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 10 0 0 4 5 55.5556 SPNS3 0 genome.wustl.edu 37 17 4351594 4351594 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4351594 4351594 A G SNP SPNS3 ENST00000355530 human ensembl 74_37 +1 known missense c.766 p.K256E 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 43 0 0 22 10 31.25 PLEKHM1 0 genome.wustl.edu 37 17 43531269 43531269 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 43531269 43531269 G A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.1949 p.A650V 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 65 0 0 80 26 24.5283 KANSL1 0 genome.wustl.edu 37 17 44249240 44249240 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 44249240 44249240 A G SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known silent c.270 p.V90 0.999 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 85 0 0 64 4 5.88235 GGT6 0 genome.wustl.edu 37 17 4461360 4461360 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4461360 4461360 C T SNP GGT6 ENST00000574154 human ensembl 74_37 -1 known missense c.1432 p.A478T 0.633 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 45 0 0 27 7 20.5882 OSBPL7 0 genome.wustl.edu 37 17 45890696 45890696 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 45890696 45890696 G T SNP OSBPL7 ENST00000007414 human ensembl 74_37 -1 known missense c.1673 p.P558H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 76 0 0 55 14 20.2899 TM4SF5 0 genome.wustl.edu 37 17 4686165 4686165 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4686165 4686165 A G SNP TM4SF5 ENST00000270560 human ensembl 74_37 +1 known missense c.412 p.N138D 0.741 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 79 0 0 47 21 30.8824 IGF2BP1 0 genome.wustl.edu 37 17 47075284 47075284 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 47075284 47075284 T C SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known splice_site c.175+2 e1+2 1.000 - - - no_errors IGF2BP1 HGNC ENSG00000159217 90 0 0 84 9 9.67742 PLD2 0 genome.wustl.edu 37 17 4713005 4713005 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4713005 4713005 C T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.634 p.R212C 1.000 smart_Pleckstrin_homology,pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 170 0 0 124 45 26.6272 NXPH3 0 genome.wustl.edu 37 17 47656635 47656635 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 47656635 47656635 T C SNP NXPH3 ENST00000328741 human ensembl 74_37 +1 known silent c.732 p.S244 0.113 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 78 0 0 42 20 32.2581 CHRNE 0 genome.wustl.edu 37 17 4802111 4802111 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4802111 4802111 C T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.1402 p.V468M 0.045 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 20 0 0 11 8 42.1053 CHRNE 0 genome.wustl.edu 37 17 4802326 4802326 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4802326 4802326 C A SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.1296 p.E432D 0.989 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 30 0 0 14 5 26.3158 CHRNE 0 genome.wustl.edu 37 17 4804095 4804095 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4804095 4804095 G T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.910 p.L304M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 34 0 0 44 4 8.33333 COL1A1 0 genome.wustl.edu 37 17 48272975 48272975 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48272975 48272975 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.1108 p.R370C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 88 0 0 63 24 27.5862 RNF167 0 genome.wustl.edu 37 17 4846214 4846214 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4846214 4846214 G A SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.448 p.A150T 0.962 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 99 0 0 42 15 26.3158 LRRC59 0 genome.wustl.edu 37 17 48474629 48474629 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48474629 48474629 C T SNP LRRC59 ENST00000225972 human ensembl 74_37 -1 known missense c.50 p.G17D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC59 HGNC ENSG00000108829 100 0 0 92 8 8 RSAD1 0 genome.wustl.edu 37 17 48557338 48557338 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48557338 48557338 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.367 p.P123S 0.997 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 91 0 0 107 6 5.30973 RSAD1 0 genome.wustl.edu 37 17 48561838 48561838 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48561838 48561838 G T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.1143 p.W381C 1.000 pfam_HemN_C_dom pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 100 0 0 85 20 19.0476 MYCBPAP 0 genome.wustl.edu 37 17 48603347 48603347 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48603347 48603347 G A SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.2017 p.V673I 0.005 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 106 0 0 108 26 19.403 SPATA20 0 genome.wustl.edu 37 17 48628211 48628211 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48628211 48628211 T C SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1316 p.L439P 0.990 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 191 0 0 116 58 33.3333 CACNA1G 0 genome.wustl.edu 37 17 48696047 48696047 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48696047 48696047 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.5459 p.T1820I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 66 0 0 39 12 23.5294 CACNA1G 0 genome.wustl.edu 37 17 48697164 48697164 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48697164 48697164 A G SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.5902 p.S1968G 0.995 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 29 0 0 9 3 25 CAMTA2 0 genome.wustl.edu 37 17 4876900 4876900 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4876900 4876900 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.2250 p.I750 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 25 0 0 22 4 15.3846 KIF1C 0 genome.wustl.edu 37 17 4908175 4908175 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 4908175 4908175 C T SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.1045 p.R349C 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 182 0 0 103 53 33.9744 EPX 0 genome.wustl.edu 37 17 56277739 56277739 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 56277739 56277739 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.1691 p.R564Q 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 75 0 0 76 5 6.17284 BZRAP1 0 genome.wustl.edu 37 17 56389844 56389844 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 56389844 56389844 G T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.2338 p.P780T 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 85 0 0 64 5 7.24638 TEX14 0 genome.wustl.edu 37 17 56663224 56663224 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 56663224 56663224 G A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.3026 p.T1009M 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 125 0 0 79 13 14.1304 TEX14 0 genome.wustl.edu 37 17 56699126 56699126 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 56699126 56699126 A G SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.439 p.C147R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 87 0 0 70 20 22.2222 SMG8 0 genome.wustl.edu 37 17 57292310 57292310 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 57292310 57292310 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known nonsense c.2923 p.Q975* 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 89 0 0 60 18 23.0769 BCAS3 0 genome.wustl.edu 37 17 58756883 58756883 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 58756883 58756883 T C SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.65 p.V22A 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 164 0 0 167 10 5.64972 NACA2 0 genome.wustl.edu 37 17 59668209 59668209 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 59668209 59668209 G A SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known silent c.333 p.V111 0.999 pfam_Nas_poly-pep-assoc_cplx_dom,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 223 0 0 184 12 6.12245 INTS2 0 genome.wustl.edu 37 17 59949820 59949820 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 59949820 59949820 A G SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2608 p.C870R 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 16 0 0 8 7 46.6667 MED13 0 genome.wustl.edu 37 17 60060188 60060188 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 60060188 60060188 G T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3176 p.P1059H 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 86 0 0 43 12 21.8182 MRC2 0 genome.wustl.edu 37 17 60757801 60757801 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 60757801 60757801 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.2460 p.D820 0.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 142 0 0 92 37 28.6822 KCNH6 0 genome.wustl.edu 37 17 61622452 61622452 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 61622452 61622452 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2518 p.V840M 0.665 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 195 0 0 115 55 32.3529 MAP3K3 0 genome.wustl.edu 37 17 61767711 61767711 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 61767711 61767711 C T SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.1244 p.T415M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 79 0 0 49 23 31.9444 FTSJ3 0 genome.wustl.edu 37 17 61899142 61899142 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 61899142 61899142 C T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1537 p.V513I 1.000 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 226 0 0 113 60 34.6821 TEX2 0 genome.wustl.edu 37 17 62290153 62290153 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 62290153 62290153 C T SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known silent c.1425 p.T475 0.001 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 100 0 0 76 25 24.7525 PITPNM3 0 genome.wustl.edu 37 17 6377759 6377759 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 6377759 6377759 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.1251 p.G417 0.907 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 50 0 0 51 7 12.069 PITPNM3 0 genome.wustl.edu 37 17 6381891 6381891 + Silent SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 6381891 6381891 A C SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.753 p.S251 0.046 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 49 0 0 33 19 36.5385 KIAA0753 0 genome.wustl.edu 37 17 6531467 6531467 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 6531467 6531467 T C SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.688 p.I230V 0.998 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 52 0 0 60 11 15.493 AMZ2 0 genome.wustl.edu 37 17 66246996 66246996 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 66246996 66246996 T C SNP AMZ2 ENST00000359904 human ensembl 74_37 +1 known silent c.345 p.C115 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ENSG00000196704 50 0 0 35 22 38.5965 ABCA8 0 genome.wustl.edu 37 17 66880477 66880477 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 66880477 66880477 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.3610 p.L1204 0.152 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 19 0 0 16 6 27.2727 BCL6B 0 genome.wustl.edu 37 17 6927479 6927479 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 6927479 6927479 C T SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known missense c.257 p.A86V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 BCL6B HGNC ENSG00000161940 192 0 0 112 48 30 BCL6B 0 genome.wustl.edu 37 17 6929846 6929846 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 6929846 6929846 T C SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known silent c.960 p.V320 0.833 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 BCL6B HGNC ENSG00000161940 135 0 0 68 40 37.037 ASGR1 0 genome.wustl.edu 37 17 7077550 7077550 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7077550 7077550 C T SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known nonsense c.501 p.W167* 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 214 0 0 192 37 16.1572 NXN 0 genome.wustl.edu 37 17 708348 708348 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 708348 708348 G A SNP NXN ENST00000336868 human ensembl 74_37 -1 known silent c.960 p.A320 0.200 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 22 0 0 7 6 46.1538 NXN 0 genome.wustl.edu 37 17 722696 722696 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 722696 722696 C T SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.803 p.R268Q 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 51 0 0 25 22 46.8085 NEURL4 0 genome.wustl.edu 37 17 7228685 7228685 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7228685 7228685 G A SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.1474 p.R492C 0.865 superfamily_ConA-like_lec_gl_sf pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 70 0 0 80 5 5.88235 DNAI2 0 genome.wustl.edu 37 17 72308264 72308264 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 72308264 72308264 A G SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known silent c.1617 p.V539 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 54 0 0 34 15 30.6122 NAT9 0 genome.wustl.edu 37 17 72769713 72769713 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 72769713 72769713 A G SNP NAT9 ENST00000357814 human ensembl 74_37 -1 known splice_site c.190+2 e2+2 1.000 - - - no_errors NAT9 HGNC ENSG00000109065 95 0 0 68 25 26.8817 TMEM104 0 genome.wustl.edu 37 17 72832269 72832269 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 72832269 72832269 G A SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.934 p.V312M 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 196 0 0 117 41 25.9494 HID1 0 genome.wustl.edu 37 17 72956180 72956180 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 72956180 72956180 T C SNP HID1 ENST00000425042 human ensembl 74_37 -1 known missense c.892 p.S298G 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 51 0 0 48 20 29.4118 SLC16A5 0 genome.wustl.edu 37 17 73089898 73089898 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73089898 73089898 C A SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known missense c.167 p.P56H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 167 0 0 126 19 13.1034 ARMC7 0 genome.wustl.edu 37 17 73125138 73125138 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73125138 73125138 T C SNP ARMC7 ENST00000579096 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARMC7 HGNC ENSG00000125449 31 0 0 24 11 31.4286 NLGN2 0 genome.wustl.edu 37 17 7320492 7320492 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7320492 7320492 C T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.1882 p.R628C 0.994 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 15 0 0 16 4 20 RECQL5 0 genome.wustl.edu 37 17 73623600 73623600 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73623600 73623600 T C SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.2878 p.K960E 1.000 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 101 0 0 80 5 5.88235 GALK1 0 genome.wustl.edu 37 17 73754633 73754633 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73754633 73754633 C T SNP GALK1 ENST00000437911 human ensembl 74_37 -1 known missense c.931 p.V311M 1.000 pirsf_Galactokinase,prints_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 11 0 0 10 3 23.0769 ENSG00000267801 0 genome.wustl.edu 37 17 73872783 73872783 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73872783 73872783 G T SNP ENSG00000267801 ENST00000586076 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors RP11-552F3.9 Clone_based_vega_gene ENSG00000267801 47 0 0 45 7 13.4615 TRIM65 0 genome.wustl.edu 37 17 73888242 73888242 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73888242 73888242 C A SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known missense c.769 p.G257W 0.008 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 9 0 0 6 2 25 ACOX1 0 genome.wustl.edu 37 17 73952007 73952007 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73952007 73952007 G A SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.560 p.A187V 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 109 1 0.909091 119 32 21.1921 EVPL 0 genome.wustl.edu 37 17 74005049 74005049 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 74005049 74005049 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.4237 p.R1413W 0.305 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 136 0 0 61 39 39 EVPL 0 genome.wustl.edu 37 17 74005310 74005310 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 74005310 74005310 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.3976 p.L1326 0.995 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 277 0 0 192 33 14.6667 POLR2A 0 genome.wustl.edu 37 17 7412441 7412441 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7412441 7412441 A C SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.3644 p.E1215A 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_7 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 52 0 0 34 10 22.7273 ST6GALNAC1 0 genome.wustl.edu 37 17 74621504 74621504 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 74621504 74621504 G A SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known silent c.1711 p.L571 0.047 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 47 0 0 47 3 6 ST6GALNAC1 0 genome.wustl.edu 37 17 74625401 74625401 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 74625401 74625401 G A SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known missense c.524 p.T175M 0.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 183 1 0.543478 162 55 25.3456 SENP3 0 genome.wustl.edu 37 17 7473750 7473750 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7473750 7473750 T C SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.1418 p.V473A 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 50 0 0 44 6 12 ATP1B2 0 genome.wustl.edu 37 17 7557199 7557199 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7557199 7557199 T C SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known silent c.282 p.I94 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 86 0 0 56 28 33.3333 TMC6 0 genome.wustl.edu 37 17 76122898 76122898 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 76122898 76122898 C T SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known missense c.16 p.A6T 0.000 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 46 0 0 22 8 26.6667 PGS1 0 genome.wustl.edu 37 17 76388607 76388607 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 76388607 76388607 T C SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.194 p.V65A 0.889 NULL pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 51 0 0 69 6 8 DNAH17 0 genome.wustl.edu 37 17 76420019 76420019 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 76420019 76420019 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.13426 p.L4476 0.991 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,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 179 0 0 149 40 21.164 DNAH17 0 genome.wustl.edu 37 17 76533441 76533441 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 76533441 76533441 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.2799 p.N933 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 26 0 0 8 10 55.5556 DNAH2 0 genome.wustl.edu 37 17 7710878 7710878 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7710878 7710878 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.9703 p.A3235T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 60 0 0 41 15 26.7857 CBX4 0 genome.wustl.edu 37 17 77808735 77808735 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 77808735 77808735 C T SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known missense c.706 p.A236T 0.595 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 160 0 0 109 39 26.3514 RNF213 0 genome.wustl.edu 37 17 78282969 78282969 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 78282969 78282969 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.2653 p.V885M 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 90 0 0 87 26 23.0088 LOC100294362 0 genome.wustl.edu 37 17 78326534 78326534 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 78326534 78326534 T C SNP LOC100294362 ENST00000575034 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2047H16.4 Clone_based_vega_gene ENSG00000263069 13 0 0 14 3 17.6471 ENSG00000262115 0 genome.wustl.edu 37 17 79173663 79173663 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 79173663 79173663 G A SNP ENSG00000262115 ENST00000571085 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-455O6.2 Clone_based_vega_gene ENSG00000262115 122 0 0 81 48 37.2093 C17orf70 0 genome.wustl.edu 37 17 79514605 79514605 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 79514605 79514605 C T SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known silent c.1503 p.T501 0.002 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 147 0 0 107 40 27.2109 PYCR1 0 genome.wustl.edu 37 17 79892208 79892208 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 79892208 79892208 C T SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known missense c.791 p.R264H 0.999 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 31 0 0 24 3 11.1111 ASPSCR1 0 genome.wustl.edu 37 17 79954570 79954570 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 79954570 79954570 C T SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.781 p.P261S 0.000 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 76 0 0 67 14 17.284 LRRC45 0 genome.wustl.edu 37 17 79985901 79985901 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 79985901 79985901 A C SNP LRRC45 ENST00000306688 human ensembl 74_37 +1 known missense c.926 p.E309A 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 31 0 0 19 6 24 FASN 0 genome.wustl.edu 37 17 80037033 80037033 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80037033 80037033 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.7522 p.V2508M 0.991 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 92 0 0 49 18 26.8657 FASN 0 genome.wustl.edu 37 17 80045016 80045016 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80045016 80045016 T C SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.3337 p.I1113V 0.996 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 35 0 0 23 6 20.6897 FASN 0 genome.wustl.edu 37 17 80051506 80051506 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80051506 80051506 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.422 p.A141V 1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 103 0 0 75 11 12.7907 UTS2R 0 genome.wustl.edu 37 17 80332577 80332577 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80332577 80332577 T G SNP UTS2R ENST00000313135 human ensembl 74_37 +1 known missense c.377 p.L126R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn - no_errors UTS2R HGNC ENSG00000181408 39 0 0 26 22 45.8333 HEXDC 0 genome.wustl.edu 37 17 80400119 80400119 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80400119 80400119 G A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.1409 p.R470Q 0.002 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 46 0 0 53 4 7.01754 C17orf62 0 genome.wustl.edu 37 17 80402342 80402342 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80402342 80402342 C T SNP C17orf62 ENST00000306645 human ensembl 74_37 -1 known missense c.424 p.A142T 0.996 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 74 0 0 66 20 23.2558 TBCD 0 genome.wustl.edu 37 17 80726423 80726423 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80726423 80726423 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.563 p.R188H 0.976 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 92 0 0 62 4 6.06061 TBCD 0 genome.wustl.edu 37 17 80882895 80882895 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80882895 80882895 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.2341 p.A781T 0.472 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 10 0 0 9 3 25 TBCD 0 genome.wustl.edu 37 17 80885161 80885161 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80885161 80885161 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.2571 p.D857 0.003 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 30 0 0 33 5 13.1579 METRNL 0 genome.wustl.edu 37 17 81042846 81042846 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 81042846 81042846 T C SNP METRNL ENST00000320095 human ensembl 74_37 +1 known missense c.203 p.V68A 1.000 NULL NULL - no_errors METRNL HGNC ENSG00000176845 124 0 0 105 9 7.89474 AURKB 0 genome.wustl.edu 37 17 8108544 8108544 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 8108544 8108544 C T SNP AURKB ENST00000585124 human ensembl 74_37 -1 known missense c.851 p.R284H 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKB HGNC ENSG00000178999 34 0 0 24 7 22.5806 MYH10 0 genome.wustl.edu 37 17 8379141 8379141 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 8379141 8379141 T C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5975 p.Q1992R 0.999 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 157 0 0 148 9 5.73248 STX8 0 genome.wustl.edu 37 17 9460769 9460769 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 9460769 9460769 G A SNP STX8 ENST00000306357 human ensembl 74_37 -1 known missense c.194 p.A65V 1.000 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 38 0 0 22 4 15.3846 GAS7 0 genome.wustl.edu 37 17 9850287 9850287 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 9850287 9850287 G A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.539 p.T180M 1.000 NULL pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 58 0 0 34 6 15 APCDD1 0 genome.wustl.edu 37 18 10487648 10487648 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 10487648 10487648 C T SNP APCDD1 ENST00000578882 human ensembl 74_37 +1 novel missense c.547 p.R183W 0.716 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 86 0 0 74 33 30.8411 PIEZO2 0 genome.wustl.edu 37 18 10696429 10696429 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 10696429 10696429 C A SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known silent c.468 p.V156 0.809 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 81 0 0 71 7 8.97436 SPIRE1 0 genome.wustl.edu 37 18 12479767 12479767 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 12479767 12479767 C A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1335 p.Q445H 0.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 51 0 0 54 4 6.89655 CEP192 0 genome.wustl.edu 37 18 13124550 13124550 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 13124550 13124550 T C SNP CEP192 ENST00000513183 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CEP192 HGNC ENSG00000101639 24 0 0 10 10 50 ANKRD20A5P 0 genome.wustl.edu 37 18 14179529 14179529 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 14179529 14179529 G A SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 25 0 0 41 4 8.88889 ANKRD20A5P 0 genome.wustl.edu 37 18 14179568 14179568 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 14179568 14179568 G T SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 24 0 0 46 5 9.80392 ANKRD30B 0 genome.wustl.edu 37 18 14851570 14851570 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 14851570 14851570 A C SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3270 p.E1090D 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 25 0 0 19 3 13.6364 ABHD3 0 genome.wustl.edu 37 18 19231607 19231607 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 19231607 19231607 C T SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known missense c.1175 p.R392H 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 83 0 0 76 6 7.31707 LAMA3 0 genome.wustl.edu 37 18 21364090 21364090 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 21364090 21364090 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known silent c.1572 p.R524 0.013 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 173 0 0 120 35 22.5806 LAMA3 0 genome.wustl.edu 37 18 21390463 21390463 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 21390463 21390463 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known silent c.1737 p.C579 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 114 0 0 78 5 6.0241 CDH2 0 genome.wustl.edu 37 18 25565659 25565659 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 25565659 25565659 G T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1808 p.P603H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 55 0 0 26 15 36.5854 SMCHD1 0 genome.wustl.edu 37 18 2688392 2688392 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 2688392 2688392 T C SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known silent c.639 p.S213 1.000 superfamily_HATPase_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 55 0 0 38 17 30.9091 DSC2 0 genome.wustl.edu 37 18 28654858 28654858 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 28654858 28654858 G A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.1679 p.T560M 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmosomal_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 27 0 0 20 3 13.0435 SLC25A52 0 genome.wustl.edu 37 18 29340605 29340605 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 29340605 29340605 T C SNP SLC25A52 ENST00000269205 human ensembl 74_37 -1 known missense c.50 p.H17R 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 101 0 0 62 13 17.3333 MEP1B 0 genome.wustl.edu 37 18 29790531 29790531 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 29790531 29790531 T C SNP MEP1B ENST00000269202 human ensembl 74_37 +1 known silent c.987 p.S329 0.833 pirsf_Pept_M12A_Meprin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 57 0 0 50 6 10.7143 C18orf21 0 genome.wustl.edu 37 18 33554884 33554884 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 33554884 33554884 G A SNP C18orf21 ENST00000592875 human ensembl 74_37 +1 known silent c.126 p.T42 0.937 NULL NULL - no_errors C18orf21 HGNC ENSG00000141428 92 0 0 56 26 31.7073 MOCOS 0 genome.wustl.edu 37 18 33779931 33779931 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 33779931 33779931 G A SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.585 p.P195 0.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 76 0 0 49 20 28.9855 FHOD3 0 genome.wustl.edu 37 18 34327049 34327049 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 34327049 34327049 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.3658 p.A1220T 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 45 0 0 57 5 8.06452 CELF4 0 genome.wustl.edu 37 18 34833874 34833874 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 34833874 34833874 C T SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.1361 p.S454N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 91 0 0 52 27 34.1772 DLGAP1 0 genome.wustl.edu 37 18 3729292 3729292 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 3729292 3729292 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known silent c.1434 p.A478 0.996 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 44 0 0 35 17 32.6923 SETBP1 0 genome.wustl.edu 37 18 42532291 42532291 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 42532291 42532291 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2986 p.V996M 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 146 0 0 93 25 21.1864 SETBP1 0 genome.wustl.edu 37 18 42643099 42643099 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 42643099 42643099 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.4227 p.C1409 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 98 0 0 52 25 32.4675 SETBP1 0 genome.wustl.edu 37 18 42643635 42643635 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 42643635 42643635 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4763 p.R1588Q 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 19 0 0 10 3 23.0769 EPG5 0 genome.wustl.edu 37 18 43496007 43496007 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 43496007 43496007 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known silent c.3549 p.D1183 0.994 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 30 0 0 26 14 35 ST8SIA5 0 genome.wustl.edu 37 18 44260090 44260090 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 44260090 44260090 G C SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known missense c.1046 p.A349G 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 155 0 0 131 10 7.0922 ST8SIA5 0 genome.wustl.edu 37 18 44260313 44260313 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 44260313 44260313 A G SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known missense c.823 p.Y275H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 50 0 0 57 7 10.9375 TCEB3B 0 genome.wustl.edu 37 18 44559729 44559729 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 44559729 44559729 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1907 p.G636D 0.435 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 188 0 0 147 11 6.96203 ZBTB7C 0 genome.wustl.edu 37 18 45566744 45566744 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 45566744 45566744 T C SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known silent c.735 p.R245 1.000 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 ZBTB7C HGNC ENSG00000184828 40 0 0 44 14 24.1379 ZBTB7C 0 genome.wustl.edu 37 18 45567049 45567049 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 45567049 45567049 C T SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known missense c.430 p.D144N 0.931 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 ZBTB7C HGNC ENSG00000184828 48 0 0 28 11 28.2051 ACAA2 0 genome.wustl.edu 37 18 47311636 47311636 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 47311636 47311636 G A SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.1040 p.A347V 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 39 0 0 38 6 13.6364 MBD1 0 genome.wustl.edu 37 18 47800077 47800077 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 47800077 47800077 T C SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1456 p.T486A 0.022 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 130 0 0 83 25 23.1481 ATP8B1 0 genome.wustl.edu 37 18 55319825 55319825 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 55319825 55319825 G T SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.3152 p.P1051H 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 82 0 0 73 6 7.59494 ALPK2 0 genome.wustl.edu 37 18 56246569 56246569 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 56246569 56246569 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.1439 p.A480V 0.006 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 98 0 0 119 9 7.03125 ZNF532 0 genome.wustl.edu 37 18 56586759 56586759 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 56586759 56586759 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.1240 p.A414T 0.045 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 46 0 0 51 7 12.069 CDH20 0 genome.wustl.edu 37 18 59157849 59157849 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 59157849 59157849 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known silent c.63 p.Y21 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 95 0 0 69 25 26.5957 SERPINB10 0 genome.wustl.edu 37 18 61585320 61585320 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 61585320 61585320 C T SNP SERPINB10 ENST00000238508 human ensembl 74_37 +1 known missense c.356 p.T119M 0.795 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 57 0 0 36 7 16.2791 RPL6P27 0 genome.wustl.edu 37 18 6462491 6462491 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 6462491 6462491 T C SNP RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 0.206 - - - no_errors RPL6P27 HGNC ENSG00000235552 20 0 0 16 7 30.4348 DSEL 0 genome.wustl.edu 37 18 65180259 65180259 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 65180259 65180259 A G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.1617 p.T539 0.369 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 61 0 0 59 26 30.5882 DSEL 0 genome.wustl.edu 37 18 65181045 65181045 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 65181045 65181045 A C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.831 p.H277Q 0.200 superfamily_Chondroitin_lyas pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 78 0 0 63 4 5.97015 DSEL 0 genome.wustl.edu 37 18 65181751 65181751 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 65181751 65181751 C A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.125 p.W42L 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 67 0 0 59 6 9.23077 DOK6 0 genome.wustl.edu 37 18 67231778 67231778 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 67231778 67231778 G T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.122 p.R41M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 57 0 0 48 4 7.69231 CD226 0 genome.wustl.edu 37 18 67562971 67562971 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 67562971 67562971 G A SNP CD226 ENST00000280200 human ensembl 74_37 -1 known silent c.693 p.N231 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD226 HGNC ENSG00000150637 192 0 0 121 57 32.0225 RTTN 0 genome.wustl.edu 37 18 67817853 67817853 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 67817853 67817853 G A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.2046 p.P682 0.278 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 86 0 0 39 13 25 LAMA1 0 genome.wustl.edu 37 18 6947161 6947161 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 6947161 6947161 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known splice_site c.8844+1 e61+1 1.000 - - - no_errors LAMA1 HGNC ENSG00000101680 89 0 0 61 17 21.7949 CBLN2 0 genome.wustl.edu 37 18 70209282 70209282 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 70209282 70209282 C T SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known silent c.114 p.L38 0.998 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 22 0 0 27 19 41.3043 CNDP1 0 genome.wustl.edu 37 18 72228205 72228205 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 72228205 72228205 C T SNP CNDP1 ENST00000358821 human ensembl 74_37 +1 known missense c.418 p.R140W 0.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 121 0 0 129 17 11.6438 ZNF407 0 genome.wustl.edu 37 18 72343120 72343120 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 72343120 72343120 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.145 p.G49S 0.042 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 66 0 0 58 4 6.45161 ZNF407 0 genome.wustl.edu 37 18 72344625 72344625 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 72344625 72344625 C A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known nonsense c.1650 p.C550* 0.818 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 237 0 0 162 49 23.2227 SALL3 0 genome.wustl.edu 37 18 76753102 76753102 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 76753102 76753102 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1111 p.V371I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 18 0 0 10 4 28.5714 ATP9B 0 genome.wustl.edu 37 18 77133945 77133945 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 77133945 77133945 G A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.3118 p.V1040I 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 133 0 0 74 27 26.7327 KCNG2 0 genome.wustl.edu 37 18 77659290 77659290 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 77659290 77659290 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.875 p.A292V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 17 0 0 13 8 38.0952 KCNG2 0 genome.wustl.edu 37 18 77659546 77659546 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 77659546 77659546 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known silent c.1131 p.P377 0.984 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 74 0 0 55 19 25.6757 ANKRD12 0 genome.wustl.edu 37 18 9254421 9254421 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 9254421 9254421 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known nonsense c.1156 p.R386* 0.907 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 56 0 0 47 16 25.3968 PPP4R1 0 genome.wustl.edu 37 18 9562041 9562041 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 9562041 9562041 G A SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known silent c.1779 p.S593 0.144 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 39 0 0 34 10 22.7273 COL5A3 0 genome.wustl.edu 37 19 10116619 10116619 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10116619 10116619 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.290 p.R97Q 0.832 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 92 0 0 69 27 28.125 DNMT1 0 genome.wustl.edu 37 19 10250402 10250402 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10250402 10250402 G T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.3898 p.L1300I 0.979 pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 28 0 0 17 2 10.5263 ICAM5 0 genome.wustl.edu 37 19 10403761 10403761 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10403761 10403761 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1304 p.G435E 0.993 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 104 0 0 68 38 35.8491 ICAM5 0 genome.wustl.edu 37 19 10403790 10403790 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10403790 10403790 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1333 p.R445C 0.069 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 93 0 0 67 47 41.2281 ICAM5 0 genome.wustl.edu 37 19 10405119 10405119 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10405119 10405119 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.2033 p.T678M 0.993 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 85 0 0 77 8 9.41176 ABCA7 0 genome.wustl.edu 37 19 1041564 1041564 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1041564 1041564 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.122 p.A41V 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 113 1 0.877193 79 7 8.13953 TYK2 0 genome.wustl.edu 37 19 10467270 10467270 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10467270 10467270 C T SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.2591 p.R864H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 39 0 0 40 10 20 CDC37 0 genome.wustl.edu 37 19 10506876 10506876 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10506876 10506876 G A SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known missense c.106 p.R36W 1.000 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 97 0 0 64 29 31.1828 ABCA7 0 genome.wustl.edu 37 19 1053818 1053818 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1053818 1053818 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.3455 p.A1152V 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 115 1 0.862069 90 6 6.25 KEAP1 0 genome.wustl.edu 37 19 10602938 10602938 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10602938 10602938 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.640 p.V214M 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 62 0 0 49 5 9.25926 KRI1 0 genome.wustl.edu 37 19 10670333 10670333 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10670333 10670333 G A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.997 p.R333C 1.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 52 0 0 48 13 21.3115 SLC44A2 0 genome.wustl.edu 37 19 10747221 10747221 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10747221 10747221 C T SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1456 p.P486S 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 55 0 0 71 5 6.57895 QTRT1 0 genome.wustl.edu 37 19 10818220 10818220 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10818220 10818220 C A SNP QTRT1 ENST00000250237 human ensembl 74_37 +1 known missense c.575 p.P192Q 0.835 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like - no_errors QTRT1 HGNC ENSG00000213339 62 0 0 50 4 7.40741 SMARCA4 0 genome.wustl.edu 37 19 11132481 11132481 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 11132481 11132481 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.2697 p.T899 0.755 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 42 0 0 28 10 26.3158 SBNO2 0 genome.wustl.edu 37 19 1123586 1123586 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1123586 1123586 T G SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.575 p.E192A 0.990 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 41 0 0 33 10 23.2558 KANK2 0 genome.wustl.edu 37 19 11304231 11304231 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 11304231 11304231 G T SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known silent c.525 p.S175 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 35 0 0 27 11 28.9474 DOCK6 0 genome.wustl.edu 37 19 11352750 11352750 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 11352750 11352750 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known silent c.1614 p.R538 0.261 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 30 0 0 14 9 39.1304 CCDC151 0 genome.wustl.edu 37 19 11541563 11541563 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 11541563 11541563 C T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.400 p.E134K 0.286 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 129 0 0 114 7 5.78512 MAN2B1 0 genome.wustl.edu 37 19 12761026 12761026 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 12761026 12761026 A G SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.2057 p.V686A 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 123 0 0 138 12 8 DNASE2 0 genome.wustl.edu 37 19 12989513 12989513 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 12989513 12989513 G T SNP DNASE2 ENST00000222219 human ensembl 74_37 -1 known missense c.482 p.S161Y 1.000 pfam_DNase_II pfam_DNase_II - no_errors DNASE2 HGNC ENSG00000105612 43 0 0 36 11 23.4043 NACC1 0 genome.wustl.edu 37 19 13249171 13249171 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 13249171 13249171 C T SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known missense c.1535 p.T512I 0.953 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 119 1 0.833333 109 23 17.4242 CACNA1A 0 genome.wustl.edu 37 19 13616881 13616881 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 13616881 13616881 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.158 p.A53V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 38 0 0 41 9 18 C19orf57 0 genome.wustl.edu 37 19 14001245 14001245 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 14001245 14001245 G A SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.424 p.P142S 0.000 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 77 0 0 78 5 6.0241 PKN1 0 genome.wustl.edu 37 19 14574686 14574686 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 14574686 14574686 G A SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.1560 p.T520 0.962 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 69 0 0 82 7 7.86517 APC2 0 genome.wustl.edu 37 19 1465619 1465619 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1465619 1465619 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known silent c.2319 p.S773 0.002 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 26 0 0 20 3 13.0435 APC2 0 genome.wustl.edu 37 19 1468460 1468460 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1468460 1468460 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known silent c.5160 p.F1720 0.123 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 25 0 0 15 5 25 CASP14 0 genome.wustl.edu 37 19 15164693 15164693 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 15164693 15164693 C T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known silent c.327 p.F109 0.003 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 110 0 0 72 42 36.8421 CASP14 0 genome.wustl.edu 37 19 15164756 15164756 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 15164756 15164756 G T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.390 p.Q130H 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 66 0 0 72 4 5.26316 NOTCH3 0 genome.wustl.edu 37 19 15291822 15291822 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 15291822 15291822 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.2944 p.P982S 0.001 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 25 0 0 9 10 52.6316 PGLYRP2 0 genome.wustl.edu 37 19 15580722 15580722 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 15580722 15580722 G A SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.1362 p.D454 0.997 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 31 0 0 20 3 13.0435 CYP4F3 0 genome.wustl.edu 37 19 15752234 15752234 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 15752234 15752234 G A SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known silent c.9 p.Q3 0.002 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 114 0 0 71 30 29.703 MBD3 0 genome.wustl.edu 37 19 1578404 1578404 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1578404 1578404 C T SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.811 p.D271N 0.328 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 64 0 0 45 13 22.4138 OR10H3 0 genome.wustl.edu 37 19 15852474 15852474 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 15852474 15852474 G A SNP OR10H3 ENST00000305892 human ensembl 74_37 +1 known missense c.272 p.R91H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 346 0 0 252 99 28.2051 MED26 0 genome.wustl.edu 37 19 16689204 16689204 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 16689204 16689204 G A SNP MED26 ENST00000263390 human ensembl 74_37 -1 known missense c.89 p.A30V 1.000 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 76 0 0 47 29 38.1579 NWD1 0 genome.wustl.edu 37 19 16860051 16860051 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 16860051 16860051 C A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.598 p.L200I 0.896 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 106 0 0 63 33 34.375 SIN3B 0 genome.wustl.edu 37 19 16980660 16980660 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 16980660 16980660 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known silent c.2292 p.P764 0.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 55 0 0 28 20 41.6667 F2RL3 0 genome.wustl.edu 37 19 17000890 17000890 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 17000890 17000890 G A SNP F2RL3 ENST00000248076 human ensembl 74_37 +1 known missense c.616 p.A206T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL3 HGNC ENSG00000127533 32 0 0 22 8 26.6667 ARRDC2 0 genome.wustl.edu 37 19 18120690 18120690 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 18120690 18120690 G T SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known missense c.691 p.G231C 0.999 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 86 0 0 82 6 6.81818 PIK3R2 0 genome.wustl.edu 37 19 18280056 18280056 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 18280056 18280056 G A SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known silent c.2139 p.A713 0.979 pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 23 0 0 22 7 24.1379 ISYNA1 0 genome.wustl.edu 37 19 18547246 18547246 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 18547246 18547246 G A SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known missense c.653 p.A218V 0.717 pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 120 0 0 90 11 10.8911 NCAN 0 genome.wustl.edu 37 19 19349146 19349146 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 19349146 19349146 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.3335 p.A1112V 0.999 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 117 0 0 95 10 9.52381 TM6SF2 0 genome.wustl.edu 37 19 19379477 19379477 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 19379477 19379477 T C SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.571 p.S191G 0.765 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 61 0 0 53 16 23.1884 GATAD2A 0 genome.wustl.edu 37 19 19612199 19612199 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 19612199 19612199 G A SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.1474 p.A492T 0.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 17 0 0 13 4 23.5294 TSSK6 0 genome.wustl.edu 37 19 19625898 19625898 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 19625898 19625898 G A SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.339 p.R113 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 64 0 0 85 6 6.59341 CILP2 0 genome.wustl.edu 37 19 19652013 19652013 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 19652013 19652013 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.550 p.R184C 0.952 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 14 0 0 10 4 28.5714 CSNK1G2 0 genome.wustl.edu 37 19 1969934 1969934 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1969934 1969934 G T SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known missense c.163 p.G55C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 60 0 0 46 17 26.9841 MKNK2 0 genome.wustl.edu 37 19 2046621 2046621 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2046621 2046621 G A SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known nonsense c.121 p.Q41* 0.922 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 8 0 0 6 4 40 DOT1L 0 genome.wustl.edu 37 19 2191017 2191017 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2191017 2191017 G T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.271 p.G91C 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 24 0 0 13 7 35 ZNF208 0 genome.wustl.edu 37 19 22154770 22154770 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 22154770 22154770 A C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3066 p.I1022M 0.153 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 ZNF208 HGNC ENSG00000160321 83 0 0 44 12 21.4286 ZNF208 0 genome.wustl.edu 37 19 22155401 22155401 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 22155401 22155401 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2435 p.K812T 0.981 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 ZNF208 HGNC ENSG00000160321 57 0 0 24 12 33.3333 SF3A2 0 genome.wustl.edu 37 19 2247960 2247960 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2247960 2247960 G A SNP SF3A2 ENST00000221494 human ensembl 74_37 +1 known silent c.810 p.A270 0.161 NULL smart_Znf_U1,pfscan_Znf_C2H2_matrin - no_errors SF3A2 HGNC ENSG00000104897 8 0 0 10 5 33.3333 JSRP1 0 genome.wustl.edu 37 19 2252760 2252760 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2252760 2252760 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known silent c.564 p.P188 0.000 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 68 0 0 54 23 29.8701 SPPL2B 0 genome.wustl.edu 37 19 2337508 2337508 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2337508 2337508 G T SNP SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPPL2B HGNC ENSG00000005206 139 0 0 126 7 5.26316 SLC39A3 0 genome.wustl.edu 37 19 2733026 2733026 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2733026 2733026 G A SNP SLC39A3 ENST00000269740 human ensembl 74_37 -1 known missense c.668 p.A223V 0.029 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 68 0 0 59 24 28.9157 ZNF77 0 genome.wustl.edu 37 19 2934350 2934350 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 2934350 2934350 C T SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known missense c.775 p.V259I 0.000 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 ZNF77 HGNC ENSG00000175691 61 0 0 37 8 17.7778 UQCRFS1 0 genome.wustl.edu 37 19 29698871 29698871 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 29698871 29698871 C T SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known missense c.409 p.V137I 1.000 pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 44 0 0 48 4 7.69231 TLE2 0 genome.wustl.edu 37 19 3005872 3005872 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 3005872 3005872 A G SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1595 p.L532P 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 75 0 0 64 28 30.4348 URI1 0 genome.wustl.edu 37 19 30500168 30500168 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 30500168 30500168 G A SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.943 p.D315N 0.008 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 23 0 0 26 3 10.3448 ZNF536 0 genome.wustl.edu 37 19 30936168 30936168 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 30936168 30936168 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1699 p.V567M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 163 0 0 97 33 25.3846 S1PR4 0 genome.wustl.edu 37 19 3179875 3179875 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 3179875 3179875 G A SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known missense c.1085 p.R362H 0.994 prints_EDG6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 178 0 0 131 59 31.0526 RGS9BP 0 genome.wustl.edu 37 19 33167775 33167775 + Silent SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 33167775 33167775 C G SNP RGS9BP ENST00000334176 human ensembl 74_37 +1 known silent c.606 p.R202 0.004 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 19 0 0 17 8 32 LRP3 0 genome.wustl.edu 37 19 33697631 33697631 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 33697631 33697631 G A SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.1717 p.A573T 0.236 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 104 0 0 76 23 23.2323 KIAA0355 0 genome.wustl.edu 37 19 34830835 34830835 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 34830835 34830835 C T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known silent c.1425 p.T475 0.846 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 298 0 0 230 18 7.25806 UBA2 0 genome.wustl.edu 37 19 34929578 34929578 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 34929578 34929578 C A SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.488 p.P163H 1.000 pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 101 0 0 91 25 21.5517 UBA2 0 genome.wustl.edu 37 19 34929589 34929589 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 34929589 34929589 C T SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known nonsense c.499 p.Q167* 1.000 pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 94 0 0 99 10 9.17431 GRAMD1A 0 genome.wustl.edu 37 19 35504472 35504472 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 35504472 35504472 C T SNP GRAMD1A ENST00000600231 human ensembl 74_37 +1 known missense c.634 p.R212C 0.852 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 47 0 0 35 17 32.6923 SCN1B 0 genome.wustl.edu 37 19 35524610 35524610 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 35524610 35524610 G A SNP SCN1B ENST00000262631 human ensembl 74_37 +1 known missense c.415 p.V139I 0.826 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 139 0 0 116 7 5.69106 TBXA2R 0 genome.wustl.edu 37 19 3600080 3600080 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 3600080 3600080 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.553 p.L185 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 37 0 0 36 13 26.5306 DMKN 0 genome.wustl.edu 37 19 36003673 36003673 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36003673 36003673 C T SNP DMKN ENST00000339686 human ensembl 74_37 -1 known missense c.446 p.G149D 0.309 NULL NULL - no_errors DMKN HGNC ENSG00000161249 38 0 0 30 20 40 LOC100506469 0 genome.wustl.edu 37 19 36033724 36033724 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36033724 36033724 C A SNP LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 18 0 0 20 5 20 ATP4A 0 genome.wustl.edu 37 19 36047927 36047927 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36047927 36047927 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1757 p.A586V 0.925 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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 ATP4A HGNC ENSG00000105675 93 0 0 54 30 35.7143 HAUS5 0 genome.wustl.edu 37 19 36113615 36113615 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36113615 36113615 G A SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known silent c.1764 p.L588 0.541 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 79 0 0 43 15 25.8621 KMT2B 0 genome.wustl.edu 37 19 36221296 36221296 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36221296 36221296 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.5130 p.F1710 0.984 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 432 0 0 259 86 24.9275 PRODH2 0 genome.wustl.edu 37 19 36303305 36303305 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36303305 36303305 C T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.556 p.A186T 1.000 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 120 0 0 99 7 6.60377 LRFN3 0 genome.wustl.edu 37 19 36431360 36431360 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36431360 36431360 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.1033 p.A345T 0.409 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 20 0 0 17 10 37.037 WDR62 0 genome.wustl.edu 37 19 36564323 36564323 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36564323 36564323 T A SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.1123 p.S375T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 125 0 0 99 39 28.2609 WDR62 0 genome.wustl.edu 37 19 36595902 36595902 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36595902 36595902 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.4544 p.A1515V 0.954 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 20 0 0 10 4 28.5714 APBA3 0 genome.wustl.edu 37 19 3753763 3753763 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 3753763 3753763 G A SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known silent c.1011 p.D337 0.989 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 15 0 0 10 4 28.5714 ZNF585B 0 genome.wustl.edu 37 19 37677527 37677527 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 37677527 37677527 G A SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known silent c.912 p.G304 0.991 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 ZNF585B HGNC ENSG00000245680 152 0 0 114 14 10.9375 ZNF540 0 genome.wustl.edu 37 19 38104037 38104037 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38104037 38104037 A C SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.1856 p.N619T 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 ZNF540 HGNC ENSG00000171817 53 0 0 17 8 32 ZFR2 0 genome.wustl.edu 37 19 3819150 3819150 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 3819150 3819150 C A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.1824 p.L608 0.878 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 31 0 0 35 4 10.2564 DPF1 0 genome.wustl.edu 37 19 38704344 38704344 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38704344 38704344 G T SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known silent c.1032 p.T344 0.998 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 108 0 0 114 7 5.78512 PPP1R14A 0 genome.wustl.edu 37 19 38742041 38742041 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38742041 38742041 G A SNP PPP1R14A ENST00000301242 human ensembl 74_37 -1 known nonsense c.361 p.Q121* 1.000 pfam_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14A HGNC ENSG00000167641 41 0 0 40 17 29.8246 GGN 0 genome.wustl.edu 37 19 38876775 38876775 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38876775 38876775 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.1127 p.P376L 0.850 NULL NULL - no_errors GGN HGNC ENSG00000179168 11 0 0 13 3 18.75 SPRED3 0 genome.wustl.edu 37 19 38882863 38882863 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38882863 38882863 C T SNP SPRED3 ENST00000338502 human ensembl 74_37 +1 known missense c.358 p.P120S 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 22 0 0 16 9 36 RYR1 0 genome.wustl.edu 37 19 38959605 38959605 + Splice_Site SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38959605 38959605 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known splice_site c.3382-1 e26-1 1.000 - - - no_errors RYR1 HGNC ENSG00000196218 49 0 0 34 12 26.087 RYR1 0 genome.wustl.edu 37 19 38985048 38985048 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38985048 38985048 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.6331 p.V2111M 0.995 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 36 0 0 27 13 32.5 RYR1 0 genome.wustl.edu 37 19 38987086 38987086 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 38987086 38987086 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.6701 p.R2234H 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 94 0 0 64 7 9.85915 CAPN12 0 genome.wustl.edu 37 19 39230725 39230725 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39230725 39230725 A C SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.695 p.L232R 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 33 0 0 26 9 25.7143 LGALS4 0 genome.wustl.edu 37 19 39303125 39303125 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39303125 39303125 A G SNP LGALS4 ENST00000307751 human ensembl 74_37 -1 known missense c.80 p.L27P 0.993 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS4 HGNC ENSG00000171747 81 0 0 65 19 22.619 RINL 0 genome.wustl.edu 37 19 39359891 39359891 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39359891 39359891 G T SNP RINL ENST00000591812 human ensembl 74_37 -1 known missense c.1634 p.A545D 0.183 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors RINL HGNC ENSG00000187994 88 0 0 61 27 30.6818 SIRT2 0 genome.wustl.edu 37 19 39380364 39380364 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39380364 39380364 C T SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known missense c.397 p.A133T 1.000 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 87 0 0 80 6 6.97674 SAMD4B 0 genome.wustl.edu 37 19 39860748 39860748 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39860748 39860748 G T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.650 p.G217V 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 23 0 0 13 5 27.7778 SAMD4B 0 genome.wustl.edu 37 19 39871333 39871333 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39871333 39871333 G A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.1756 p.G586S 0.813 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 39 0 0 34 10 22.7273 DYRK1B 0 genome.wustl.edu 37 19 40317948 40317948 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40317948 40317948 G A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known nonsense c.1072 p.R358* 1.000 pfam_Prot_kinase_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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1B HGNC ENSG00000105204 40 0 0 34 13 27.6596 PIAS4 0 genome.wustl.edu 37 19 4037483 4037483 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4037483 4037483 G T SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.1254 p.Q418H 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 41 0 0 21 12 36.3636 FCGBP 0 genome.wustl.edu 37 19 40399258 40399258 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40399258 40399258 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.6437 p.R2146H 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 26 0 0 28 8 22.2222 FCGBP 0 genome.wustl.edu 37 19 40411759 40411759 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40411759 40411759 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.3869 p.R1290Q 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 113 0 0 67 33 33 PSMC4 0 genome.wustl.edu 37 19 40478408 40478408 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40478408 40478408 G A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.268 p.G90R 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 34 0 0 29 11 27.5 PSMC4 0 genome.wustl.edu 37 19 40480240 40480240 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40480240 40480240 G A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.362 p.R121Q 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 67 0 0 62 5 7.46269 SPTBN4 0 genome.wustl.edu 37 19 41078036 41078036 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 41078036 41078036 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.7431 p.L2477 1.000 pirsf_Spectrin_bsu,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 252 0 0 196 13 6.2201 EGLN2 0 genome.wustl.edu 37 19 41306843 41306843 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 41306843 41306843 C A SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known silent c.366 p.A122 0.996 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 16 0 0 23 3 11.5385 CYP2A7 0 genome.wustl.edu 37 19 41387591 41387591 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 41387591 41387591 A G SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known silent c.246 p.C82 0.559 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 85 0 0 54 29 34.9398 CEACAM3 0 genome.wustl.edu 37 19 42312872 42312872 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42312872 42312872 C A SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.446 p.P149H 0.000 NULL pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 183 1 0.543478 146 49 25.1282 ATP1A3 0 genome.wustl.edu 37 19 42471893 42471893 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42471893 42471893 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.2842 p.L948 0.055 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC 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 ATP1A3 HGNC ENSG00000105409 47 0 0 34 4 10.5263 ZNF574 0 genome.wustl.edu 37 19 42584754 42584754 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42584754 42584754 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2266 p.R756C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 118 0 0 77 31 28.7037 ZNF574 0 genome.wustl.edu 37 19 42585195 42585195 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42585195 42585195 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2707 p.R903C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 120 0 0 97 31 24.2188 MEGF8 0 genome.wustl.edu 37 19 42855624 42855624 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42855624 42855624 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.2899 p.A967T 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 20 0 0 11 8 42.1053 TMIGD2 0 genome.wustl.edu 37 19 4298154 4298154 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4298154 4298154 C A SNP TMIGD2 ENST00000301272 human ensembl 74_37 -1 known missense c.235 p.G79W 0.005 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors TMIGD2 HGNC ENSG00000167664 77 0 0 85 17 16.6667 CEACAM1 0 genome.wustl.edu 37 19 43026264 43026264 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 43026264 43026264 T C SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.515 p.Q172R 0.005 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 275 1 0.362319 147 81 35.5263 CEACAM1 0 genome.wustl.edu 37 19 43032516 43032516 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 43032516 43032516 A C SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.11 p.L4R 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 48 0 0 41 26 38.806 PSG3 0 genome.wustl.edu 37 19 43237119 43237119 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 43237119 43237119 C T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.526 p.A176T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 351 0 0 300 20 6.25 PSG1 0 genome.wustl.edu 37 19 43372430 43372430 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 43372430 43372430 C T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.1066 p.A356T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 156 0 0 153 10 6.13497 PSG1 0 genome.wustl.edu 37 19 43383721 43383721 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 43383721 43383721 A T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.13 p.S5T 0.004 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 136 0 0 85 27 24.1071 PSG5 0 genome.wustl.edu 37 19 43674287 43674287 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 43674287 43674287 G A SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known missense c.968 p.P323L 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 132 0 0 76 43 36.1345 CADM4 0 genome.wustl.edu 37 19 44131874 44131874 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 44131874 44131874 G A SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known missense c.133 p.R45C 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM4 HGNC ENSG00000105767 243 0 0 159 40 20.1005 ZNF283 0 genome.wustl.edu 37 19 44341288 44341288 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 44341288 44341288 C T SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known silent c.294 p.Y98 0.021 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 122 0 0 72 5 6.49351 UBXN6 0 genome.wustl.edu 37 19 4446367 4446367 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4446367 4446367 T C SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.964 p.M322V 1.000 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 21 0 0 11 4 26.6667 PVRL2 0 genome.wustl.edu 37 19 45375403 45375403 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45375403 45375403 C T SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.772 p.R258C 0.997 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 101 0 0 56 31 35.6322 APOE 0 genome.wustl.edu 37 19 45411901 45411901 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45411901 45411901 G T SNP APOE ENST00000252486 human ensembl 74_37 +1 known missense c.348 p.Q116H 1.000 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOE HGNC ENSG00000130203 28 0 0 26 9 25.7143 APOC4 0 genome.wustl.edu 37 19 45448424 45448424 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45448424 45448424 G A SNP APOC4 ENST00000419266 human ensembl 74_37 +1 known missense c.246 p.M82I 0.893 NULL NULL - no_errors APOC4 HGNC ENSG00000267467 292 0 0 205 100 32.7869 NKPD1 0 genome.wustl.edu 37 19 45655437 45655437 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45655437 45655437 C T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.2258 p.R753H 1.000 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 16 0 0 20 11 35.4839 NKPD1 0 genome.wustl.edu 37 19 45655898 45655898 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45655898 45655898 C A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1797 p.E599D 0.997 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 11 0 0 12 3 20 MARK4 0 genome.wustl.edu 37 19 45801436 45801436 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45801436 45801436 A G SNP MARK4 ENST00000300843 human ensembl 74_37 +1 known missense c.1913 p.N638S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK4 HGNC ENSG00000007047 102 0 0 55 27 32.9268 FOSB 0 genome.wustl.edu 37 19 45974241 45974241 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45974241 45974241 G T SNP FOSB ENST00000590335 human ensembl 74_37 +1 putative missense c.481 p.G161W 0.000 NULL prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 26 0 0 19 6 24 PPM1N 0 genome.wustl.edu 37 19 46002505 46002505 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 46002505 46002505 G A SNP PPM1N ENST00000451287 human ensembl 74_37 +1 known missense c.775 p.A259T 0.993 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1N HGNC ENSG00000213889 50 0 0 61 5 7.57576 ENSG00000259605 0 genome.wustl.edu 37 19 46268681 46268681 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 46268681 46268681 T C SNP ENSG00000259605 ENST00000559756 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC074212.5 Clone_based_vega_gene ENSG00000259605 151 0 0 97 47 32.6389 DMPK 0 genome.wustl.edu 37 19 46274916 46274916 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 46274916 46274916 G A SNP DMPK ENST00000343373 human ensembl 74_37 -1 known missense c.1540 p.R514C 0.010 pfam_Myotonic_dystrophy_kinase_coil 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 51 0 0 43 12 21.8182 NANOS2 0 genome.wustl.edu 37 19 46417622 46417622 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 46417622 46417622 C T SNP NANOS2 ENST00000341294 human ensembl 74_37 -1 known silent c.330 p.T110 0.633 pfam_Znf_nanos-typ pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 39 0 0 50 5 9.09091 HIF3A 0 genome.wustl.edu 37 19 46832549 46832549 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 46832549 46832549 C A SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.1526 p.P509H 0.936 pfam_HIF_alpha_subunit pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 110 0 0 74 22 22.9167 DPP9 0 genome.wustl.edu 37 19 4683643 4683643 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4683643 4683643 T C SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known splice_site c.2179-2 e17-2 1.000 - - - no_errors DPP9 HGNC ENSG00000142002 114 0 0 59 31 34.4444 STRN4 0 genome.wustl.edu 37 19 47228903 47228903 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 47228903 47228903 C T SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known silent c.1272 p.L424 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 72 0 0 45 18 28.5714 NPAS1 0 genome.wustl.edu 37 19 47548495 47548495 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 47548495 47548495 C T SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.1359 p.N453 0.024 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 51 0 0 42 13 23.6364 ZC3H4 0 genome.wustl.edu 37 19 47572412 47572412 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 47572412 47572412 C G SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.2335 p.E779Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 121 0 0 115 10 8 PLIN3 0 genome.wustl.edu 37 19 4847789 4847789 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4847789 4847789 C T SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known missense c.748 p.A250T 0.974 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 38 0 0 31 5 13.8889 GRIN2D 0 genome.wustl.edu 37 19 48917267 48917267 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 48917267 48917267 T C SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.1105 p.W369R 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 38 0 0 32 11 25.5814 GRWD1 0 genome.wustl.edu 37 19 48954305 48954305 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 48954305 48954305 C T SNP GRWD1 ENST00000253237 human ensembl 74_37 +1 known silent c.840 p.C280 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GRWD1 HGNC ENSG00000105447 113 1 0.877193 73 23 23.9583 CYTH2 0 genome.wustl.edu 37 19 48982465 48982465 + Nonstop_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 48982465 48982465 T C SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known nonstop c.1201 p.*401R 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 99 0 0 87 11 11.2245 SPACA4 0 genome.wustl.edu 37 19 49110512 49110512 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49110512 49110512 G A SNP SPACA4 ENST00000321762 human ensembl 74_37 +1 known missense c.277 p.G93S 0.936 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors SPACA4 HGNC ENSG00000177202 20 0 0 11 6 35.2941 UHRF1 0 genome.wustl.edu 37 19 4932904 4932904 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4932904 4932904 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 69 0 0 47 14 22.9508 LHB 0 genome.wustl.edu 37 19 49519339 49519339 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49519339 49519339 G T SNP LHB ENST00000221421 human ensembl 74_37 -1 known missense c.412 p.L138I 1.000 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC ENSG00000104826 115 0 0 98 29 22.8346 TRPM4 0 genome.wustl.edu 37 19 49674846 49674846 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49674846 49674846 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.870 p.N290 0.382 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 88 0 0 76 4 5 SLC17A7 0 genome.wustl.edu 37 19 49933845 49933845 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49933845 49933845 C T SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.1614 p.P538 0.993 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 52 0 0 33 17 34 RPL13A 0 genome.wustl.edu 37 19 49993780 49993780 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49993780 49993780 G A SNP RPL13A ENST00000391857 human ensembl 74_37 +1 known missense c.203 p.R68Q 0.998 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 99 0 0 69 28 28.866 IRF3 0 genome.wustl.edu 37 19 50166731 50166731 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 50166731 50166731 T C SNP IRF3 ENST00000309877 human ensembl 74_37 -1 known missense c.206 p.D69G 0.916 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 56 0 0 37 18 32.7273 NAPSA 0 genome.wustl.edu 37 19 50862846 50862846 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 50862846 50862846 T C SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.850 p.T284A 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 106 0 0 60 23 27.7108 ASPDH 0 genome.wustl.edu 37 19 51015393 51015393 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51015393 51015393 C A SNP ASPDH ENST00000389208 human ensembl 74_37 -1 known missense c.808 p.A270S 0.964 NULL pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd - no_errors ASPDH HGNC ENSG00000204653 12 0 0 8 3 27.2727 SHANK1 0 genome.wustl.edu 37 19 51191207 51191207 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51191207 51191207 C A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.2281 p.D761Y 1.000 smart_PDZ pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 66 0 0 42 16 27.5862 KLK15 0 genome.wustl.edu 37 19 51330242 51330242 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51330242 51330242 C T SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.373 p.A125T 0.437 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 90 0 0 81 29 26.3636 KLK15 0 genome.wustl.edu 37 19 51330284 51330284 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51330284 51330284 G A SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.331 p.R111C 0.986 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 129 0 0 126 11 8.0292 KLK8 0 genome.wustl.edu 37 19 51503766 51503766 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51503766 51503766 C T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known silent c.279 p.A93 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 130 0 0 117 9 7.14286 IGLON5 0 genome.wustl.edu 37 19 51830340 51830340 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51830340 51830340 C T SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known missense c.653 p.P218L 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 60 0 0 51 14 21.5385 ENSG00000268889 0 genome.wustl.edu 37 19 51906826 51906826 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51906826 51906826 T C SNP ENSG00000268889 ENST00000600765 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2616J11.14 Clone_based_vega_gene ENSG00000268889 10 0 0 8 4 33.3333 SIGLEC8 0 genome.wustl.edu 37 19 51960986 51960986 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51960986 51960986 G T SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known silent c.462 p.T154 0.003 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 120 0 0 70 26 27.0833 SIGLEC5 0 genome.wustl.edu 37 19 52130901 52130901 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 52130901 52130901 G A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1096 p.R366W 0.040 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 29 0 0 24 8 25 SIGLEC5 0 genome.wustl.edu 37 19 52133152 52133152 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 52133152 52133152 G A SNP SIGLEC5 ENST00000570106 human ensembl 74_37 -1 known missense c.355 p.R119C 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 49 0 0 39 13 25 ZNF766 0 genome.wustl.edu 37 19 52794336 52794336 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 52794336 52794336 G A SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known missense c.1337 p.R446K 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 ZNF766 HGNC ENSG00000196214 87 0 0 64 6 8.57143 ZNF761 0 genome.wustl.edu 37 19 53952855 53952855 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 53952855 53952855 G A SNP ZNF761 ENST00000366293 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors ZNF761 HGNC ENSG00000160336 53 0 0 31 13 29.5455 CACNG7 0 genome.wustl.edu 37 19 54444820 54444820 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54444820 54444820 G A SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.521 p.R174H 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 122 0 0 110 27 19.708 CACNG7 0 genome.wustl.edu 37 19 54444845 54444845 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54444845 54444845 C A SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known silent c.546 p.A182 0.166 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 119 0 0 97 32 24.8062 CACNG7 0 genome.wustl.edu 37 19 54445522 54445522 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54445522 54445522 T C SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.803 p.L268P 1.000 prints_VDCC_g7su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 276 0 0 182 61 25.1029 TFPT 0 genome.wustl.edu 37 19 54611662 54611662 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54611662 54611662 G A SNP TFPT ENST00000391759 human ensembl 74_37 -1 known missense c.394 p.R132W 0.998 NULL NULL - no_errors TFPT HGNC ENSG00000105619 30 0 0 23 13 36.1111 TMC4 0 genome.wustl.edu 37 19 54664875 54664875 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54664875 54664875 G A SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known silent c.1809 p.S603 0.995 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 17 0 0 17 5 22.7273 LILRB2 0 genome.wustl.edu 37 19 54782342 54782342 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54782342 54782342 G A SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known silent c.1030 p.L344 0.834 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 123 0 0 71 46 39.3162 LENG8 0 genome.wustl.edu 37 19 54966171 54966171 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54966171 54966171 C T SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known nonsense c.721 p.R241* 0.999 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 65 0 0 36 13 26.5306 LILRA1 0 genome.wustl.edu 37 19 55107196 55107196 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55107196 55107196 T C SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.754 p.Y252H 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 133 0 0 147 10 6.36943 LILRB1 0 genome.wustl.edu 37 19 55144181 55144181 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55144181 55144181 C A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.928 p.P310T 0.129 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 110 0 0 78 27 25.7143 ENSG00000267149 0 genome.wustl.edu 37 19 55556410 55556410 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55556410 55556410 C T SNP ENSG00000267149 ENST00000585492 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-550B14.6 Clone_based_vega_gene ENSG00000267149 27 0 0 21 15 41.6667 RDH13 0 genome.wustl.edu 37 19 55559833 55559833 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55559833 55559833 G T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.522 p.S174 0.926 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 64 0 0 71 21 22.8261 PTPRH 0 genome.wustl.edu 37 19 55718172 55718172 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55718172 55718172 T C SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known silent c.237 p.T79 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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 PTPRH HGNC ENSG00000080031 129 0 0 121 24 16.5517 TMEM86B 0 genome.wustl.edu 37 19 55738637 55738637 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55738637 55738637 G A SNP TMEM86B ENST00000327042 human ensembl 74_37 -1 known missense c.593 p.A198V 0.949 pfam_YhhN pfam_YhhN - no_errors TMEM86B HGNC ENSG00000180089 22 0 0 17 5 22.7273 ZNF628 0 genome.wustl.edu 37 19 55993937 55993937 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55993937 55993937 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known silent c.1377 p.C459 0.986 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 24 0 0 20 11 35.4839 ZNF628 0 genome.wustl.edu 37 19 55995122 55995122 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55995122 55995122 C A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known silent c.2562 p.V854 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 101 0 0 54 13 19.403 ZNF579 0 genome.wustl.edu 37 19 56090214 56090214 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56090214 56090214 C T SNP ZNF579 ENST00000325421 human ensembl 74_37 -1 known silent c.792 p.P264 0.201 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 25 0 0 18 9 33.3333 ZNF581 0 genome.wustl.edu 37 19 56155974 56155974 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56155974 56155974 G A SNP ZNF581 ENST00000270451 human ensembl 74_37 +1 known missense c.37 p.A13T 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 19 0 0 15 3 16.6667 NLRP8 0 genome.wustl.edu 37 19 56466124 56466124 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56466124 56466124 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.700 p.A234T 0.014 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 133 0 0 88 43 32.8244 NLRP8 0 genome.wustl.edu 37 19 56466553 56466553 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56466553 56466553 G C SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1129 p.D377H 0.000 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 NLRP8 HGNC ENSG00000179709 114 0 0 103 7 6.36364 ZNF835 0 genome.wustl.edu 37 19 57175886 57175886 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 57175886 57175886 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.681 p.C227 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 44 0 0 28 15 34.8837 BSG 0 genome.wustl.edu 37 19 577839 577839 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 577839 577839 G A SNP BSG ENST00000333511 human ensembl 74_37 +1 known missense c.133 p.E45K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 14 0 0 7 5 41.6667 ZNF549 0 genome.wustl.edu 37 19 58049967 58049967 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 58049967 58049967 A G SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.1595 p.N532S 0.002 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 90 0 0 49 25 33.7838 ZNF324B 0 genome.wustl.edu 37 19 58966986 58966986 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 58966986 58966986 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.675 p.G225 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 58 0 0 37 12 24.4898 TRIM28 0 genome.wustl.edu 37 19 59060528 59060528 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 59060528 59060528 C A SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.1583 p.A528D 0.328 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 102 0 0 78 29 27.1028 CAPS 0 genome.wustl.edu 37 19 5915019 5915019 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 5915019 5915019 C T SNP CAPS ENST00000222125 human ensembl 74_37 +1 known silent c.330 p.D110 0.236 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS HGNC ENSG00000105519 127 0 0 112 39 25.8278 RANBP3 0 genome.wustl.edu 37 19 5941834 5941834 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 5941834 5941834 C T SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.295 p.G99S 0.993 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 72 0 0 51 18 26.087 RFX2 0 genome.wustl.edu 37 19 6047472 6047472 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 6047472 6047472 C T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known silent c.36 p.A12 0.354 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 22 0 0 12 7 36.8421 KHSRP 0 genome.wustl.edu 37 19 6417000 6417000 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 6417000 6417000 T C SNP KHSRP ENST00000398148 human ensembl 74_37 -1 known missense c.1180 p.R394G 0.014 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 81 0 0 74 4 5.12821 TUBB4A 0 genome.wustl.edu 37 19 6501365 6501365 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 6501365 6501365 G A SNP TUBB4A ENST00000598006 human ensembl 74_37 -1 putative missense c.167 p.P56L 0.006 NULL superfamily_Tubulin_FtsZ_GTPase - no_errors TUBB4A HGNC ENSG00000104833 44 0 0 31 11 26.1905 TNFSF14 0 genome.wustl.edu 37 19 6665335 6665335 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 6665335 6665335 C T SNP TNFSF14 ENST00000599359 human ensembl 74_37 -1 known missense c.325 p.G109R 0.028 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF14 HGNC ENSG00000125735 25 0 0 23 5 17.8571 PRSS57 0 genome.wustl.edu 37 19 694846 694846 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 694846 694846 C A SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.204 p.W68C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 28 0 0 19 3 13.6364 ARHGEF18 0 genome.wustl.edu 37 19 7509263 7509263 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 7509263 7509263 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.970 p.R324C 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 55 0 0 58 24 29.2683 MISP 0 genome.wustl.edu 37 19 757730 757730 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 757730 757730 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.784 p.R262C 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 53 0 0 50 11 18.0328 LRRC8E 0 genome.wustl.edu 37 19 7965099 7965099 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 7965099 7965099 C T SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known silent c.1692 p.S564 0.826 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 68 0 0 79 13 14.1304 FBN3 0 genome.wustl.edu 37 19 8156411 8156411 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8156411 8156411 C A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5969 p.G1990V 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 126 0 0 90 37 29.1339 FBN3 0 genome.wustl.edu 37 19 8186207 8186207 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8186207 8186207 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.3146 p.G1049D 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 61 0 0 55 8 12.6984 FBN3 0 genome.wustl.edu 37 19 8201336 8201336 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8201336 8201336 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.1281 p.T427 0.014 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 158 0 0 119 48 28.7425 CD320 0 genome.wustl.edu 37 19 8368790 8368790 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8368790 8368790 G A SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.451 p.R151C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 13 0 0 14 4 22.2222 MYO1F 0 genome.wustl.edu 37 19 8609306 8609306 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8609306 8609306 T C SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1399 p.T467A 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 49 0 0 59 11 15.7143 ADAMTS10 0 genome.wustl.edu 37 19 8654234 8654234 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8654234 8654234 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known nonsense c.2050 p.R684* 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 74 0 0 54 22 28.9474 MUC16 0 genome.wustl.edu 37 19 9057577 9057577 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 9057577 9057577 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.29869 p.T9957A 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 275 0 0 241 31 11.3971 MUC16 0 genome.wustl.edu 37 19 9066128 9066128 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 9066128 9066128 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.21318 p.T7106 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 99 0 0 76 23 23.2323 MUC16 0 genome.wustl.edu 37 19 9072308 9072308 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 9072308 9072308 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.15138 p.S5046 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 62 0 0 67 12 15.1899 MUC16 0 genome.wustl.edu 37 19 9090342 9090342 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 9090342 9090342 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.1473 p.G491 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 103 0 0 101 28 21.7054 AFF3 0 genome.wustl.edu 37 2 100210285 100210285 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 100210285 100210285 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1913 p.A638V 0.001 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 41 0 0 33 22 40 GRHL1 0 genome.wustl.edu 37 2 10095050 10095050 + Silent SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 10095050 10095050 G C SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known silent c.27 p.R9 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 41 0 0 18 11 37.931 IL1R2 0 genome.wustl.edu 37 2 102641109 102641109 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 102641109 102641109 G A SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.866 p.R289H 0.984 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 67 0 0 45 14 23.7288 FHL2 0 genome.wustl.edu 37 2 105990123 105990123 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 105990123 105990123 A G SNP FHL2 ENST00000322142 human ensembl 74_37 -1 known missense c.224 p.L75P 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL2 HGNC ENSG00000115641 57 0 0 46 15 24.5902 NCK2 0 genome.wustl.edu 37 2 106471695 106471695 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 106471695 106471695 A C SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.176 p.K59T 1.000 smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 31 0 0 30 8 21.0526 NCK2 0 genome.wustl.edu 37 2 106497875 106497875 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 106497875 106497875 C T SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known silent c.318 p.A106 0.975 pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 94 0 0 55 21 27.6316 SLC5A7 0 genome.wustl.edu 37 2 108604753 108604753 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 108604753 108604753 G T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.142 p.D48Y 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 70 0 0 52 20 27.7778 CCDC138 0 genome.wustl.edu 37 2 109411082 109411082 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 109411082 109411082 T G SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.481 p.C161G 0.000 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 49 0 0 36 12 25 SOWAHC 0 genome.wustl.edu 37 2 110373120 110373120 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 110373120 110373120 G A SNP SOWAHC ENST00000356454 human ensembl 74_37 +1 known missense c.1054 p.G352S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHC HGNC ENSG00000198142 108 0 0 68 37 35.2381 KCNF1 0 genome.wustl.edu 37 2 11052924 11052924 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 11052924 11052924 C T SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known silent c.372 p.D124 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 88 0 0 59 23 28.0488 TMEM87B 0 genome.wustl.edu 37 2 112865400 112865400 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 112865400 112865400 C A SNP TMEM87B ENST00000283206 human ensembl 74_37 +1 known silent c.1560 p.P520 0.998 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 14 0 0 15 4 21.0526 LPIN1 0 genome.wustl.edu 37 2 11905731 11905731 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 11905731 11905731 C T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known silent c.211 p.L71 0.314 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 135 1 0.735294 90 42 31.8182 MARCO 0 genome.wustl.edu 37 2 119726815 119726815 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 119726815 119726815 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.177 p.G59 0.000 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 110 0 0 62 11 15.0685 STEAP3 0 genome.wustl.edu 37 2 120005392 120005392 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 120005392 120005392 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known silent c.660 p.P220 0.001 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 65 0 0 29 21 42 EPB41L5 0 genome.wustl.edu 37 2 120849180 120849180 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 120849180 120849180 A G SNP EPB41L5 ENST00000263713 human ensembl 74_37 +1 known missense c.1093 p.T365A 0.011 pfam_FERM-adjacent pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 59 0 0 40 10 20 GLI2 0 genome.wustl.edu 37 2 121684974 121684974 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 121684974 121684974 A G SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.186 p.L62 0.959 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 300 0 0 138 46 25 GLI2 0 genome.wustl.edu 37 2 121742161 121742161 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 121742161 121742161 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1798 p.R600C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 202 0 0 114 42 26.9231 CNTNAP5 0 genome.wustl.edu 37 2 125660579 125660579 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 125660579 125660579 T C SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3554 p.V1185A 0.000 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_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,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 24 0 0 23 11 32.3529 PROC 0 genome.wustl.edu 37 2 128186274 128186274 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 128186274 128186274 A G SNP PROC ENST00000453608 human ensembl 74_37 +1 known missense c.1303 p.M435V 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROC HGNC ENSG00000115718 187 0 0 189 17 8.25243 GPR17 0 genome.wustl.edu 37 2 128409243 128409243 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 128409243 128409243 C T SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known missense c.1018 p.L340F 0.999 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 150 0 0 95 33 25.7812 WDR33 0 genome.wustl.edu 37 2 128477600 128477600 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 128477600 128477600 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.1999 p.R667W 0.993 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 54 0 0 59 17 22.3684 GPR148 0 genome.wustl.edu 37 2 131487570 131487570 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 131487570 131487570 G T SNP GPR148 ENST00000309926 human ensembl 74_37 +1 known silent c.846 p.L282 0.686 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 122 0 0 108 6 5.26316 MZT2A 0 genome.wustl.edu 37 2 132241709 132241709 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 132241709 132241709 C T SNP MZT2A ENST00000309451 human ensembl 74_37 -1 known missense c.402 p.M134I 0.998 NULL NULL - no_errors MZT2A HGNC ENSG00000173272 129 0 0 101 23 18.5484 LYPD1 0 genome.wustl.edu 37 2 133427493 133427493 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 133427493 133427493 C A SNP LYPD1 ENST00000397463 human ensembl 74_37 -1 known missense c.13 p.G5C 1.000 NULL NULL - no_errors LYPD1 HGNC ENSG00000150551 63 0 0 44 11 20 ZRANB3 0 genome.wustl.edu 37 2 135988450 135988450 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 135988450 135988450 T C SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known silent c.1587 p.Q529 0.994 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 36 0 0 20 18 47.3684 LCT 0 genome.wustl.edu 37 2 136566784 136566784 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 136566784 136566784 A G SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.3133 p.Y1045H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 68 0 0 52 21 28.7671 THSD7B 0 genome.wustl.edu 37 2 137928468 137928468 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 137928468 137928468 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1683 p.L561 0.139 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 50 0 0 24 9 27.2727 LRP1B 0 genome.wustl.edu 37 2 141660497 141660497 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 141660497 141660497 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3758 p.T1253I 0.994 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 51 0 0 38 15 28.3019 LYPD6B 0 genome.wustl.edu 37 2 149987451 149987451 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 149987451 149987451 T C SNP LYPD6B ENST00000473975 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LYPD6B HGNC ENSG00000150556 73 0 0 61 18 22.7848 NEB 0 genome.wustl.edu 37 2 152490245 152490245 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 152490245 152490245 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9337 p.Y3113H 0.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 221 0 0 191 32 14.3498 NEB 0 genome.wustl.edu 37 2 152534219 152534219 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 152534219 152534219 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3634 p.D1212N 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 246 0 0 172 33 16.0976 CACNB4 0 genome.wustl.edu 37 2 152695797 152695797 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 152695797 152695797 C T SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known missense c.1399 p.A467T 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 59 0 0 42 7 14.2857 NR4A2 0 genome.wustl.edu 37 2 157182439 157182439 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 157182439 157182439 G A SNP NR4A2 ENST00000429376 human ensembl 74_37 -1 putative missense c.1321 p.R441C 0.572 NULL pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR4A2 HGNC ENSG00000153234 56 0 0 45 15 25 DDX1 0 genome.wustl.edu 37 2 15746096 15746096 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 15746096 15746096 T C SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known silent c.648 p.F216 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 90 0 0 61 13 17.5676 GALNT5 0 genome.wustl.edu 37 2 158162273 158162273 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 158162273 158162273 G C SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.2452 p.A818P 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 41 0 0 26 3 10.3448 CYTIP 0 genome.wustl.edu 37 2 158272539 158272539 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 158272539 158272539 T G SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known missense c.730 p.S244R 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 48 0 0 42 21 33.3333 PKP4 0 genome.wustl.edu 37 2 159481597 159481597 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 159481597 159481597 G A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.811 p.A271T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 57 0 0 36 20 35.7143 BAZ2B 0 genome.wustl.edu 37 2 160193529 160193529 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 160193529 160193529 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.5720 p.R1907H 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 84 0 0 66 5 7.04225 BAZ2B 0 genome.wustl.edu 37 2 160206342 160206342 + Silent SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 160206342 160206342 A C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.4740 p.T1580 0.204 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 94 0 0 99 25 20.1613 BAZ2B 0 genome.wustl.edu 37 2 160335108 160335108 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 160335108 160335108 A G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known silent c.123 p.L41 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 121 0 0 134 8 5.6338 DPP4 0 genome.wustl.edu 37 2 162849888 162849888 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 162849888 162849888 T C SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.2206 p.T736A 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 92 0 0 58 16 21.6216 KCNH7 0 genome.wustl.edu 37 2 163228379 163228379 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 163228379 163228379 A C SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.3551 p.L1184R 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 49 0 0 22 10 31.25 KCNH7 0 genome.wustl.edu 37 2 163374321 163374321 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 163374321 163374321 G A SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.811 p.R271W 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 71 0 0 58 10 14.7059 FIGN 0 genome.wustl.edu 37 2 164467697 164467697 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 164467697 164467697 A G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known silent c.645 p.H215 0.999 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 68 0 0 37 21 36.2069 SLC38A11 0 genome.wustl.edu 37 2 165754992 165754992 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 165754992 165754992 C T SNP SLC38A11 ENST00000409149 human ensembl 74_37 -1 known silent c.1176 p.Q392 0.613 NULL pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 49 0 0 37 5 11.9048 SCN3A 0 genome.wustl.edu 37 2 166032691 166032691 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 166032691 166032691 T C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.214 p.M72V 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 66 0 0 62 6 8.82353 SCN1A 0 genome.wustl.edu 37 2 166848647 166848647 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 166848647 166848647 C A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5138 p.S1713I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 222 0 0 160 24 13.0435 SCN1A 0 genome.wustl.edu 37 2 166894547 166894547 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 166894547 166894547 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.2685 p.L895 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 131 0 0 86 37 30.0813 XIRP2 0 genome.wustl.edu 37 2 167760318 167760318 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 167760318 167760318 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.326 p.R109H 0.991 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 76 0 0 47 18 27.6923 XIRP2 0 genome.wustl.edu 37 2 168103103 168103103 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 168103103 168103103 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5201 p.K1734T 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 41 0 0 34 16 32 XIRP2 0 genome.wustl.edu 37 2 168110607 168110607 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 168110607 168110607 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10621 p.P3541S 0.997 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 44 0 0 21 9 30 LRP2 0 genome.wustl.edu 37 2 170103435 170103435 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 170103435 170103435 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.2970 p.P990 0.255 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 66 0 0 38 14 26.9231 LRP2 0 genome.wustl.edu 37 2 170112738 170112738 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 170112738 170112738 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.2648 p.R883Q 0.997 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 34 0 0 46 12 20.6897 SP5 0 genome.wustl.edu 37 2 171573716 171573716 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 171573716 171573716 C T SNP SP5 ENST00000375281 human ensembl 74_37 +1 known silent c.999 p.C333 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 20 0 0 22 7 24.1379 TLK1 0 genome.wustl.edu 37 2 171853207 171853207 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 171853207 171853207 C A SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known nonsense c.2080 p.E694* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TLK1 HGNC ENSG00000198586 41 0 0 32 9 21.9512 DLX1 0 genome.wustl.edu 37 2 172950494 172950494 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 172950494 172950494 T C SNP DLX1 ENST00000361725 human ensembl 74_37 +1 known missense c.89 p.M30T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX1 HGNC ENSG00000144355 164 0 0 166 12 6.74157 ATF2 0 genome.wustl.edu 37 2 175986238 175986238 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 175986238 175986238 G T SNP ATF2 ENST00000264110 human ensembl 74_37 -1 known missense c.133 p.H45N 1.000 pirsf_TF_cAMP-dep,pfscan_Znf_C2H2 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF2 HGNC ENSG00000115966 52 0 0 27 6 18.1818 HOXD12 0 genome.wustl.edu 37 2 176965308 176965308 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 176965308 176965308 G A SNP HOXD12 ENST00000404162 human ensembl 74_37 +1 novel missense c.661 p.A221T 1.000 NULL NULL - no_errors HOXD12 HGNC ENSG00000170178 18 0 0 17 6 26.087 HOXD9 0 genome.wustl.edu 37 2 176987685 176987685 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 176987685 176987685 C T SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known silent c.189 p.F63 0.966 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 20 0 0 12 4 25 HOXD9 0 genome.wustl.edu 37 2 176988179 176988179 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 176988179 176988179 C T SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known missense c.683 p.A228V 0.977 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 9 0 0 9 7 43.75 TTN 0 genome.wustl.edu 37 2 179397822 179397822 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179397822 179397822 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.95816 p.A31939V 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 221 0 0 177 12 6.34921 TTN 0 genome.wustl.edu 37 2 179398978 179398978 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179398978 179398978 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.94660 p.G31554* 1.000 superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 118 0 0 70 38 35.1852 TTN 0 genome.wustl.edu 37 2 179404476 179404476 + Silent SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179404476 179404476 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.90612 p.T30204 0.994 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 64 0 0 36 17 32.0755 TTN 0 genome.wustl.edu 37 2 179412829 179412829 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179412829 179412829 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.85820 p.R28607H 0.979 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 174 0 0 159 11 6.47059 TTN 0 genome.wustl.edu 37 2 179497513 179497513 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179497513 179497513 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.35516 p.P11839H 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 113 0 0 73 26 26.2626 TTN 0 genome.wustl.edu 37 2 179527143 179527143 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179527143 179527143 G A SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.36961 p.P12321S 0.949 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 26 0 0 9 10 52.6316 TTN 0 genome.wustl.edu 37 2 179596093 179596093 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179596093 179596093 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13668 p.Y4556 0.920 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 240 0 0 162 47 22.488 SSFA2 0 genome.wustl.edu 37 2 182784161 182784161 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 182784161 182784161 C A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known silent c.3132 p.S1044 0.088 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 124 0 0 94 48 33.8028 FRZB 0 genome.wustl.edu 37 2 183730898 183730898 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 183730898 183730898 T C SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.383 p.H128R 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 37 0 0 24 10 29.4118 FRZB 0 genome.wustl.edu 37 2 183731029 183731029 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 183731029 183731029 C T SNP FRZB ENST00000295113 human ensembl 74_37 -1 known silent c.252 p.L84 0.997 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 76 0 0 71 5 6.57895 FAM171B 0 genome.wustl.edu 37 2 187559047 187559047 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 187559047 187559047 G A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known silent c.147 p.Q49 0.634 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 22 0 0 13 11 45.8333 COL5A2 0 genome.wustl.edu 37 2 189904121 189904121 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 189904121 189904121 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.3802 p.V1268I 0.994 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 61 0 0 35 10 22.2222 OSGEPL1 0 genome.wustl.edu 37 2 190618642 190618642 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 190618642 190618642 C A SNP OSGEPL1 ENST00000264151 human ensembl 74_37 -1 known silent c.963 p.L321 1.000 pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 24 0 0 20 3 13.0435 PMS1 0 genome.wustl.edu 37 2 190718723 190718723 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 190718723 190718723 T C SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.881 p.V294A 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 37 0 0 32 3 8.57143 HECW2 0 genome.wustl.edu 37 2 197183867 197183867 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 197183867 197183867 C A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.1747 p.G583W 0.316 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 69 0 0 60 5 7.69231 RFTN2 0 genome.wustl.edu 37 2 198436793 198436793 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 198436793 198436793 C A SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known missense c.1445 p.R482L 0.942 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 62 0 0 56 5 8.19672 SGOL2 0 genome.wustl.edu 37 2 201397863 201397863 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 201397863 201397863 G A SNP SGOL2 ENST00000460534 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SGOL2 HGNC ENSG00000163535 61 0 0 55 6 9.83607 ORC2 0 genome.wustl.edu 37 2 201798648 201798648 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 201798648 201798648 A G SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known missense c.758 p.L253S 1.000 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 48 0 0 46 6 11.5385 ENSG00000232719 0 genome.wustl.edu 37 2 201967342 201967342 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 201967342 201967342 T C SNP ENSG00000232719 ENST00000448256 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-13J8.1 Clone_based_vega_gene ENSG00000232719 17 0 0 9 5 35.7143 CASP8 0 genome.wustl.edu 37 2 202131283 202131283 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 202131283 202131283 T C SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.251 p.L84P 0.999 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 67 0 0 42 9 17.6471 TMEM237 0 genome.wustl.edu 37 2 202507331 202507331 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 202507331 202507331 C T SNP TMEM237 ENST00000409444 human ensembl 74_37 -1 known splice_site c.18+1 e1+1 1.000 - - - no_errors TMEM237 HGNC ENSG00000155755 27 0 0 43 5 10.4167 ALS2 0 genome.wustl.edu 37 2 202590095 202590095 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 202590095 202590095 C T SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.3331 p.G1111S 1.000 pfam_MORN,smart_MORN pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 181 0 0 126 42 25 BMPR2 0 genome.wustl.edu 37 2 203378520 203378520 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 203378520 203378520 T C SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.497 p.V166A 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 62 0 0 39 17 30.3571 ABI2 0 genome.wustl.edu 37 2 204259439 204259439 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 204259439 204259439 C T SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.595 p.R199C 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 139 0 0 102 28 21.5385 C2orf43 0 genome.wustl.edu 37 2 20974640 20974640 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 20974640 20974640 A T SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.398 p.L133H 1.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 102 0 0 95 5 5 C2orf43 0 genome.wustl.edu 37 2 20990056 20990056 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 20990056 20990056 G A SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.257 p.A86V 0.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 107 1 0.925926 93 40 30.0752 KANSL1L 0 genome.wustl.edu 37 2 211018420 211018420 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 211018420 211018420 A G SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.887 p.V296A 0.372 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 95 0 0 69 48 41.0256 APOB 0 genome.wustl.edu 37 2 21228843 21228843 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 21228843 21228843 A G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.10897 p.W3633R 0.994 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 44 0 0 20 10 33.3333 APOB 0 genome.wustl.edu 37 2 21242772 21242772 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 21242772 21242772 G C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.2822 p.T941R 0.799 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 70 0 0 48 17 26.1538 ERBB4 0 genome.wustl.edu 37 2 212812286 212812286 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 212812286 212812286 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.290 p.L97P 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 27 0 0 18 6 25 ERBB4 0 genome.wustl.edu 37 2 212989563 212989563 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 212989563 212989563 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.148 p.R50C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 66 0 0 35 30 46.1538 FN1 0 genome.wustl.edu 37 2 216288119 216288119 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 216288119 216288119 T C SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.1347 p.T449 0.000 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 56 0 0 69 4 5.47945 C2orf62 0 genome.wustl.edu 37 2 219221845 219221845 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 219221845 219221845 C T SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known missense c.53 p.S18L 0.001 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 85 0 0 90 9 9.09091 CYP27A1 0 genome.wustl.edu 37 2 219674352 219674352 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 219674352 219674352 A T SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.308 p.Q103L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 121 0 0 85 23 21.2963 NHEJ1 0 genome.wustl.edu 37 2 219941984 219941984 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 219941984 219941984 G T SNP NHEJ1 ENST00000409720 human ensembl 74_37 -1 known missense c.809 p.P270H 0.194 NULL pfam_XLF/Cernunnos - no_errors NHEJ1 HGNC ENSG00000187736 49 0 0 40 13 24.5283 ATG9A 0 genome.wustl.edu 37 2 220087407 220087407 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220087407 220087407 G A SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.1808 p.A603V 1.000 NULL pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 298 0 0 250 19 7.0632 ANKZF1 0 genome.wustl.edu 37 2 220097230 220097230 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220097230 220097230 C T SNP ANKZF1 ENST00000323348 human ensembl 74_37 +1 known missense c.383 p.S128L 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 72 0 0 47 12 20.339 ANKZF1 0 genome.wustl.edu 37 2 220099718 220099718 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220099718 220099718 C T SNP ANKZF1 ENST00000323348 human ensembl 74_37 +1 known missense c.1375 p.L459F 0.135 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 66 0 0 21 24 53.3333 DNPEP 0 genome.wustl.edu 37 2 220251035 220251035 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220251035 220251035 C T SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known silent c.432 p.L144 1.000 pfam_Peptidase_M18,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 162 0 0 149 13 8.02469 DNPEP 0 genome.wustl.edu 37 2 220251118 220251118 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220251118 220251118 G A SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known missense c.349 p.R117C 0.999 pfam_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 107 0 0 54 77 58.7786 SPEG 0 genome.wustl.edu 37 2 220313050 220313050 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220313050 220313050 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.1170 p.S390 0.868 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 21 0 0 24 5 17.2414 GMPPA 0 genome.wustl.edu 37 2 220368861 220368861 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220368861 220368861 C T SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known silent c.546 p.G182 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 152 0 0 59 43 42.1569 OBSL1 0 genome.wustl.edu 37 2 220435508 220435508 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220435508 220435508 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known silent c.447 p.C149 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 10 0 0 6 3 33.3333 EPHA4 0 genome.wustl.edu 37 2 222428510 222428510 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 222428510 222428510 A G SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.764 p.V255A 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 122 0 0 91 11 10.7843 SCG2 0 genome.wustl.edu 37 2 224463092 224463092 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 224463092 224463092 G T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known silent c.909 p.L303 0.549 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 133 0 0 133 8 5.67376 RHBDD1 0 genome.wustl.edu 37 2 227729646 227729646 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 227729646 227729646 G A SNP RHBDD1 ENST00000341329 human ensembl 74_37 +1 known nonsense c.237 p.W79* 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC ENSG00000144468 127 0 0 89 17 16.0377 COL4A4 0 genome.wustl.edu 37 2 227919310 227919310 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 227919310 227919310 C A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known nonsense c.2860 p.G954* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 47 0 0 22 35 61.4035 COL4A4 0 genome.wustl.edu 37 2 227920786 227920786 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 227920786 227920786 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2591 p.G864E 0.995 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 74 0 0 66 4 5.71429 COL4A3 0 genome.wustl.edu 37 2 228154792 228154792 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 228154792 228154792 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.3058 p.M1020V 0.976 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 62 0 0 34 39 53.4247 MFF 0 genome.wustl.edu 37 2 228207513 228207513 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 228207513 228207513 C T SNP MFF ENST00000353339 human ensembl 74_37 +1 known missense c.571 p.P191S 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 73 0 0 61 6 8.95522 SPHKAP 0 genome.wustl.edu 37 2 228884188 228884188 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 228884188 228884188 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1382 p.A461V 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 80 0 0 74 19 20.4301 SP110 0 genome.wustl.edu 37 2 231036427 231036427 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 231036427 231036427 C T SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.1872 p.T624 0.000 superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 55 0 0 74 7 8.64198 SP140 0 genome.wustl.edu 37 2 231176177 231176177 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 231176177 231176177 C T SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.2372 p.A791V 0.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 39 0 0 27 4 12.9032 SP100 0 genome.wustl.edu 37 2 231327216 231327216 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 231327216 231327216 C T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1040 p.A347V 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 54 0 0 40 11 21.5686 C2orf57 0 genome.wustl.edu 37 2 232458288 232458288 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 232458288 232458288 C T SNP C2orf57 ENST00000313965 human ensembl 74_37 +1 known missense c.626 p.A209V 0.000 NULL NULL - no_errors C2orf57 HGNC ENSG00000177673 109 0 0 95 32 25.1969 PDE6D 0 genome.wustl.edu 37 2 232597730 232597730 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 232597730 232597730 T C SNP PDE6D ENST00000287600 human ensembl 74_37 -1 known missense c.385 p.I129V 1.000 pfam_GMP_PDE_delta,superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu pfam_GMP_PDE_delta,superfamily_Ig_E-set,pirsf_Rhodop-sen_GMP-Pdiesterase_dsu - no_errors PDE6D HGNC ENSG00000156973 89 0 0 62 7 10.1449 GIGYF2 0 genome.wustl.edu 37 2 233681683 233681683 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 233681683 233681683 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.2377 p.R793* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 237 1 0.420168 152 50 24.7525 NEU2 0 genome.wustl.edu 37 2 233897495 233897495 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 233897495 233897495 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known silent c.114 p.A38 0.002 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 78 0 0 29 46 61.3333 NEU2 0 genome.wustl.edu 37 2 233899254 233899254 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 233899254 233899254 C A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.630 p.H210Q 0.022 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 87 0 0 87 9 9.375 NEU2 0 genome.wustl.edu 37 2 233899485 233899485 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 233899485 233899485 C T SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known silent c.861 p.G287 0.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 93 0 0 71 6 7.79221 UGT1A5 0 genome.wustl.edu 37 2 234621913 234621913 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 234621913 234621913 T C SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known silent c.276 p.L92 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 110 0 0 46 45 49.4505 UGT1A3 0 genome.wustl.edu 37 2 234638243 234638243 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 234638243 234638243 C T SNP UGT1A3 ENST00000482026 human ensembl 74_37 +1 known silent c.471 p.C157 0.993 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 222 0 0 63 86 57.7181 HJURP 0 genome.wustl.edu 37 2 234750828 234750828 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 234750828 234750828 T C SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.598 p.K200E 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 64 0 0 49 22 30.9859 GBX2 0 genome.wustl.edu 37 2 237075079 237075079 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 237075079 237075079 G A SNP GBX2 ENST00000551105 human ensembl 74_37 -1 novel missense c.562 p.R188W 0.913 NULL NULL - no_errors GBX2 HGNC ENSG00000168505 142 0 0 96 25 20.6612 PER2 0 genome.wustl.edu 37 2 239164366 239164366 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 239164366 239164366 A G SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.2252 p.L751P 0.004 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 115 0 0 107 8 6.95652 HDAC4 0 genome.wustl.edu 37 2 239976531 239976531 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 239976531 239976531 T C SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known splice_site c.2989-2 e24-2 0.999 - - - no_errors HDAC4 HGNC ENSG00000068024 74 0 0 81 6 6.89655 HDAC4 0 genome.wustl.edu 37 2 240036772 240036772 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 240036772 240036772 C A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known nonsense c.1753 p.E585* 0.998 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 92 0 0 77 6 7.22892 GPR35 0 genome.wustl.edu 37 2 241569724 241569724 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 241569724 241569724 C T SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known missense c.448 p.R150W 0.855 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 49 0 0 28 31 52.5424 KIF1A 0 genome.wustl.edu 37 2 241726716 241726716 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 241726716 241726716 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.381 p.F127 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 92 0 0 50 51 50.495 POMC 0 genome.wustl.edu 37 2 25384009 25384009 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 25384009 25384009 G A SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.745 p.P249S 1.000 pfam_Opioid_neuropept pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 44 0 0 37 5 11.9048 GPR113 0 genome.wustl.edu 37 2 26535824 26535824 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 26535824 26535824 C T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.1043 p.R348H 0.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 27 0 0 12 4 25 EMILIN1 0 genome.wustl.edu 37 2 27306679 27306679 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27306679 27306679 T C SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known missense c.2240 p.L747P 0.993 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 82 0 0 68 13 16.0494 ATRAID 0 genome.wustl.edu 37 2 27436156 27436156 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27436156 27436156 A G SNP ATRAID ENST00000380171 human ensembl 74_37 +1 known missense c.376 p.T126A 0.998 NULL pfscan_EG-like_dom - no_errors ATRAID HGNC ENSG00000138085 67 0 0 54 4 6.89655 ATRAID 0 genome.wustl.edu 37 2 27438343 27438343 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27438343 27438343 G T SNP ATRAID ENST00000380171 human ensembl 74_37 +1 known missense c.460 p.D154Y 1.000 NULL pfscan_EG-like_dom - no_errors ATRAID HGNC ENSG00000138085 83 0 0 59 6 9.23077 CAD 0 genome.wustl.edu 37 2 27463982 27463982 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27463982 27463982 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.5695 p.A1899T 0.998 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 227 0 0 165 29 14.9485 GTF3C2 0 genome.wustl.edu 37 2 27560869 27560869 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27560869 27560869 G A SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known nonsense c.874 p.R292* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 267 0 0 197 66 25.0951 RBKS 0 genome.wustl.edu 37 2 28065937 28065937 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 28065937 28065937 C A SNP RBKS ENST00000302188 human ensembl 74_37 -1 known nonsense c.511 p.G171* 1.000 pfam_PfkB_dom,tigrfam_D_ribokin_bac pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac - no_errors RBKS HGNC ENSG00000171174 31 0 0 32 15 31.9149 ALK 0 genome.wustl.edu 37 2 29462640 29462640 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 29462640 29462640 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.2261 p.S754F 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 66 0 0 49 5 9.25926 EHD3 0 genome.wustl.edu 37 2 31483400 31483400 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 31483400 31483400 A G SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.527 p.E176G 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 98 0 0 90 8 8.16327 XDH 0 genome.wustl.edu 37 2 31573001 31573001 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 31573001 31573001 G T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2720 p.P907H 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 172 0 0 146 8 5.19481 SPAST 0 genome.wustl.edu 37 2 32379525 32379525 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 32379525 32379525 A G SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.1811 p.Y604C 1.000 superfamily_P-loop_NTPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 44 0 0 29 12 29.2683 VIT 0 genome.wustl.edu 37 2 37041389 37041389 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 37041389 37041389 C T SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.1967 p.T656I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 83 0 0 54 21 28 HEATR5B 0 genome.wustl.edu 37 2 37234399 37234399 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 37234399 37234399 T C SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.4571 p.Y1524C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 108 0 0 67 22 24.7191 ATL2 0 genome.wustl.edu 37 2 38526463 38526463 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 38526463 38526463 C T SNP ATL2 ENST00000378954 human ensembl 74_37 -1 known missense c.1135 p.A379T 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 34 0 0 16 7 30.4348 CDKL4 0 genome.wustl.edu 37 2 39417505 39417505 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 39417505 39417505 T G SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.593 p.Q198P 0.928 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL4 HGNC ENSG00000205111 122 0 0 74 22 22.9167 SRBD1 0 genome.wustl.edu 37 2 45616428 45616428 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 45616428 45616428 C T SNP SRBD1 ENST00000490133 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SRBD1 HGNC ENSG00000068784 40 0 0 28 12 30 FBXO11 0 genome.wustl.edu 37 2 48050315 48050315 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 48050315 48050315 A G SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.1583 p.V528A 1.000 superfamily_F-box_dom,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 42 0 0 21 13 38.2353 FOXN2 0 genome.wustl.edu 37 2 48602442 48602442 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 48602442 48602442 C T SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known nonsense c.1156 p.R386* 0.004 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 32 0 0 23 12 34.2857 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808775 48808775 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 48808775 48808775 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1003 p.V335I 0.969 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 99 0 0 93 24 20.5128 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808931 48808931 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 48808931 48808931 C A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1159 p.L387I 0.811 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 51 0 0 52 16 23.5294 NRXN1 0 genome.wustl.edu 37 2 50318472 50318472 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 50318472 50318472 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3683 p.R1228H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 180 0 0 169 13 7.14286 CLHC1 0 genome.wustl.edu 37 2 55408858 55408858 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 55408858 55408858 C A SNP CLHC1 ENST00000401408 human ensembl 74_37 -1 known missense c.1029 p.K343N 0.992 superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 21 0 0 14 3 17.6471 SERTAD2 0 genome.wustl.edu 37 2 64863313 64863313 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 64863313 64863313 T C SNP SERTAD2 ENST00000313349 human ensembl 74_37 -1 known missense c.693 p.I231M 0.976 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 107 0 0 61 20 24.6914 CEP68 0 genome.wustl.edu 37 2 65300081 65300081 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 65300081 65300081 A G SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known silent c.1851 p.E617 0.558 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 146 0 0 105 38 26.5734 SPRED2 0 genome.wustl.edu 37 2 65659116 65659116 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 65659116 65659116 G T SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known silent c.6 p.T2 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 63 0 0 32 16 33.3333 ATP6V1B1 0 genome.wustl.edu 37 2 71187161 71187161 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 71187161 71187161 G A SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.538 p.G180S 0.997 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 66 0 0 44 23 34.3284 MPHOSPH10 0 genome.wustl.edu 37 2 71365665 71365665 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 71365665 71365665 A G SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known missense c.1144 p.K382E 1.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 33 0 0 35 2 5.40541 DYSF 0 genome.wustl.edu 37 2 71743310 71743310 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 71743310 71743310 A G SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.886 p.T296A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 43 0 0 40 4 9.09091 RAB11FIP5 0 genome.wustl.edu 37 2 73316315 73316315 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 73316315 73316315 C A SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known missense c.560 p.R187M 0.994 superfamily_C2_dom pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 252 0 0 189 13 6.43564 EGR4 0 genome.wustl.edu 37 2 73519471 73519471 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 73519471 73519471 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.884 p.S295L 0.189 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 24 0 0 24 13 35.1351 ALMS1 0 genome.wustl.edu 37 2 73800417 73800417 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 73800417 73800417 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known nonsense c.11410 p.R3804* 0.790 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 70 0 0 42 18 30 TET3 0 genome.wustl.edu 37 2 74327752 74327752 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 74327752 74327752 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.3432 p.Y1144 0.005 NULL NULL - no_errors TET3 HGNC ENSG00000187605 34 0 0 21 17 44.7368 DCTN1 0 genome.wustl.edu 37 2 74592786 74592786 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 74592786 74592786 T C SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known splice_site c.2887-2 e25-2 1.000 - - - no_errors DCTN1 HGNC ENSG00000204843 84 0 0 68 4 5.55556 DCTN1 0 genome.wustl.edu 37 2 74593706 74593706 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 74593706 74593706 C A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.2508 p.W836C 1.000 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 229 0 0 150 49 24.6231 CCDC142 0 genome.wustl.edu 37 2 74708370 74708370 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 74708370 74708370 C T SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.1238 p.R413Q 0.001 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 82 0 0 70 25 26.3158 CCDC142 0 genome.wustl.edu 37 2 74709916 74709916 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 74709916 74709916 G A SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.49 p.P17S 0.001 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 129 0 0 117 8 6.4 EVA1A 0 genome.wustl.edu 37 2 75720461 75720461 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 75720461 75720461 G A SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known silent c.360 p.R120 0.555 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 63 0 0 69 5 6.75676 LRRTM1 0 genome.wustl.edu 37 2 80529656 80529656 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 80529656 80529656 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1289 p.T430M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 71 0 0 69 4 5.47945 LRRTM1 0 genome.wustl.edu 37 2 80529700 80529700 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 80529700 80529700 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.1245 p.G415 0.980 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 60 0 0 41 26 38.806 LRRTM1 0 genome.wustl.edu 37 2 80529904 80529904 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 80529904 80529904 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.1041 p.Y347 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 32 0 0 17 6 26.087 TRABD2A 0 genome.wustl.edu 37 2 85051310 85051310 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 85051310 85051310 G T SNP TRABD2A ENST00000409520 human ensembl 74_37 -1 known silent c.1101 p.T367 0.000 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 36 0 0 39 4 9.30233 POLR1A 0 genome.wustl.edu 37 2 86272456 86272456 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 86272456 86272456 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known nonsense c.2914 p.R972* 0.999 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 74 0 0 60 4 6.25 PTCD3 0 genome.wustl.edu 37 2 86352131 86352131 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 86352131 86352131 G A SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known missense c.730 p.A244T 1.000 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 22 0 0 16 9 36 REEP1 0 genome.wustl.edu 37 2 86444208 86444208 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 86444208 86444208 C T SNP REEP1 ENST00000541910 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP1 HGNC ENSG00000068615 69 0 0 45 10 18.1818 KDM3A 0 genome.wustl.edu 37 2 86697506 86697506 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 86697506 86697506 T G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.1699 p.F567V 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 61 0 0 52 16 23.5294 KDM3A 0 genome.wustl.edu 37 2 86709698 86709698 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 86709698 86709698 A G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.2803 p.S935G 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 66 0 0 45 12 21.0526 CHMP3 0 genome.wustl.edu 37 2 86737479 86737479 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 86737479 86737479 A G SNP CHMP3 ENST00000439940 human ensembl 74_37 -1 known splice_site c.495+2 e4+2 0.999 - - - no_errors CHMP3 HGNC ENSG00000115561 70 0 0 51 23 31.0811 KIDINS220 0 genome.wustl.edu 37 2 8897892 8897892 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 8897892 8897892 G A SNP KIDINS220 ENST00000319688 human ensembl 74_37 -1 known nonsense c.3040 p.R1014* 0.008 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 45 0 0 23 8 25.8065 ANKRD36BP2 0 genome.wustl.edu 37 2 89103957 89103957 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 89103957 89103957 G A SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 10 0 0 8 11 57.8947 ANKRD20A8P 0 genome.wustl.edu 37 2 95497832 95497832 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 95497832 95497832 C T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.114 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 197 0 0 152 9 5.59006 ADAM17 0 genome.wustl.edu 37 2 9630330 9630330 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 9630330 9630330 A G SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.2451 p.V817 0.282 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 41 0 0 27 12 30.7692 ADRA2B 0 genome.wustl.edu 37 2 96781640 96781640 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 96781640 96781640 C T SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known silent c.249 p.T83 0.995 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_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 40 0 0 27 13 32.5 SNRNP200 0 genome.wustl.edu 37 2 96949574 96949574 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 96949574 96949574 C T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.4561 p.V1521I 0.999 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 28 0 0 17 6 26.087 SEMA4C 0 genome.wustl.edu 37 2 97526493 97526493 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 97526493 97526493 C T SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.2372 p.R791H 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 165 0 0 111 32 22.3776 INPP4A 0 genome.wustl.edu 37 2 99204009 99204009 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 99204009 99204009 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known silent c.2872 p.L958 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 86 0 0 63 23 26.7442 MGAT4A 0 genome.wustl.edu 37 2 99256419 99256419 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 99256419 99256419 G T SNP MGAT4A ENST00000264968 human ensembl 74_37 -1 known missense c.1174 p.P392T 1.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 61 0 0 42 13 23.6364 SNPH 0 genome.wustl.edu 37 20 1285934 1285934 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 1285934 1285934 G A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.853 p.A285T 0.019 NULL NULL - no_errors SNPH HGNC ENSG00000101298 64 0 0 80 22 21.5686 SDCBP2 0 genome.wustl.edu 37 20 1293019 1293019 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 1293019 1293019 C T SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.694 p.V232M 0.314 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 39 0 0 27 5 15.625 RRBP1 0 genome.wustl.edu 37 20 17617291 17617291 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 17617291 17617291 C T SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.2268 p.T756 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 170 1 0.584795 176 44 20 SIRPA 0 genome.wustl.edu 37 20 1903215 1903215 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 1903215 1903215 G A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known silent c.1011 p.G337 0.008 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 43 0 0 62 4 6.06061 SLC24A3 0 genome.wustl.edu 37 20 19665750 19665750 + Nonsense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 19665750 19665750 A T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known nonsense c.1069 p.R357* 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 90 0 0 53 77 59.2308 RIN2 0 genome.wustl.edu 37 20 19981514 19981514 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 19981514 19981514 A G SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known silent c.2769 p.K923 0.997 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 61 0 0 112 6 5.08475 STK35 0 genome.wustl.edu 37 20 2097715 2097715 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 2097715 2097715 A G SNP STK35 ENST00000381482 human ensembl 74_37 +1 known silent c.1296 p.T432 0.523 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK35 HGNC ENSG00000125834 69 0 0 102 6 5.55556 XRN2 0 genome.wustl.edu 37 20 21307218 21307218 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 21307218 21307218 C A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known silent c.294 p.L98 0.979 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 46 0 0 20 28 58.3333 PAX1 0 genome.wustl.edu 37 20 21687127 21687127 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 21687127 21687127 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.338 p.R113H 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 77 0 0 97 22 18.4874 FOXA2 0 genome.wustl.edu 37 20 22563630 22563630 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 22563630 22563630 C A SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known missense c.250 p.A84S 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 49 0 0 94 13 12.1495 ZNF343 0 genome.wustl.edu 37 20 2474218 2474218 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 2474218 2474218 G A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known missense c.124 p.P42S 0.407 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF343 HGNC ENSG00000088876 42 0 0 59 9 13.2353 PYGB 0 genome.wustl.edu 37 20 25259723 25259723 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 25259723 25259723 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.1030 p.A344T 0.991 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 35 0 0 44 6 12 NINL 0 genome.wustl.edu 37 20 25462724 25462724 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 25462724 25462724 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1690 p.R564C 0.012 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 64 0 0 85 14 14.1414 C20orf141 0 genome.wustl.edu 37 20 2796244 2796244 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 2796244 2796244 C T SNP C20orf141 ENST00000380589 human ensembl 74_37 +1 known silent c.321 p.A107 0.711 NULL NULL - no_errors C20orf141 HGNC ENSG00000258713 45 0 0 52 10 16.129 PTPRA 0 genome.wustl.edu 37 20 3016331 3016331 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 3016331 3016331 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.2054 p.R685Q 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 36 0 0 56 6 9.67742 PTPRA 0 genome.wustl.edu 37 20 3017888 3017888 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 3017888 3017888 A G SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.2320 p.T774A 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 100 0 0 139 10 6.71141 TM9SF4 0 genome.wustl.edu 37 20 30729426 30729426 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 30729426 30729426 G A SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.356 p.R119Q 0.998 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 151 0 0 119 41 25.625 KIF3B 0 genome.wustl.edu 37 20 30904370 30904370 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 30904370 30904370 G A SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.1547 p.R516Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 39 0 0 45 10 18.1818 DNMT3B 0 genome.wustl.edu 37 20 31376725 31376725 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 31376725 31376725 C A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.720 p.P240 0.296 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 72 0 0 82 23 21.9048 LZTS3 0 genome.wustl.edu 37 20 3147499 3147499 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 3147499 3147499 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.311 p.R104Q 0.994 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 49 0 0 80 24 23.0769 LZTS3 0 genome.wustl.edu 37 20 3147675 3147675 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 3147675 3147675 G T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known silent c.135 p.A45 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 21 0 0 25 5 16.6667 CDK5RAP1 0 genome.wustl.edu 37 20 31980017 31980017 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 31980017 31980017 A G SNP CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known silent c.475 p.L159 0.929 pfam_Methylthiotransferase_N,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 68 0 0 70 8 10.2564 E2F1 0 genome.wustl.edu 37 20 32265335 32265335 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 32265335 32265335 A G SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known missense c.737 p.V246A 1.000 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 77 0 0 95 6 5.94059 ITCH 0 genome.wustl.edu 37 20 33030037 33030037 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 33030037 33030037 C T SNP ITCH ENST00000262650 human ensembl 74_37 +1 known silent c.1017 p.H339 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 69 0 0 36 20 35.7143 CEP250 0 genome.wustl.edu 37 20 34084485 34084485 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 34084485 34084485 A G SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.3247 p.S1083G 0.395 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 52 0 0 35 40 53.3333 SPAG4 0 genome.wustl.edu 37 20 34208807 34208807 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 34208807 34208807 C T SNP SPAG4 ENST00000374273 human ensembl 74_37 +1 known missense c.1177 p.P393S 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SPAG4 HGNC ENSG00000061656 87 0 0 95 17 15.1786 RBM12 0 genome.wustl.edu 37 20 34241803 34241803 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 34241803 34241803 T G SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known missense c.1442 p.E481A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 95 0 0 63 45 41.6667 PHF20 0 genome.wustl.edu 37 20 34435307 34435307 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 34435307 34435307 G A SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known nonsense c.291 p.W97* 1.000 smart_Tudor pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 40 0 0 37 4 9.7561 DLGAP4 0 genome.wustl.edu 37 20 35075283 35075283 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 35075283 35075283 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known nonsense c.1591 p.Q531* 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 49 0 0 45 10 18.1818 SOGA1 0 genome.wustl.edu 37 20 35444037 35444037 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 35444037 35444037 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.1808 p.R603H 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 15 0 0 18 11 37.931 SOGA1 0 genome.wustl.edu 37 20 35467741 35467741 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 35467741 35467741 G A SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.791 p.A264V 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 81 0 0 93 7 7 RBL1 0 genome.wustl.edu 37 20 35627182 35627182 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 35627182 35627182 T G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.3187 p.S1063R 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 47 0 0 31 7 18.4211 RBL1 0 genome.wustl.edu 37 20 35717480 35717480 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 35717480 35717480 G A SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.202 p.R68C 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 43 0 0 51 4 7.27273 TGM2 0 genome.wustl.edu 37 20 36767984 36767984 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 36767984 36767984 G T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1172 p.P391H 0.950 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 84 0 0 73 17 18.8889 ACTR5 0 genome.wustl.edu 37 20 37378728 37378728 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 37378728 37378728 C T SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.451 p.L151F 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 68 0 0 89 8 8.24742 C20orf27 0 genome.wustl.edu 37 20 3739308 3739308 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 3739308 3739308 G A SNP C20orf27 ENST00000217195 human ensembl 74_37 -1 known missense c.112 p.R38W 1.000 NULL NULL - no_errors C20orf27 HGNC ENSG00000101220 31 0 0 33 41 55.4054 PANK2 0 genome.wustl.edu 37 20 3869793 3869793 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 3869793 3869793 C G SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.46 p.P16A 0.770 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 16 0 0 8 9 52.9412 PLCG1 0 genome.wustl.edu 37 20 39791294 39791294 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 39791294 39791294 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 34 0 0 47 17 26.5625 LPIN3 0 genome.wustl.edu 37 20 39987432 39987432 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 39987432 39987432 G A SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.2482 p.A828T 0.001 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 172 1 0.578035 110 97 46.8599 RBCK1 0 genome.wustl.edu 37 20 409696 409696 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 409696 409696 C A SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known silent c.1410 p.T470 0.003 pfam_Znf_C6HC pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 58 0 0 83 25 23.1481 SMOX 0 genome.wustl.edu 37 20 4158114 4158114 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 4158114 4158114 G A SNP SMOX ENST00000305958 human ensembl 74_37 +1 known missense c.325 p.V109M 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 12 0 0 18 6 25 L3MBTL1 0 genome.wustl.edu 37 20 42159475 42159475 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 42159475 42159475 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.1164 p.L388 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 54 0 0 40 35 46.6667 L3MBTL1 0 genome.wustl.edu 37 20 42159476 42159476 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 42159476 42159476 C A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.1165 p.R389S 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 54 0 0 40 35 46.6667 MYBL2 0 genome.wustl.edu 37 20 42311496 42311496 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 42311496 42311496 G T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.249 p.K83N 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 304 0 0 273 59 17.7711 MYBL2 0 genome.wustl.edu 37 20 42315578 42315578 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 42315578 42315578 T C SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.366 p.R122 0.157 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 54 0 0 71 18 20.2247 MYBL2 0 genome.wustl.edu 37 20 42320926 42320926 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 42320926 42320926 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.630 p.D210 0.014 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 108 0 0 63 39 38.2353 WFDC5 0 genome.wustl.edu 37 20 43739149 43739149 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 43739149 43739149 G A SNP WFDC5 ENST00000307971 human ensembl 74_37 -1 known missense c.259 p.R87C 0.020 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors WFDC5 HGNC ENSG00000175121 37 0 0 52 18 25.7143 PI3 0 genome.wustl.edu 37 20 43804672 43804672 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 43804672 43804672 G A SNP PI3 ENST00000243924 human ensembl 74_37 +1 known missense c.250 p.A84T 0.001 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_Trappin_transglut-bd_rpt,pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors PI3 HGNC ENSG00000124102 109 0 0 126 7 5.26316 WFDC10A 0 genome.wustl.edu 37 20 44258522 44258522 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 44258522 44258522 C T SNP WFDC10A ENST00000372643 human ensembl 74_37 +1 known missense c.70 p.R24C 0.002 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core - no_errors WFDC10A HGNC ENSG00000180305 41 0 0 34 12 26.087 ZSWIM1 0 genome.wustl.edu 37 20 44511611 44511611 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 44511611 44511611 A G SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known missense c.380 p.Q127R 1.000 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 83 0 0 106 9 7.82609 ZNF335 0 genome.wustl.edu 37 20 44596969 44596969 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 44596969 44596969 C A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.475 p.G159W 0.009 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 214 1 0.465116 236 20 7.8125 CDH22 0 genome.wustl.edu 37 20 44839080 44839080 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 44839080 44839080 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.1152 p.A384 0.301 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 22 0 0 20 14 41.1765 CDH22 0 genome.wustl.edu 37 20 44879758 44879758 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 44879758 44879758 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.176 p.R59H 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 38 0 0 75 6 7.40741 SLC13A3 0 genome.wustl.edu 37 20 45239100 45239100 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 45239100 45239100 T G SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.526 p.S176R 0.981 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 243 1 0.409836 135 119 46.8504 NCOA3 0 genome.wustl.edu 37 20 46265203 46265203 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 46265203 46265203 T C SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.2073 p.N691 0.998 pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 75 0 0 72 19 20.8791 NCOA3 0 genome.wustl.edu 37 20 46279845 46279845 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 46279845 46279845 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3771 p.Q1257 0.790 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 69 0 0 93 17 15.4545 PRND 0 genome.wustl.edu 37 20 4705598 4705598 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 4705598 4705598 G A SNP PRND ENST00000305817 human ensembl 74_37 +1 known missense c.401 p.R134Q 0.130 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 74 0 0 88 6 6.38298 FAM65C 0 genome.wustl.edu 37 20 49209604 49209604 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 49209604 49209604 A G SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known missense c.2342 p.L781P 1.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 146 0 0 99 72 42.1053 SALL4 0 genome.wustl.edu 37 20 50407921 50407921 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 50407921 50407921 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.1101 p.S367 0.042 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 76 0 0 87 19 17.9245 MC3R 0 genome.wustl.edu 37 20 54824308 54824308 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 54824308 54824308 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.409 p.A137T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 102 0 0 80 34 29.8246 MC3R 0 genome.wustl.edu 37 20 54824600 54824600 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 54824600 54824600 A G SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.701 p.Q234R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mcort_3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 81 0 0 64 18 21.9512 CSTF1 0 genome.wustl.edu 37 20 54978601 54978601 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 54978601 54978601 G A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.1114 p.D372N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 75 0 0 68 20 22.7273 APCDD1L 0 genome.wustl.edu 37 20 57042694 57042694 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 57042694 57042694 G T SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.242 p.P81Q 0.978 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 36 0 0 17 18 51.4286 MIR296 0 genome.wustl.edu 37 20 57392725 57392725 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 57392725 57392725 A G SNP MIR296 ENST00000385215 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors MIR296 HGNC ENSG00000268649 47 0 0 60 4 6.25 GNAS 0 genome.wustl.edu 37 20 57429596 57429596 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 57429596 57429596 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.1276 p.A426T 0.009 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 11 0 0 22 9 29.0323 ZNF831 0 genome.wustl.edu 37 20 57768027 57768027 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 57768027 57768027 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.1953 p.G651 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 147 0 0 122 40 24.6914 ZNF831 0 genome.wustl.edu 37 20 57829279 57829279 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 57829279 57829279 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.4515 p.A1505 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 52 0 0 40 35 46.6667 PPP1R3D 0 genome.wustl.edu 37 20 58514123 58514123 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 58514123 58514123 G A SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known silent c.864 p.R288 0.096 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 44 0 0 35 7 16.6667 CDH26 0 genome.wustl.edu 37 20 58564020 58564020 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 58564020 58564020 G T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1085 p.R362M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 102 0 0 111 39 26 MCM8 0 genome.wustl.edu 37 20 5966645 5966645 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 5966645 5966645 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known silent c.2151 p.V717 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 84 0 0 104 7 6.30631 CDH4 0 genome.wustl.edu 37 20 60499482 60499482 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 60499482 60499482 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1719 p.S573 0.070 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 75 0 0 85 16 15.8416 RBBP8NL 0 genome.wustl.edu 37 20 60988592 60988592 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 60988592 60988592 G A SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known missense c.1540 p.R514C 0.000 NULL pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 34 0 0 44 14 24.1379 SLCO4A1 0 genome.wustl.edu 37 20 61299422 61299422 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 61299422 61299422 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.1697 p.T566I 0.007 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 101 0 0 93 31 25 OGFR 0 genome.wustl.edu 37 20 61444531 61444531 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 61444531 61444531 C A SNP OGFR ENST00000290291 human ensembl 74_37 +1 known missense c.1564 p.P522T 0.001 pfam_OGF_rcpt_rpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 17 0 0 16 5 23.8095 DIDO1 0 genome.wustl.edu 37 20 61512878 61512878 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 61512878 61512878 T G SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4430 p.K1477T 0.725 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 134 0 0 116 47 28.8344 SLC17A9 0 genome.wustl.edu 37 20 61595602 61595602 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 61595602 61595602 C A SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known missense c.845 p.P282H 1.000 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 371 0 0 344 71 17.1084 COL20A1 0 genome.wustl.edu 37 20 61958164 61958164 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 61958164 61958164 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.3613 p.V1205M 0.984 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 14 0 0 12 9 42.8571 PPDPF 0 genome.wustl.edu 37 20 62153073 62153073 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62153073 62153073 G A SNP PPDPF ENST00000370177 human ensembl 74_37 +1 known silent c.264 p.K88 0.581 NULL NULL - no_errors PPDPF HGNC ENSG00000125534 84 0 0 74 8 9.7561 ZBTB46 0 genome.wustl.edu 37 20 62421703 62421703 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62421703 62421703 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.408 p.D136 0.980 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 53 0 0 56 4 6.66667 DNAJC5 0 genome.wustl.edu 37 20 62560749 62560749 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62560749 62560749 C T SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known silent c.192 p.H64 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 103 0 0 99 31 23.8462 PRPF6 0 genome.wustl.edu 37 20 62631096 62631096 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62631096 62631096 C T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.1007 p.T336M 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 46 0 0 45 10 18.1818 OPRL1 0 genome.wustl.edu 37 20 62729757 62729757 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62729757 62729757 C T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.718 p.R240W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 126 0 0 103 28 21.374 PCMTD2 0 genome.wustl.edu 37 20 62891437 62891437 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62891437 62891437 A G SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.119 p.D40G 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 87 0 0 98 9 8.41121 PLCB1 0 genome.wustl.edu 37 20 8609002 8609002 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 8609002 8609002 T A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.308 p.I103N 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 75 0 0 36 57 61.2903 BAGE2 0 genome.wustl.edu 37 21 11097627 11097627 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 11097627 11097627 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors BAGE2 HGNC ENSG00000187172 116 0 0 125 15 10.7143 TMPRSS15 0 genome.wustl.edu 37 21 19653414 19653414 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 19653414 19653414 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known nonsense c.2611 p.R871* 0.842 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 117 0 0 77 34 30.6306 GABPA 0 genome.wustl.edu 37 21 27141482 27141482 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 27141482 27141482 C T SNP GABPA ENST00000354828 human ensembl 74_37 +1 known missense c.1304 p.A435V 1.000 pirsf_TF_GA-bd_asu pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom - no_errors GABPA HGNC ENSG00000154727 78 0 0 61 4 6.15385 USP16 0 genome.wustl.edu 37 21 30419571 30419571 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 30419571 30419571 G A SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.1940 p.R647Q 0.007 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 86 0 0 58 23 28.3951 KRTAP22-1 0 genome.wustl.edu 37 21 31973469 31973469 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 31973469 31973469 C T SNP KRTAP22-1 ENST00000334680 human ensembl 74_37 +1 known silent c.30 p.G10 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP22-1 HGNC ENSG00000186924 144 0 0 132 17 11.4094 MORC3 0 genome.wustl.edu 37 21 37741774 37741774 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 37741774 37741774 T C SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.2108 p.L703P 0.324 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 61 0 0 56 22 28.2051 SIM2 0 genome.wustl.edu 37 21 38114120 38114120 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 38114120 38114120 G A SNP SIM2 ENST00000290399 human ensembl 74_37 +1 known missense c.953 p.R318H 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM2 HGNC ENSG00000159263 22 0 0 14 7 33.3333 BRWD1 0 genome.wustl.edu 37 21 40670383 40670383 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 40670383 40670383 C T SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known silent c.324 p.R108 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 146 0 0 71 41 36.6071 B3GALT5 0 genome.wustl.edu 37 21 41032852 41032852 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 41032852 41032852 G A SNP B3GALT5 ENST00000343118 human ensembl 74_37 +1 known silent c.366 p.K122 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 74 0 0 64 25 28.0899 IGSF5 0 genome.wustl.edu 37 21 41137483 41137483 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 41137483 41137483 T C SNP IGSF5 ENST00000380588 human ensembl 74_37 +1 novel missense c.122 p.V41A 0.337 pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF5 HGNC ENSG00000183067 80 0 0 42 7 14.2857 DSCAM 0 genome.wustl.edu 37 21 41516473 41516473 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 41516473 41516473 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.3204 p.N1068 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 115 0 0 82 28 25.4545 BACE2 0 genome.wustl.edu 37 21 42615331 42615331 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 42615331 42615331 A G SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known missense c.776 p.Y259C 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 47 0 0 29 16 35.5556 RIPK4 0 genome.wustl.edu 37 21 43162042 43162042 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 43162042 43162042 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known silent c.1455 p.S485 0.000 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 252 0 0 211 15 6.63717 PRDM15 0 genome.wustl.edu 37 21 43224817 43224817 + RNA SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 43224817 43224817 T G SNP PRDM15 ENST00000477633 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PRDM15 HGNC ENSG00000141956 11 0 0 7 5 41.6667 C2CD2 0 genome.wustl.edu 37 21 43325851 43325851 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 43325851 43325851 G T SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known missense c.1414 p.L472I 0.343 NULL pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 49 0 0 55 15 21.4286 TRAPPC10 0 genome.wustl.edu 37 21 45507599 45507599 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 45507599 45507599 G A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known silent c.2559 p.A853 0.001 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 86 0 0 63 20 24.0964 TRPM2 0 genome.wustl.edu 37 21 45821688 45821688 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 45821688 45821688 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.2446 p.V816M 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 324 0 0 210 100 32.2581 TRPM2 0 genome.wustl.edu 37 21 45826634 45826634 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 45826634 45826634 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.2948 p.P983L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 16 0 0 14 2 12.5 KRTAP10-4 0 genome.wustl.edu 37 21 45994758 45994758 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 45994758 45994758 G A SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.1123 p.V375M 0.002 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 223 1 0.446429 156 12 7.14286 ADARB1 0 genome.wustl.edu 37 21 46640907 46640907 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 46640907 46640907 G A SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.2024 p.R675H 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 50 0 0 27 15 35.7143 COL6A2 0 genome.wustl.edu 37 21 47533969 47533969 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 47533969 47533969 G T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.783 p.K261N 1.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 91 0 0 50 26 34.2105 LSS 0 genome.wustl.edu 37 21 47647501 47647501 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 47647501 47647501 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.284 p.T95M 0.994 tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 90 0 0 47 26 35.6164 PCNT 0 genome.wustl.edu 37 21 47808673 47808673 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 47808673 47808673 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.3481 p.A1161T 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 93 0 0 69 13 15.8537 PCNT 0 genome.wustl.edu 37 21 47863742 47863742 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 47863742 47863742 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.9720 p.P3240 0.003 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 102 1 0.970874 92 18 16.3636 PRMT2 0 genome.wustl.edu 37 21 48081770 48081770 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 48081770 48081770 C T SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known missense c.1019 p.T340M 0.993 pfam_Arg_MeTrfase pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 20 0 0 23 6 20.6897 CECR6 0 genome.wustl.edu 37 22 17600853 17600853 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 17600853 17600853 G A SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known missense c.1165 p.R389W 1.000 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 15 0 0 20 5 20 MICAL3 0 genome.wustl.edu 37 22 18363980 18363980 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 18363980 18363980 G A SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known silent c.2331 p.G777 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 66 0 0 87 10 10.3093 PEX26 0 genome.wustl.edu 37 22 18604278 18604278 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 18604278 18604278 G A SNP PEX26 ENST00000474897 human ensembl 74_37 +1 known missense c.404 p.R135Q 0.032 NULL pfam_Pex26 - no_errors PEX26 HGNC ENSG00000215193 87 0 0 64 23 26.4368 CLTCL1 0 genome.wustl.edu 37 22 19211489 19211489 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 19211489 19211489 C T SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known silent c.2217 p.G739 0.995 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 46 0 0 27 7 20.5882 DGCR8 0 genome.wustl.edu 37 22 20096520 20096520 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 20096520 20096520 G T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.2232 p.E744D 0.641 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 106 0 0 58 24 29.2683 RTN4R 0 genome.wustl.edu 37 22 20230157 20230157 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 20230157 20230157 G A SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known nonsense c.499 p.Q167* 0.751 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 94 0 0 98 6 5.76923 KLHL22 0 genome.wustl.edu 37 22 20838150 20838150 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 20838150 20838150 C A SNP KLHL22 ENST00000470335 human ensembl 74_37 -1 putative rna NULL NULL 0.999 - - - no_errors KLHL22 HGNC ENSG00000099910 46 0 0 30 7 18.9189 PI4KA 0 genome.wustl.edu 37 22 21065003 21065003 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 21065003 21065003 C A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.6067 p.G2023C 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 156 0 0 112 6 5.08475 PI4KA 0 genome.wustl.edu 37 22 21101908 21101908 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 21101908 21101908 T C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3326 p.H1109R 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 70 0 0 48 13 21.3115 CRKL 0 genome.wustl.edu 37 22 21272475 21272475 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 21272475 21272475 C T SNP CRKL ENST00000354336 human ensembl 74_37 +1 known silent c.253 p.L85 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRKL HGNC ENSG00000099942 81 0 0 56 13 18.8406 P2RX6 0 genome.wustl.edu 37 22 21377608 21377608 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 21377608 21377608 G A SNP P2RX6 ENST00000413302 human ensembl 74_37 +1 known missense c.683 p.C228Y 0.998 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 181 0 0 132 43 24.5714 HIC2 0 genome.wustl.edu 37 22 21800745 21800745 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 21800745 21800745 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1561 p.R521W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 95 0 0 94 6 6 CCDC116 0 genome.wustl.edu 37 22 21989564 21989564 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 21989564 21989564 C A SNP CCDC116 ENST00000607942 human ensembl 74_37 +1 putative silent c.1212 p.P404 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 40 0 0 21 4 16 BMS1P20 0 genome.wustl.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 22664141 22664141 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 100 0 0 93 5 5.10204 BMS1P20 0 genome.wustl.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 22664186 22664186 A G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 109 1 0.909091 86 5 5.49451 CABIN1 0 genome.wustl.edu 37 22 24480975 24480975 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 24480975 24480975 A G SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.3134 p.E1045G 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 116 0 0 104 6 5.45455 POM121L9P 0 genome.wustl.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 24659809 24659809 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC ENSG00000128262 13 0 0 11 3 21.4286 SGSM1 0 genome.wustl.edu 37 22 25270530 25270530 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 25270530 25270530 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.1440 p.P480 0.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 19 0 0 12 7 36.8421 MN1 0 genome.wustl.edu 37 22 28193903 28193903 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 28193903 28193903 C G SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.2629 p.D877H 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 52 0 0 51 26 33.7662 MN1 0 genome.wustl.edu 37 22 28194198 28194198 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 28194198 28194198 G A SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.2334 p.G778 0.207 NULL NULL - no_errors MN1 HGNC ENSG00000169184 18 0 0 6 5 45.4545 KREMEN1 0 genome.wustl.edu 37 22 29533335 29533335 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 29533335 29533335 G A SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.637 p.V213M 0.211 pirsf_Kremen pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 144 0 0 107 6 5.30973 ZMAT5 0 genome.wustl.edu 37 22 30134378 30134378 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 30134378 30134378 G A SNP ZMAT5 ENST00000344318 human ensembl 74_37 -1 known silent c.324 p.G108 0.006 NULL pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH - no_errors ZMAT5 HGNC ENSG00000100319 76 0 0 49 19 27.9412 CCDC157 0 genome.wustl.edu 37 22 30769736 30769736 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 30769736 30769736 C A SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known missense c.1486 p.Q496K 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 9 0 0 3 4 57.1429 GAL3ST1 0 genome.wustl.edu 37 22 30951876 30951876 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 30951876 30951876 G A SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known silent c.336 p.R112 0.992 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 144 0 0 137 47 25.5435 DEPDC5 0 genome.wustl.edu 37 22 32269303 32269303 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 32269303 32269303 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.3482 p.A1161V 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 115 1 0.862069 62 22 26.1905 SLC5A1 0 genome.wustl.edu 37 22 32495184 32495184 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 32495184 32495184 T C SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.1295 p.V432A 0.985 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 104 0 0 95 24 20.1681 C22orf42 0 genome.wustl.edu 37 22 32548060 32548060 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 32548060 32548060 C T SNP C22orf42 ENST00000382097 human ensembl 74_37 -1 known missense c.394 p.D132N 0.000 NULL NULL - no_errors C22orf42 HGNC ENSG00000205856 73 0 0 34 9 20.9302 MCM5 0 genome.wustl.edu 37 22 35804466 35804466 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 35804466 35804466 G A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.662 p.C221Y 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 85 0 0 72 5 6.49351 MYH9 0 genome.wustl.edu 37 22 36681702 36681702 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 36681702 36681702 A G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known splice_site c.5274+2 e36+2 0.999 - - - no_errors MYH9 HGNC ENSG00000100345 35 0 0 29 4 12.1212 MYH9 0 genome.wustl.edu 37 22 36708245 36708245 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 36708245 36708245 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.1577 p.A526V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC ENSG00000100345 84 0 0 66 7 9.58904 MYH9 0 genome.wustl.edu 37 22 36714268 36714268 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 36714268 36714268 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.1211 p.A404V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC ENSG00000100345 174 0 0 184 11 5.64103 CARD10 0 genome.wustl.edu 37 22 37904622 37904622 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 37904622 37904622 C T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.977 p.R326Q 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 22 0 0 10 2 16.6667 C22orf23 0 genome.wustl.edu 37 22 38341135 38341135 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 38341135 38341135 G A SNP C22orf23 ENST00000249079 human ensembl 74_37 -1 known missense c.395 p.T132I 0.369 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 119 0 0 90 31 25.6198 PLA2G6 0 genome.wustl.edu 37 22 38512189 38512189 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 38512189 38512189 C T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.1772 p.R591Q 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 59 0 0 43 15 25.8621 KCNJ4 0 genome.wustl.edu 37 22 38823565 38823565 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 38823565 38823565 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.573 p.A191 0.955 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 58 0 0 48 18 27.2727 CBX6 0 genome.wustl.edu 37 22 39263009 39263009 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 39263009 39263009 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known silent c.444 p.P148 0.021 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 38 0 0 31 5 13.8889 MGAT3 0 genome.wustl.edu 37 22 39883971 39883971 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 39883971 39883971 C A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.619 p.R207S 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 29 0 0 24 9 27.2727 TNRC6B 0 genome.wustl.edu 37 22 40660971 40660971 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 40660971 40660971 A G SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.737 p.Q246R 0.988 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 146 0 0 125 10 7.40741 ST13 0 genome.wustl.edu 37 22 41222549 41222549 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41222549 41222549 T C SNP ST13 ENST00000216218 human ensembl 74_37 -1 known missense c.1103 p.Q368R 1.000 NULL pfam_TPR_1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ST13 HGNC ENSG00000100380 150 0 0 143 10 6.53595 L3MBTL2 0 genome.wustl.edu 37 22 41601335 41601335 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41601335 41601335 C T SNP L3MBTL2 ENST00000489136 human ensembl 74_37 +1 known rna NULL NULL 0.759 - - - no_errors L3MBTL2 HGNC ENSG00000100395 86 0 0 62 26 29.5455 RANGAP1 0 genome.wustl.edu 37 22 41650405 41650405 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41650405 41650405 T C SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1167 p.E389 0.983 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 67 0 0 47 19 28.7879 ACO2 0 genome.wustl.edu 37 22 41920923 41920923 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41920923 41920923 G A SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known missense c.1556 p.G519D 1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 159 0 0 83 39 31.9672 ACO2 0 genome.wustl.edu 37 22 41923953 41923953 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41923953 41923953 C T SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known missense c.2135 p.P712L 0.998 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 237 0 0 206 11 5.06912 SERHL 0 genome.wustl.edu 37 22 42908268 42908268 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 42908268 42908268 C A SNP SERHL ENST00000359906 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SERHL HGNC ENSG00000172250 76 0 0 40 17 29.8246 PACSIN2 0 genome.wustl.edu 37 22 43287156 43287156 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 43287156 43287156 T C SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.250 p.M84V 0.000 pfam_FCH_dom,smart_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 59 0 0 49 17 25.7576 SCUBE1 0 genome.wustl.edu 37 22 43715966 43715966 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 43715966 43715966 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.326 p.A109V 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 76 0 0 61 4 6.15385 CELSR1 0 genome.wustl.edu 37 22 46786291 46786291 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 46786291 46786291 T C SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.6343 p.M2115V 0.239 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 31 0 0 15 11 42.3077 CELSR1 0 genome.wustl.edu 37 22 46859850 46859850 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 46859850 46859850 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3937 p.E1313K 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 56 0 0 55 5 8.33333 MLC1 0 genome.wustl.edu 37 22 50515292 50515292 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 50515292 50515292 G A SNP MLC1 ENST00000311597 human ensembl 74_37 -1 known missense c.575 p.A192V 1.000 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 98 0 0 64 28 30.4348 MOV10L1 0 genome.wustl.edu 37 22 50528909 50528909 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 50528909 50528909 C T SNP MOV10L1 ENST00000540615 human ensembl 74_37 +1 known missense c.5 p.S2L 0.001 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 28 0 0 20 4 16.6667 TUBGCP6 0 genome.wustl.edu 37 22 50657858 50657858 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 50657858 50657858 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.4343 p.R1448H 0.027 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 14 0 0 11 3 21.4286 HDAC10 0 genome.wustl.edu 37 22 50686696 50686696 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 50686696 50686696 G A SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1039 p.R347C 0.092 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 73 0 0 72 6 7.69231 PLXNB2 0 genome.wustl.edu 37 22 50728801 50728801 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 50728801 50728801 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.213 p.P71 0.002 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 49 0 0 54 15 21.7391 KLHDC7B 0 genome.wustl.edu 37 22 50987889 50987889 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 50987889 50987889 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1294 p.A432T 0.984 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 157 0 0 108 50 31.6456 EMC3 0 genome.wustl.edu 37 3 10018666 10018666 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 10018666 10018666 C T SNP EMC3 ENST00000245046 human ensembl 74_37 -1 known silent c.282 p.K94 1.000 pfam_DUF106_TM,pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC ENSG00000125037 165 0 0 109 51 31.875 ABI3BP 0 genome.wustl.edu 37 3 100489671 100489671 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 100489671 100489671 T C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.2524 p.T842A 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 151 0 0 135 8 5.59441 FANCD2 0 genome.wustl.edu 37 3 10119868 10119868 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 10119868 10119868 T A SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.2963 p.V988D 0.002 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 87 0 0 87 5 5.43478 TATDN2 0 genome.wustl.edu 37 3 10311865 10311865 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 10311865 10311865 G A SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known nonsense c.999 p.W333* 1.000 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 110 0 0 127 10 7.29927 ATP2B2 0 genome.wustl.edu 37 3 10370568 10370568 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 10370568 10370568 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.3662 p.T1221I 0.991 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 102 0 0 73 20 21.5054 HHLA2 0 genome.wustl.edu 37 3 108074114 108074114 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 108074114 108074114 G A SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known missense c.571 p.D191N 0.000 pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 53 0 0 40 11 21.5686 CD96 0 genome.wustl.edu 37 3 111297890 111297890 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 111297890 111297890 A G SNP CD96 ENST00000283285 human ensembl 74_37 +1 known missense c.608 p.Q203R 0.008 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 70 0 0 32 9 21.9512 CCDC80 0 genome.wustl.edu 37 3 112358121 112358121 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 112358121 112358121 T C SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.632 p.E211G 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 142 0 0 83 29 25.8929 HRH1 0 genome.wustl.edu 37 3 11301949 11301949 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 11301949 11301949 G A SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known missense c.1226 p.R409H 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 137 0 0 91 36 28.3465 WDR52 0 genome.wustl.edu 37 3 113115474 113115474 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 113115474 113115474 C T SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.1670 p.R557Q 0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 42 0 0 25 7 21.875 ZDHHC23 0 genome.wustl.edu 37 3 113675184 113675184 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 113675184 113675184 A G SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known splice_site c.873-2 e3-2 1.000 - - - no_errors ZDHHC23 HGNC ENSG00000184307 93 0 0 59 28 32.1839 KIAA1407 0 genome.wustl.edu 37 3 113737606 113737606 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 113737606 113737606 C A SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.1082 p.R361L 0.988 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 304 0 0 270 21 7.21649 ZBTB20 0 genome.wustl.edu 37 3 114070045 114070045 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 114070045 114070045 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.880 p.R294C 1.000 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 ZBTB20 HGNC ENSG00000181722 84 0 0 71 29 29 ADPRH 0 genome.wustl.edu 37 3 119306493 119306493 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 119306493 119306493 C A SNP ADPRH ENST00000357003 human ensembl 74_37 +1 known missense c.842 p.A281D 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 57 0 0 48 22 31.4286 MAATS1 0 genome.wustl.edu 37 3 119445159 119445159 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 119445159 119445159 G T SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.824 p.R275M 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 55 0 0 55 4 6.77966 HCLS1 0 genome.wustl.edu 37 3 121363692 121363692 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 121363692 121363692 G A SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known silent c.372 p.Y124 0.855 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 136 0 0 103 8 7.20721 TIMP4 0 genome.wustl.edu 37 3 12200336 12200336 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 12200336 12200336 G A SNP TIMP4 ENST00000287814 human ensembl 74_37 -1 known missense c.5 p.P2L 0.845 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP4 HGNC ENSG00000157150 15 0 0 17 11 39.2857 PDIA5 0 genome.wustl.edu 37 3 122807972 122807972 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 122807972 122807972 G A SNP PDIA5 ENST00000495004 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDIA5 HGNC ENSG00000065485 45 0 0 25 11 30.5556 ADCY5 0 genome.wustl.edu 37 3 123049782 123049782 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 123049782 123049782 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.1600 p.A534T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 50 0 0 46 4 8 MYLK 0 genome.wustl.edu 37 3 123359180 123359180 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 123359180 123359180 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.4791 p.T1597 0.003 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 139 0 0 77 26 25.2427 KALRN 0 genome.wustl.edu 37 3 124017664 124017664 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 124017664 124017664 G T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.990 p.K330N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 195 0 0 119 40 25.1572 KALRN 0 genome.wustl.edu 37 3 124438037 124438037 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 124438037 124438037 G T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8681 p.R2894M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 48 0 0 40 11 21.5686 MUC13 0 genome.wustl.edu 37 3 124632523 124632523 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 124632523 124632523 G T SNP MUC13 ENST00000311075 human ensembl 74_37 -1 known missense c.967 p.L323I 0.000 superfamily_Growth_fac_rcpt_N_dom pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 74 0 0 70 5 6.66667 KLF15 0 genome.wustl.edu 37 3 126070712 126070712 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 126070712 126070712 C T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.1054 p.A352T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 35 0 0 28 4 12.5 PLXNA1 0 genome.wustl.edu 37 3 126736666 126736666 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 126736666 126736666 T C SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.3591 p.C1197 0.001 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 110 0 0 60 22 26.8293 CAND2 0 genome.wustl.edu 37 3 12858739 12858739 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 12858739 12858739 C A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.2308 p.P770T 0.021 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 86 0 0 67 18 21.1765 RAB43 0 genome.wustl.edu 37 3 128840142 128840142 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 128840142 128840142 C T SNP RAB43 ENST00000315150 human ensembl 74_37 -1 known missense c.191 p.G64D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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_EF_GTP-bd_dom,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 RAB43 HGNC ENSG00000172780 23 0 0 8 7 46.6667 IFT122 0 genome.wustl.edu 37 3 129214425 129214425 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 129214425 129214425 A G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.2336 p.D779G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 95 0 0 87 9 9.375 IFT122 0 genome.wustl.edu 37 3 129221567 129221567 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 129221567 129221567 G A SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.2542 p.A848T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 203 0 0 170 11 6.07735 FAM86HP 0 genome.wustl.edu 37 3 129823065 129823065 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 129823065 129823065 G A SNP FAM86HP ENST00000500074 human ensembl 74_37 -1 putative rna NULL NULL 0.969 - - - no_errors FAM86HP HGNC ENSG00000253540 45 0 0 44 12 21.4286 COL6A6 0 genome.wustl.edu 37 3 130282310 130282310 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 130282310 130282310 C T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.463 p.R155W 0.460 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 60 0 0 41 7 14.5833 RAB6B 0 genome.wustl.edu 37 3 133553465 133553465 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 133553465 133553465 C T SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known silent c.516 p.S172 0.001 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,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 RAB6B HGNC ENSG00000154917 90 0 0 77 6 7.22892 NUP210 0 genome.wustl.edu 37 3 13368884 13368884 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 13368884 13368884 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4340 p.R1447H 0.987 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 42 0 0 25 8 24.2424 SLCO2A1 0 genome.wustl.edu 37 3 133692546 133692546 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 133692546 133692546 A G SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known missense c.358 p.F120L 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 38 0 0 27 11 28.9474 RYK 0 genome.wustl.edu 37 3 133878181 133878181 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 133878181 133878181 G T SNP RYK ENST00000427044 human ensembl 74_37 -1 known missense c.1045 p.L349M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RYK HGNC ENSG00000163785 38 0 0 23 14 37.8378 AMOTL2 0 genome.wustl.edu 37 3 134085137 134085137 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 134085137 134085137 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.1174 p.R392W 1.000 prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 453 1 0.220264 302 29 8.76133 NUP210 0 genome.wustl.edu 37 3 13417008 13417008 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 13417008 13417008 A G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.1427 p.I476T 1.000 superfamily_Invasin/intimin_cell_adhesion pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 129 0 0 80 35 30.4348 EPHB1 0 genome.wustl.edu 37 3 134670334 134670334 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 134670334 134670334 C G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.245 p.A82G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 35 0 0 15 8 34.7826 MSL2 0 genome.wustl.edu 37 3 135870112 135870112 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 135870112 135870112 A G SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.1611 p.R537 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 75 0 0 64 16 20 PRR23B 0 genome.wustl.edu 37 3 138739078 138739078 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 138739078 138739078 G A SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.426 p.C142 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 82 0 0 65 33 33.6735 WNT7A 0 genome.wustl.edu 37 3 13896246 13896246 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 13896246 13896246 G A SNP WNT7A ENST00000285018 human ensembl 74_37 -1 known missense c.353 p.A118V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 138 0 0 108 31 22.3022 COPB2 0 genome.wustl.edu 37 3 139081286 139081286 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 139081286 139081286 T C SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.1958 p.E653G 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 29 0 0 29 11 27.5 CLSTN2 0 genome.wustl.edu 37 3 140281016 140281016 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 140281016 140281016 A G SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2078 p.N693S 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 69 0 0 46 20 30.303 CLSTN2 0 genome.wustl.edu 37 3 140281769 140281769 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 140281769 140281769 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2329 p.R777C 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 60 0 0 39 15 27.7778 TRIM42 0 genome.wustl.edu 37 3 140401956 140401956 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 140401956 140401956 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.994 p.E332K 0.973 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 116 0 0 71 14 16.4706 PCOLCE2 0 genome.wustl.edu 37 3 142561847 142561847 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 142561847 142561847 A G SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known silent c.492 p.S164 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 88 0 0 67 26 27.957 CHST2 0 genome.wustl.edu 37 3 142840157 142840157 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 142840157 142840157 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.499 p.V167M 1.000 superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 43 0 0 35 17 32.6923 PBX2P1 0 genome.wustl.edu 37 3 142895923 142895923 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 142895923 142895923 G A SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX2P1 HGNC ENSG00000244171 22 0 0 11 4 26.6667 PLOD2 0 genome.wustl.edu 37 3 145794671 145794671 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 145794671 145794671 C T SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.1575 p.M525I 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 58 0 0 61 5 7.57576 C3orf20 0 genome.wustl.edu 37 3 14724603 14724603 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 14724603 14724603 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.383 p.R128H 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 41 0 0 39 8 17.0213 GYG1 0 genome.wustl.edu 37 3 148744276 148744276 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 148744276 148744276 G A SNP GYG1 ENST00000345003 human ensembl 74_37 +1 known missense c.866 p.G289D 1.000 NULL pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 76 0 0 71 7 8.97436 RNF13 0 genome.wustl.edu 37 3 149613269 149613269 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 149613269 149613269 G A SNP RNF13 ENST00000344229 human ensembl 74_37 +1 known missense c.331 p.A111T 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 59 0 0 43 21 32.8125 RNF13 0 genome.wustl.edu 37 3 149638970 149638970 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 149638970 149638970 G A SNP RNF13 ENST00000344229 human ensembl 74_37 +1 known missense c.656 p.R219H 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 45 0 0 18 10 35.7143 MED12L 0 genome.wustl.edu 37 3 151112591 151112591 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 151112591 151112591 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5651 p.K1884R 1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 119 0 0 120 11 8.39695 IGSF10 0 genome.wustl.edu 37 3 151163551 151163551 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 151163551 151163551 G T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.4218 p.S1406R 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 124 0 0 109 8 6.83761 MBNL1 0 genome.wustl.edu 37 3 152150657 152150657 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 152150657 152150657 C A SNP MBNL1 ENST00000282486 human ensembl 74_37 +1 known missense c.497 p.P166H 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 161 0 0 108 15 12.1951 MBNL1 0 genome.wustl.edu 37 3 152163159 152163159 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 152163159 152163159 C T SNP MBNL1 ENST00000282486 human ensembl 74_37 +1 known missense c.638 p.T213I 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 78 0 0 71 13 15.4762 EAF1 0 genome.wustl.edu 37 3 15473709 15473709 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 15473709 15473709 G A SNP EAF1 ENST00000396842 human ensembl 74_37 +1 known missense c.314 p.S105N 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF1 HGNC ENSG00000144597 92 0 0 63 18 22.2222 GMPS 0 genome.wustl.edu 37 3 155628964 155628964 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 155628964 155628964 A G SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.782 p.N261S 1.000 pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 39 0 0 33 6 15.3846 TIPARP 0 genome.wustl.edu 37 3 156422795 156422795 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 156422795 156422795 G A SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known missense c.1849 p.D617N 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 54 0 0 40 15 27.2727 LEKR1 0 genome.wustl.edu 37 3 156763369 156763369 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 156763369 156763369 C T SNP LEKR1 ENST00000356539 human ensembl 74_37 +1 known missense c.1909 p.R637C 0.017 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 159 0 0 103 35 25.3623 BTD 0 genome.wustl.edu 37 3 15686427 15686427 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 15686427 15686427 A C SNP BTD ENST00000303498 human ensembl 74_37 +1 known missense c.1064 p.D355A 0.003 pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 115 0 0 86 26 23.2143 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159604040 159604040 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 159604040 159604040 G T SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known missense c.1151 p.S384I 1.000 pfam_SCHIP_1 pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 62 0 0 48 23 32.3944 IFT80 0 genome.wustl.edu 37 3 160156198 160156198 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 160156198 160156198 G A SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known silent c.774 p.R258 0.916 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 80 0 0 77 8 9.41176 GALNT15 0 genome.wustl.edu 37 3 16217011 16217011 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 16217011 16217011 G A SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.353 p.R118H 0.848 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 39 0 0 41 7 14.5833 MECOM 0 genome.wustl.edu 37 3 168838978 168838978 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 168838978 168838978 T C SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.998 p.N333S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 43 0 0 28 9 24.3243 TNIK 0 genome.wustl.edu 37 3 170819309 170819309 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 170819309 170819309 C A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.2520 p.E840D 0.465 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 221 0 0 145 58 28.5714 KLHL24 0 genome.wustl.edu 37 3 183368716 183368716 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 183368716 183368716 C T SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.572 p.A191V 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 61 0 0 71 5 6.57895 EIF2B5 0 genome.wustl.edu 37 3 183861930 183861930 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 183861930 183861930 G A SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.1913 p.R638H 1.000 superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 194 0 0 132 39 22.807 FAM131A 0 genome.wustl.edu 37 3 184062581 184062581 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 184062581 184062581 G A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known silent c.924 p.S308 0.992 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 118 0 0 85 42 33.0709 CLCN2 0 genome.wustl.edu 37 3 184076787 184076787 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 184076787 184076787 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.196 p.R66W 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 100 0 0 95 6 5.94059 EHHADH 0 genome.wustl.edu 37 3 184935990 184935990 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 184935990 184935990 T C SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known missense c.502 p.I168V 0.116 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 94 0 0 91 27 22.8814 MAP3K13 0 genome.wustl.edu 37 3 185191365 185191365 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 185191365 185191365 A G SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.2246 p.E749G 0.508 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 156 0 0 123 33 21.1538 TP63 0 genome.wustl.edu 37 3 189584501 189584501 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 189584501 189584501 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.797 p.R266Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 70 0 0 52 22 29.7297 PYDC2 0 genome.wustl.edu 37 3 191179227 191179227 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 191179227 191179227 T C SNP PYDC2 ENST00000518817 human ensembl 74_37 +1 known silent c.276 p.C92 0.004 superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN - no_errors PYDC2 HGNC ENSG00000253548 128 1 0.775194 91 26 22.2222 ATP13A5 0 genome.wustl.edu 37 3 192997203 192997203 + Silent SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 192997203 192997203 T A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.3267 p.T1089 0.912 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 58 0 0 47 17 26.5625 LSG1 0 genome.wustl.edu 37 3 194379824 194379824 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 194379824 194379824 G A SNP LSG1 ENST00000265245 human ensembl 74_37 -1 known silent c.621 p.N207 0.577 superfamily_P-loop_NTPase pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 152 1 0.653595 126 8 5.97015 APOD 0 genome.wustl.edu 37 3 195306281 195306281 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 195306281 195306281 C T SNP APOD ENST00000343267 human ensembl 74_37 -1 known missense c.52 p.A18T 0.064 pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC ENSG00000189058 104 0 0 87 9 9.375 MUC4 0 genome.wustl.edu 37 3 195484161 195484161 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 195484161 195484161 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15025 p.P5009S 0.305 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 76 0 0 60 5 7.69231 MUC4 0 genome.wustl.edu 37 3 195516927 195516927 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 195516927 195516927 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.1524 p.T508 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 64 0 0 56 10 15.1515 TFRC 0 genome.wustl.edu 37 3 195792355 195792355 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 195792355 195792355 A T SNP TFRC ENST00000360110 human ensembl 74_37 -1 known missense c.1157 p.I386N 0.999 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 43 0 0 42 5 10.6383 NRROS 0 genome.wustl.edu 37 3 196386689 196386689 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 196386689 196386689 G A SNP NRROS ENST00000328557 human ensembl 74_37 +1 known missense c.175 p.A59T 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 59 0 0 34 15 30.6122 NRROS 0 genome.wustl.edu 37 3 196387398 196387398 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 196387398 196387398 C A SNP NRROS ENST00000328557 human ensembl 74_37 +1 known nonsense c.884 p.S295* 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 161 0 0 133 41 23.5632 DLG1 0 genome.wustl.edu 37 3 196786868 196786868 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 196786868 196786868 C T SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.2474 p.G825D 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 44 0 0 29 5 14.7059 BDH1 0 genome.wustl.edu 37 3 197260430 197260430 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 197260430 197260430 C T SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known missense c.86 p.R29H 0.003 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 84 0 0 70 6 7.89474 SGOL1 0 genome.wustl.edu 37 3 20219765 20219765 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 20219765 20219765 T C SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known silent c.414 p.L138 1.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 48 0 0 56 4 6.66667 TOP2B 0 genome.wustl.edu 37 3 25677550 25677550 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 25677550 25677550 A T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.729 p.D243E 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 30 0 0 19 3 13.6364 OSBPL10 0 genome.wustl.edu 37 3 31705672 31705672 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 31705672 31705672 C A SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.2149 p.A717S 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 103 0 0 87 6 6.45161 TRIM71 0 genome.wustl.edu 37 3 32859644 32859644 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 32859644 32859644 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.72 p.P24 0.999 smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 82 0 0 51 19 27.1429 CCR4 0 genome.wustl.edu 37 3 32995361 32995361 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 32995361 32995361 G A SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known silent c.447 p.R149 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 126 0 0 101 8 7.33945 TMPPE 0 genome.wustl.edu 37 3 33135323 33135323 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 33135323 33135323 A G SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known missense c.365 p.L122P 0.999 NULL pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 27 0 0 22 11 33.3333 CRTAP 0 genome.wustl.edu 37 3 33174141 33174141 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 33174141 33174141 G A SNP CRTAP ENST00000320954 human ensembl 74_37 +1 known silent c.1017 p.Q339 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 135 0 0 102 34 25 ARPP21 0 genome.wustl.edu 37 3 35833988 35833988 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 35833988 35833988 T C SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.2150 p.V717A 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 102 0 0 76 20 20.8333 DLEC1 0 genome.wustl.edu 37 3 38155899 38155899 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 38155899 38155899 C A SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.3733 p.L1245M 0.825 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 82 0 0 47 27 36.4865 SCN5A 0 genome.wustl.edu 37 3 38601889 38601889 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 38601889 38601889 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3994 p.P1332S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 90 0 0 45 16 26.2295 SCN11A 0 genome.wustl.edu 37 3 38938349 38938349 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 38938349 38938349 A G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2390 p.I797T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 31 0 0 37 5 11.9048 WDR48 0 genome.wustl.edu 37 3 39107349 39107349 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 39107349 39107349 C T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known silent c.237 p.N79 0.718 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 52 0 0 37 6 13.9535 ZNF620 0 genome.wustl.edu 37 3 40557460 40557460 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 40557460 40557460 G T SNP ZNF620 ENST00000314529 human ensembl 74_37 +1 known missense c.375 p.Q125H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF620 HGNC ENSG00000177842 42 0 0 29 18 38.2979 HHATL 0 genome.wustl.edu 37 3 42739654 42739654 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 42739654 42739654 A C SNP HHATL ENST00000310417 human ensembl 74_37 -1 known missense c.673 p.F225V 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 111 0 0 63 34 35.0515 ACKR2 0 genome.wustl.edu 37 3 42906981 42906981 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 42906981 42906981 C T SNP ACKR2 ENST00000273145 human ensembl 74_37 +1 known silent c.987 p.A329 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR2 HGNC ENSG00000144648 127 0 0 80 26 24.5283 ZNF197 0 genome.wustl.edu 37 3 44685182 44685182 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 44685182 44685182 G T SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.2560 p.G854C 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 83 0 0 54 14 20.5882 SLC6A20 0 genome.wustl.edu 37 3 45812748 45812748 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 45812748 45812748 C T SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.896 p.G299D 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 84 0 0 53 13 19.697 LTF 0 genome.wustl.edu 37 3 46490409 46490409 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 46490409 46490409 C T SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.1157 p.G386D 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 54 0 0 34 5 12.8205 RTP3 0 genome.wustl.edu 37 3 46539591 46539591 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 46539591 46539591 G T SNP RTP3 ENST00000296142 human ensembl 74_37 +1 known missense c.39 p.Q13H 0.920 NULL NULL - no_errors RTP3 HGNC ENSG00000163825 52 0 0 55 9 14.0625 ALS2CL 0 genome.wustl.edu 37 3 46727050 46727050 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 46727050 46727050 C T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.751 p.V251M 0.973 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 51 0 0 39 5 11.3636 NBEAL2 0 genome.wustl.edu 37 3 47041836 47041836 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 47041836 47041836 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.4247 p.G1416D 0.746 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 63 0 0 49 23 31.9444 NBEAL2 0 genome.wustl.edu 37 3 47045639 47045639 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 47045639 47045639 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5954 p.R1985H 0.999 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 326 1 0.30581 209 110 34.4828 KIF9 0 genome.wustl.edu 37 3 47286326 47286326 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 47286326 47286326 G T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1469 p.P490H 0.256 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 114 0 0 104 8 7.14286 DHX30 0 genome.wustl.edu 37 3 47889027 47889027 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 47889027 47889027 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known splice_site c.2110+1 e11+1 1.000 - - - no_errors DHX30 HGNC ENSG00000132153 21 0 0 13 3 18.75 PLXNB1 0 genome.wustl.edu 37 3 48453996 48453996 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48453996 48453996 A G SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4888 p.S1630P 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 73 0 0 48 23 32.3944 PLXNB1 0 genome.wustl.edu 37 3 48462706 48462706 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48462706 48462706 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.1741 p.L581 0.999 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 145 0 0 120 7 5.51181 PLXNB1 0 genome.wustl.edu 37 3 48464927 48464927 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48464927 48464927 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.1094 p.A365V 0.981 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 81 0 0 70 23 24.7312 TREX1 0 genome.wustl.edu 37 3 48508725 48508725 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48508725 48508725 G T SNP TREX1 ENST00000422277 human ensembl 74_37 +1 known missense c.836 p.R279M 0.198 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX1 HGNC ENSG00000213689 86 0 0 95 6 5.94059 CELSR3 0 genome.wustl.edu 37 3 48681695 48681695 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48681695 48681695 T C SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.8134 p.T2712A 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 58 0 0 57 7 10.9375 CELSR3 0 genome.wustl.edu 37 3 48699591 48699591 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48699591 48699591 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.477 p.S159 0.086 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 180 0 0 113 64 36.1582 ARIH2 0 genome.wustl.edu 37 3 49017843 49017843 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49017843 49017843 G A SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.1171 p.E391K 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 89 0 0 51 16 23.8806 USP19 0 genome.wustl.edu 37 3 49148785 49148785 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49148785 49148785 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known silent c.2922 p.G974 0.275 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 84 0 0 40 18 31.0345 LAMB2 0 genome.wustl.edu 37 3 49160234 49160234 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49160234 49160234 C A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4476 p.Q1492H 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 133 0 0 87 38 30.4 LAMB2 0 genome.wustl.edu 37 3 49168433 49168433 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49168433 49168433 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.865 p.A289T 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 118 0 0 102 12 10.5263 DAG1 0 genome.wustl.edu 37 3 49568912 49568912 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49568912 49568912 C T SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.968 p.A323V 1.000 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 175 0 0 94 28 22.9508 DAG1 0 genome.wustl.edu 37 3 49569629 49569629 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49569629 49569629 A G SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.1685 p.Y562C 0.998 superfamily_Cadherin-like,smart_Cadg pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 66 0 0 39 9 18.75 MON1A 0 genome.wustl.edu 37 3 49948980 49948980 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 49948980 49948980 C T SNP MON1A ENST00000296473 human ensembl 74_37 -1 known missense c.883 p.A295T 1.000 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 93 0 0 80 36 31.0345 RBM6 0 genome.wustl.edu 37 3 50095850 50095850 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 50095850 50095850 G A SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.1985 p.R662H 1.000 smart_RRM_dom pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 172 0 0 146 45 23.5602 BHLHE40 0 genome.wustl.edu 37 3 5023160 5023160 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 5023160 5023160 G A SNP BHLHE40 ENST00000256495 human ensembl 74_37 +1 known silent c.342 p.Q114 1.000 superfamily_bHLH_dom pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 346 0 0 248 64 20.5128 GRM2 0 genome.wustl.edu 37 3 51749475 51749475 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 51749475 51749475 C A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.1686 p.R562 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 75 0 0 71 5 6.57895 DNAH1 0 genome.wustl.edu 37 3 52412741 52412741 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 52412741 52412741 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.7322 p.R2441K 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 177 0 0 149 25 14.3678 NISCH 0 genome.wustl.edu 37 3 52526199 52526199 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 52526199 52526199 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.4216 p.R1406W 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 166 0 0 151 10 6.21118 ITIH1 0 genome.wustl.edu 37 3 52813485 52813485 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 52813485 52813485 C A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.448 p.L150I 0.768 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 66 0 0 43 5 10.4167 ITIH4 0 genome.wustl.edu 37 3 52847501 52847501 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 52847501 52847501 C T SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.2729 p.R910H 0.988 pfam_ITI_HC_C pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 99 0 0 67 32 32.3232 RFT1 0 genome.wustl.edu 37 3 53156577 53156577 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 53156577 53156577 A G SNP RFT1 ENST00000296292 human ensembl 74_37 -1 known missense c.269 p.V90A 1.000 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC ENSG00000163933 52 0 0 26 14 35 CACNA1D 0 genome.wustl.edu 37 3 53760915 53760915 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 53760915 53760915 G T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.2170 p.G724C 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 200 0 0 136 39 22.2857 CACNA1D 0 genome.wustl.edu 37 3 53777054 53777054 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 53777054 53777054 C A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.2888 p.A963D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 99 0 0 84 6 6.66667 CHDH 0 genome.wustl.edu 37 3 53852202 53852202 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 53852202 53852202 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known missense c.1387 p.R463C 1.000 pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 37 0 0 25 19 43.1818 FLNB 0 genome.wustl.edu 37 3 58094188 58094188 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 58094188 58094188 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known nonsense c.1945 p.R649* 0.933 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 39 0 0 17 7 29.1667 FLNB 0 genome.wustl.edu 37 3 58098037 58098037 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 58098037 58098037 A G SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.2737 p.T913A 0.485 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 101 0 0 46 22 32.3529 PXK 0 genome.wustl.edu 37 3 58380796 58380796 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 58380796 58380796 C T SNP PXK ENST00000356151 human ensembl 74_37 +1 known silent c.687 p.N229 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 98 0 0 60 20 25 FHIT 0 genome.wustl.edu 37 3 59999865 59999865 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 59999865 59999865 G A SNP FHIT ENST00000341848 human ensembl 74_37 -1 known silent c.117 p.C39 0.981 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like - no_errors FHIT HGNC ENSG00000189283 57 0 0 47 9 16.0714 CADPS 0 genome.wustl.edu 37 3 62860690 62860690 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 62860690 62860690 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known silent c.15 p.S5 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 26 0 0 13 9 40.9091 PRICKLE2 0 genome.wustl.edu 37 3 64085234 64085234 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 64085234 64085234 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known silent c.2028 p.R676 0.005 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 54 0 0 57 9 13.6364 ADAMTS9 0 genome.wustl.edu 37 3 64644466 64644466 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 64644466 64644466 T C SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known silent c.681 p.E227 0.670 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 153 1 0.649351 100 23 18.6992 LRIG1 0 genome.wustl.edu 37 3 66430714 66430714 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 66430714 66430714 C T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.3255 p.V1085 0.089 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 103 0 0 55 18 24.6575 LRIG1 0 genome.wustl.edu 37 3 66436662 66436662 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 66436662 66436662 T C SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.1532 p.D511G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 267 0 0 225 70 23.7288 LRIG1 0 genome.wustl.edu 37 3 66463427 66463427 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 66463427 66463427 C T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.659 p.R220Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 69 0 0 34 15 30.6122 FRMD4B 0 genome.wustl.edu 37 3 69231821 69231821 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 69231821 69231821 C T SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known missense c.1967 p.R656Q 0.986 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 200 0 0 186 19 9.26829 FRMD4B 0 genome.wustl.edu 37 3 69435090 69435090 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 69435090 69435090 G A SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known silent c.51 p.S17 1.000 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 31 0 0 19 6 24 FOXP1 0 genome.wustl.edu 37 3 71015109 71015109 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 71015109 71015109 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.1821 p.N607 0.955 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 176 0 0 123 46 27.2189 EIF4E3 0 genome.wustl.edu 37 3 71745673 71745673 + Splice_Site SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 71745673 71745673 T G SNP EIF4E3 ENST00000425534 human ensembl 74_37 -1 known splice_site c.345-2 e4-2 1.000 - - - no_errors EIF4E3 HGNC ENSG00000163412 52 0 0 59 12 16.9014 PDZRN3 0 genome.wustl.edu 37 3 73433841 73433841 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 73433841 73433841 T C SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1876 p.I626V 0.647 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 179 0 0 155 9 5.4878 CNTN3 0 genome.wustl.edu 37 3 74351871 74351871 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 74351871 74351871 C A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1756 p.V586F 0.854 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 24 0 0 13 6 31.5789 CNTN3 0 genome.wustl.edu 37 3 74420514 74420514 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 74420514 74420514 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.491 p.S164L 0.084 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 31 0 0 35 7 16.6667 ROBO1 0 genome.wustl.edu 37 3 78988044 78988044 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 78988044 78988044 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.206 p.R69H 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 80 0 0 66 11 14.2857 CGGBP1 0 genome.wustl.edu 37 3 88104748 88104748 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 88104748 88104748 G A SNP CGGBP1 ENST00000309534 human ensembl 74_37 -1 known missense c.379 p.R127C 1.000 NULL NULL - no_errors CGGBP1 HGNC ENSG00000163320 65 0 0 40 12 23.0769 EPHA3 0 genome.wustl.edu 37 3 89521671 89521671 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 89521671 89521671 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.2748 p.T916 0.823 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 175 0 0 104 27 20.6107 SRGAP3 0 genome.wustl.edu 37 3 9057341 9057341 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 9057341 9057341 G A SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known nonsense c.1753 p.R585* 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 77 0 0 47 10 17.5439 DHFRL1 0 genome.wustl.edu 37 3 93779907 93779907 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 93779907 93779907 G A SNP DHFRL1 ENST00000314636 human ensembl 74_37 -1 known missense c.449 p.S150L 1.000 pfam_DHFR_dom,superfamily_DHFR-like_dom pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC ENSG00000178700 121 0 0 82 37 31.0924 CPNE9 0 genome.wustl.edu 37 3 9747737 9747737 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 9747737 9747737 C T SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known nonsense c.367 p.R123* 0.910 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 71 0 0 77 17 18.0851 IL17RC 0 genome.wustl.edu 37 3 9970062 9970062 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 9970062 9970062 C T SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known silent c.1164 p.D388 0.018 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 82 0 0 77 11 12.5 WDR1 0 genome.wustl.edu 37 4 10080565 10080565 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 10080565 10080565 C T SNP WDR1 ENST00000382452 human ensembl 74_37 -1 known missense c.1345 p.E449K 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR1 HGNC ENSG00000071127 64 0 0 35 10 22.2222 SLC9B2 0 genome.wustl.edu 37 4 103964539 103964539 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 103964539 103964539 T C SNP SLC9B2 ENST00000362026 human ensembl 74_37 -1 known missense c.1060 p.S354G 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC ENSG00000164038 62 0 0 35 15 30 CENPE 0 genome.wustl.edu 37 4 104067058 104067058 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 104067058 104067058 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.4341 p.L1447 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 67 0 0 42 18 30 TET2 0 genome.wustl.edu 37 4 106158465 106158465 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 106158465 106158465 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known silent c.3366 p.T1122 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 70 0 0 64 4 5.88235 SGMS2 0 genome.wustl.edu 37 4 108831653 108831653 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 108831653 108831653 T C SNP SGMS2 ENST00000359079 human ensembl 74_37 +1 known missense c.1042 p.C348R 0.997 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase - no_errors SGMS2 HGNC ENSG00000164023 45 0 0 25 13 34.2105 ENPEP 0 genome.wustl.edu 37 4 111434597 111434597 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 111434597 111434597 A G SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.1335 p.V445 0.002 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 69 0 0 40 14 25.9259 NDST3 0 genome.wustl.edu 37 4 119154278 119154278 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 119154278 119154278 G T SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1931 p.R644M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 68 0 0 40 17 29.8246 TRPC3 0 genome.wustl.edu 37 4 122854138 122854138 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 122854138 122854138 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.275 p.R92H 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 72 0 0 46 4 8 BBS12 0 genome.wustl.edu 37 4 123664512 123664512 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 123664512 123664512 G A SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1465 p.A489T 0.003 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 63 0 0 53 15 22.0588 ANKRD50 0 genome.wustl.edu 37 4 125590318 125590318 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 125590318 125590318 T C SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.4114 p.N1372D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 102 0 0 51 25 32.8947 FAT4 0 genome.wustl.edu 37 4 126238356 126238356 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 126238356 126238356 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.790 p.V264I 0.081 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 45 0 0 45 27 37.5 FAT4 0 genome.wustl.edu 37 4 126238440 126238440 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 126238440 126238440 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known nonsense c.874 p.E292* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 58 0 0 50 12 19.3548 FAT4 0 genome.wustl.edu 37 4 126239547 126239547 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 126239547 126239547 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1981 p.A661T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 67 0 0 49 14 22.2222 FAT4 0 genome.wustl.edu 37 4 126389897 126389897 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 126389897 126389897 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12130 p.G4044C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 92 0 0 76 6 7.31707 HSPA4L 0 genome.wustl.edu 37 4 128753955 128753955 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 128753955 128753955 A G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.2539 p.T847A 0.001 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 77 0 0 58 15 20.5479 LARP1B 0 genome.wustl.edu 37 4 129012266 129012266 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 129012266 129012266 C T SNP LARP1B ENST00000326639 human ensembl 74_37 +1 known missense c.469 p.R157W 0.987 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 77 0 0 57 27 32.1429 PCDH10 0 genome.wustl.edu 37 4 134073774 134073774 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 134073774 134073774 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2479 p.P827T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 71 0 0 72 5 6.49351 TBC1D9 0 genome.wustl.edu 37 4 141600232 141600232 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 141600232 141600232 T C SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.715 p.N239D 0.988 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 173 0 0 97 48 33.1034 GUSBP5 0 genome.wustl.edu 37 4 144480895 144480895 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 144480895 144480895 G A SNP GUSBP5 ENST00000509369 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GUSBP5 HGNC ENSG00000236296 12 0 0 2 3 60 OTUD4 0 genome.wustl.edu 37 4 146059097 146059097 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 146059097 146059097 G A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known nonsense c.2830 p.R944* 0.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 119 0 0 111 9 7.5 CPEB2 0 genome.wustl.edu 37 4 15005744 15005744 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 15005744 15005744 G T SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.1447 p.G483C 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 17 0 0 13 9 40.9091 MAB21L2 0 genome.wustl.edu 37 4 151504767 151504767 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 151504767 151504767 G A SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.586 p.G196S 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 75 0 0 99 6 5.71429 PRSS48 0 genome.wustl.edu 37 4 152203364 152203364 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 152203364 152203364 C T SNP PRSS48 ENST00000455694 human ensembl 74_37 +1 known missense c.280 p.R94C 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS48 HGNC ENSG00000189099 243 0 0 243 14 5.44747 DCHS2 0 genome.wustl.edu 37 4 155226011 155226011 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 155226011 155226011 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.4050 p.G1350 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 25 0 0 9 10 52.6316 DCHS2 0 genome.wustl.edu 37 4 155254535 155254535 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 155254535 155254535 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1328 p.T443M 0.025 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 77 0 0 86 9 9.47368 FGA 0 genome.wustl.edu 37 4 155507817 155507817 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 155507817 155507817 G A SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.764 p.P255L 0.085 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 133 0 0 88 38 30.1587 ASIC5 0 genome.wustl.edu 37 4 156759985 156759985 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 156759985 156759985 C A SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.1046 p.S349I 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 20 0 0 14 3 17.6471 TLL1 0 genome.wustl.edu 37 4 166929184 166929184 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 166929184 166929184 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.901 p.R301G 1.000 pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 64 0 0 54 4 6.89655 FGFR3 0 genome.wustl.edu 37 4 1804796 1804796 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 1804796 1804796 C T SNP FGFR3 ENST00000474521 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors FGFR3 HGNC ENSG00000068078 15 0 0 10 3 23.0769 TENM3 0 genome.wustl.edu 37 4 183664473 183664473 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 183664473 183664473 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3530 p.A1177V 0.998 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 70 0 0 77 7 8.33333 CLDN22 0 genome.wustl.edu 37 4 184241061 184241061 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 184241061 184241061 C T SNP CLDN22 ENST00000323319 human ensembl 74_37 -1 known missense c.311 p.C104Y 0.999 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 49 0 0 32 20 38.4615 ING2 0 genome.wustl.edu 37 4 184432040 184432040 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 184432040 184432040 G T SNP ING2 ENST00000302327 human ensembl 74_37 +1 known nonsense c.778 p.G260* 1.000 pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 36 0 0 28 4 12.5 STOX2 0 genome.wustl.edu 37 4 184931902 184931902 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 184931902 184931902 C T SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known silent c.1911 p.S637 0.990 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 37 0 0 20 10 33.3333 IRF2 0 genome.wustl.edu 37 4 185309954 185309954 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 185309954 185309954 C T SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known silent c.1008 p.K336 1.000 NULL pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 146 0 0 117 10 7.87402 PRIMPOL 0 genome.wustl.edu 37 4 185606793 185606793 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 185606793 185606793 G A SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known missense c.1250 p.R417Q 1.000 pfam_DNA_primase_UL52/UL70_Herpvir pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 77 0 0 63 13 17.1053 MLF1IP 0 genome.wustl.edu 37 4 185652122 185652122 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 185652122 185652122 G A SNP MLF1IP ENST00000281453 human ensembl 74_37 -1 known silent c.48 p.G16 0.127 NULL NULL - no_errors MLF1IP HGNC ENSG00000151725 27 0 0 19 6 24 MTNR1A 0 genome.wustl.edu 37 4 187454960 187454960 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 187454960 187454960 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.936 p.S312 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 125 0 0 125 8 6.01504 FAT1 0 genome.wustl.edu 37 4 187541000 187541000 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 187541000 187541000 T C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6740 p.H2247R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 165 0 0 115 46 28.5714 FAT1 0 genome.wustl.edu 37 4 187628340 187628340 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 187628340 187628340 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.2642 p.R881H 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 101 0 0 66 27 29.0323 TRIML2 0 genome.wustl.edu 37 4 189026334 189026334 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 189026334 189026334 C A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.39 p.R13S 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 217 0 0 164 19 10.3825 WHSC1 0 genome.wustl.edu 37 4 1957837 1957837 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 1957837 1957837 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known nonsense c.2803 p.R935* 0.997 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 228 0 0 177 53 23.0435 WHSC1 0 genome.wustl.edu 37 4 1977117 1977117 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 1977117 1977117 A G SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3611 p.D1204G 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 63 0 0 53 5 8.62069 ZNF876P 0 genome.wustl.edu 37 4 206442 206442 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 206442 206442 C T SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF876P HGNC ENSG00000198155 23 0 0 14 6 30 KCNIP4 0 genome.wustl.edu 37 4 20734314 20734314 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 20734314 20734314 G A SNP KCNIP4 ENST00000382150 human ensembl 74_37 -1 known missense c.569 p.T190I 0.995 pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 43 0 0 24 7 22.5806 GPR125 0 genome.wustl.edu 37 4 22390718 22390718 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 22390718 22390718 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.2716 p.A906T 0.995 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 270 1 0.369004 200 15 6.97674 MIR573 0 genome.wustl.edu 37 4 24521907 24521907 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 24521907 24521907 C T SNP MIR573 ENST00000384964 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR573 HGNC ENSG00000207697 128 0 0 80 38 32.2034 DHX15 0 genome.wustl.edu 37 4 24534683 24534683 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 24534683 24534683 A G SNP DHX15 ENST00000512903 human ensembl 74_37 -1 known rna NULL NULL 0.961 - - - no_errors DHX15 HGNC ENSG00000109606 129 0 0 126 23 15.4362 SOD3 0 genome.wustl.edu 37 4 24801296 24801296 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 24801296 24801296 G A SNP SOD3 ENST00000382120 human ensembl 74_37 +1 known silent c.153 p.Q51 0.001 NULL pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom - no_errors SOD3 HGNC ENSG00000109610 22 0 0 24 4 14.2857 LGI2 0 genome.wustl.edu 37 4 25005411 25005411 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 25005411 25005411 G T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.1300 p.L434I 0.998 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 353 0 0 218 82 27.3333 LGI2 0 genome.wustl.edu 37 4 25005661 25005661 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 25005661 25005661 C A SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known silent c.1050 p.L350 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 80 0 0 49 22 30.9859 TBC1D19 0 genome.wustl.edu 37 4 26741507 26741507 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 26741507 26741507 A G SNP TBC1D19 ENST00000264866 human ensembl 74_37 +1 known missense c.1139 p.Y380C 1.000 pfam_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 76 0 0 52 4 7.14286 TBC1D19 0 genome.wustl.edu 37 4 26750039 26750039 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 26750039 26750039 C T SNP TBC1D19 ENST00000264866 human ensembl 74_37 +1 known silent c.1326 p.R442 0.080 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 70 0 0 60 6 9.09091 NOP14 0 genome.wustl.edu 37 4 2949328 2949328 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 2949328 2949328 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1424 p.G475D 1.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 85 0 0 80 6 6.97674 PCDH7 0 genome.wustl.edu 37 4 30724189 30724189 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 30724189 30724189 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1145 p.R382H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 76 0 0 45 14 23.7288 HTT 0 genome.wustl.edu 37 4 3214391 3214391 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 3214391 3214391 T C SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.6729 p.P2243 0.681 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 141 0 0 115 14 10.8527 RGS12 0 genome.wustl.edu 37 4 3319606 3319606 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 3319606 3319606 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1709 p.G570D 1.000 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 140 0 0 111 38 25.5034 RFC1 0 genome.wustl.edu 37 4 39297317 39297317 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 39297317 39297317 G T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known silent c.2874 p.T958 0.037 pfam_DNA_replication_fac_RFC1_C,superfamily_DNA_pol3_clamp-load_cplx_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 73 0 0 45 24 34.7826 RFC1 0 genome.wustl.edu 37 4 39310271 39310271 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 39310271 39310271 C T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.1870 p.E624K 0.856 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 114 0 0 101 6 5.60748 KLB 0 genome.wustl.edu 37 4 39435905 39435905 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 39435905 39435905 G T SNP KLB ENST00000257408 human ensembl 74_37 +1 known nonsense c.901 p.G301* 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 55 0 0 43 22 33.8462 UBE2K 0 genome.wustl.edu 37 4 39780060 39780060 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 39780060 39780060 A G SNP UBE2K ENST00000438068 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2K HGNC ENSG00000078140 27 0 0 28 4 12.5 APBB2 0 genome.wustl.edu 37 4 40892459 40892459 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 40892459 40892459 T C SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known missense c.1448 p.D483G 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 72 0 0 63 18 22.2222 SLC30A9 0 genome.wustl.edu 37 4 42072624 42072624 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 42072624 42072624 A T SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known missense c.1334 p.N445I 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 65 0 0 67 19 22.093 BEND4 0 genome.wustl.edu 37 4 42122137 42122137 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 42122137 42122137 C T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.1321 p.V441M 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 44 0 0 24 17 41.4634 KCTD8 0 genome.wustl.edu 37 4 44450512 44450512 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 44450512 44450512 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.29 p.G10D 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 23 0 0 9 9 50 GABRG1 0 genome.wustl.edu 37 4 46043217 46043217 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 46043217 46043217 C T SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.1186 p.V396M 0.855 superfamily_Neurotrans-gated_channel_TM,prints_GABBAg1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 52 0 0 43 13 23.2143 COMMD8 0 genome.wustl.edu 37 4 47458691 47458691 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 47458691 47458691 C T SNP COMMD8 ENST00000381571 human ensembl 74_37 -1 known missense c.278 p.C93Y 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD8 HGNC ENSG00000169019 91 0 0 45 10 18.1818 CNGA1 0 genome.wustl.edu 37 4 47939658 47939658 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 47939658 47939658 A T SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.1060 p.F354I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 74 0 0 38 21 35.5932 GSX2 0 genome.wustl.edu 37 4 54967834 54967834 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 54967834 54967834 A G SNP GSX2 ENST00000326902 human ensembl 74_37 +1 known silent c.660 p.E220 0.999 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 138 0 0 87 37 29.8387 EVC2 0 genome.wustl.edu 37 4 5630345 5630345 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 5630345 5630345 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.1827 p.V609 0.007 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 73 0 0 48 19 28.3582 EVC2 0 genome.wustl.edu 37 4 5642272 5642272 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 5642272 5642272 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1439 p.A480V 0.997 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 296 0 0 148 78 34.5133 CEP135 0 genome.wustl.edu 37 4 56877592 56877592 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 56877592 56877592 A G SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known silent c.2520 p.E840 0.976 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 63 0 0 59 4 6.34921 JAKMIP1 0 genome.wustl.edu 37 4 6083412 6083412 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 6083412 6083412 T G SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1025 p.K342T 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 70 0 0 57 15 20.8333 EPHA5 0 genome.wustl.edu 37 4 66467570 66467570 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 66467570 66467570 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.699 p.C233 1.000 pfam_Ephrin_rcpt_lig-bd_dom,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 68 0 0 40 16 28.5714 KIAA0232 0 genome.wustl.edu 37 4 6862629 6862629 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 6862629 6862629 T C SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.520 p.Y174H 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 81 0 0 57 22 27.8481 TBC1D14 0 genome.wustl.edu 37 4 6925349 6925349 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 6925349 6925349 C A SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known missense c.233 p.P78H 0.642 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 107 0 0 93 5 5.10204 UGT2B15 0 genome.wustl.edu 37 4 69536320 69536320 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 69536320 69536320 G A SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known missense c.17 p.T6M 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 274 0 0 233 21 8.26772 UGT2B28 0 genome.wustl.edu 37 4 70146646 70146646 + Nonsense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 70146646 70146646 C G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known nonsense c.428 p.S143* 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 89 0 0 54 31 36.4706 SLC4A4 0 genome.wustl.edu 37 4 72317017 72317017 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 72317017 72317017 C T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.1321 p.R441W 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 56 0 0 44 5 10.2041 GC 0 genome.wustl.edu 37 4 72649718 72649718 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 72649718 72649718 T C SNP GC ENST00000273951 human ensembl 74_37 -1 known silent c.18 p.V6 0.013 NULL pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 63 0 0 46 4 8 NPFFR2 0 genome.wustl.edu 37 4 72897894 72897894 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 72897894 72897894 C T SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known silent c.276 p.A92 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 43 0 0 53 5 8.62069 NPFFR2 0 genome.wustl.edu 37 4 73003815 73003815 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 73003815 73003815 C T SNP NPFFR2 ENST00000344413 human ensembl 74_37 +1 known missense c.358 p.R120C 0.847 NULL NULL - no_errors NPFFR2 HGNC ENSG00000056291 31 0 0 22 9 29.0323 PCGF3 0 genome.wustl.edu 37 4 737367 737367 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 737367 737367 G A SNP PCGF3 ENST00000362003 human ensembl 74_37 +1 known missense c.368 p.R123Q 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 39 0 0 28 8 22.2222 AFM 0 genome.wustl.edu 37 4 74354469 74354469 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 74354469 74354469 G A SNP AFM ENST00000226355 human ensembl 74_37 +1 known missense c.836 p.R279H 0.000 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 56 0 0 69 6 8 AREG 0 genome.wustl.edu 37 4 75312384 75312384 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 75312384 75312384 T C SNP AREG ENST00000264487 human ensembl 74_37 +1 known silent c.195 p.P65 0.001 NULL pfscan_EG-like_dom - no_errors AREG HGNC ENSG00000109321 45 0 0 42 7 14.2857 SORCS2 0 genome.wustl.edu 37 4 7726880 7726880 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 7726880 7726880 G A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known splice_site c.2612-1 e20-1 1.000 - - - no_errors SORCS2 HGNC ENSG00000184985 90 0 0 89 10 10.101 SORCS2 0 genome.wustl.edu 37 4 7728581 7728581 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 7728581 7728581 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.2820 p.A940 0.532 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 103 0 0 98 9 8.41121 GAK 0 genome.wustl.edu 37 4 871470 871470 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 871470 871470 G A SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.1789 p.P597S 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 77 0 0 58 5 7.93651 PTPN13 0 genome.wustl.edu 37 4 87690963 87690963 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 87690963 87690963 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.4546 p.L1516 0.997 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 40 0 0 12 11 47.8261 AFF1 0 genome.wustl.edu 37 4 88026993 88026993 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 88026993 88026993 C G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.1372 p.P458A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 80 0 0 26 22 45.8333 AFF1 0 genome.wustl.edu 37 4 88047456 88047456 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 88047456 88047456 G T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.2779 p.G927W 0.999 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 55 0 0 23 14 37.8378 NUDT9 0 genome.wustl.edu 37 4 88375609 88375609 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 88375609 88375609 T C SNP NUDT9 ENST00000302174 human ensembl 74_37 +1 known splice_site c.874+2 e7+2 1.000 - - - no_errors NUDT9 HGNC ENSG00000170502 25 0 0 18 13 41.9355 IDUA 0 genome.wustl.edu 37 4 995271 995271 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 995271 995271 C T SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.368 p.A123V 0.000 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_39 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 135 1 0.735294 83 31 27.193 IDUA 0 genome.wustl.edu 37 4 996842 996842 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 996842 996842 G A SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.1487 p.R496H 0.011 pfam_Glyco_hydro_39 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 11 0 0 10 9 47.3684 SLCO6A1 0 genome.wustl.edu 37 5 101709039 101709039 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 101709039 101709039 A G SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known splice_site c.2160+2 e13+2 0.872 - - - no_errors SLCO6A1 HGNC ENSG00000205359 34 0 0 27 3 10 CCT5 0 genome.wustl.edu 37 5 10261696 10261696 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 10261696 10261696 C T SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known missense c.1018 p.R340W 0.994 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 375 1 0.265957 239 80 25.0784 MARCH6 0 genome.wustl.edu 37 5 10417411 10417411 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 10417411 10417411 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.2178 p.L726 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 156 0 0 108 33 23.4043 ROPN1L 0 genome.wustl.edu 37 5 10461379 10461379 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 10461379 10461379 G A SNP ROPN1L ENST00000274134 human ensembl 74_37 +1 known silent c.501 p.T167 0.139 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1L HGNC ENSG00000145491 110 0 0 77 9 10.4651 SLC12A7 0 genome.wustl.edu 37 5 1085569 1085569 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 1085569 1085569 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.695 p.A232V 0.890 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 19 0 0 19 7 26.9231 MAN2A1 0 genome.wustl.edu 37 5 109181595 109181595 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 109181595 109181595 G A SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known silent c.2730 p.L910 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 121 0 0 95 7 6.86275 APC 0 genome.wustl.edu 37 5 112176452 112176452 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 112176452 112176452 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.5161 p.G1721C 1.000 pfam_SAMP pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 52 0 0 48 16 25 ENSG00000272869 0 genome.wustl.edu 37 5 112197022 112197022 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 112197022 112197022 T C SNP ENSG00000272869 ENST00000503445 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-487M23.8 Clone_based_vega_gene ENSG00000272869 102 0 0 105 33 23.913 TSSK1B 0 genome.wustl.edu 37 5 112770511 112770511 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 112770511 112770511 C T SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.26 p.R9Q 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 73 0 0 49 21 30 CTNND2 0 genome.wustl.edu 37 5 11384837 11384837 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 11384837 11384837 T C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1117 p.S373G 0.992 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 30 0 0 21 11 34.375 CDO1 0 genome.wustl.edu 37 5 115152117 115152117 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 115152117 115152117 C T SNP CDO1 ENST00000504613 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors CDO1 HGNC ENSG00000129596 148 0 0 127 20 13.6054 AQPEP 0 genome.wustl.edu 37 5 115298780 115298780 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 115298780 115298780 G A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.466 p.A156T 0.040 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 53 0 0 47 30 38.961 DMXL1 0 genome.wustl.edu 37 5 118433791 118433791 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 118433791 118433791 C T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known nonsense c.205 p.Q69* 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 76 0 0 61 8 11.5942 PRR16 0 genome.wustl.edu 37 5 119800237 119800237 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 119800237 119800237 C T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.56 p.P19L 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 19 0 0 14 5 26.3158 LOX 0 genome.wustl.edu 37 5 121413257 121413257 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 121413257 121413257 C T SNP LOX ENST00000231004 human ensembl 74_37 -1 known missense c.424 p.A142T 0.007 NULL pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 37 0 0 52 7 11.8644 SNX2 0 genome.wustl.edu 37 5 122165360 122165360 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 122165360 122165360 G A SNP SNX2 ENST00000506847 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX2 HGNC ENSG00000205302 33 0 0 36 2 5.26316 PHF15 0 genome.wustl.edu 37 5 133914473 133914473 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 133914473 133914473 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known silent c.1839 p.D613 0.008 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 54 0 0 77 17 18.0851 SPOCK1 0 genome.wustl.edu 37 5 136448205 136448205 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 136448205 136448205 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known silent c.393 p.S131 0.684 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 69 0 0 52 14 21.2121 SPOCK1 0 genome.wustl.edu 37 5 136834106 136834106 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 136834106 136834106 C T SNP SPOCK1 ENST00000282223 human ensembl 74_37 -1 known missense c.142 p.V48I 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 33 0 0 32 14 30.4348 KLHL3 0 genome.wustl.edu 37 5 136969816 136969816 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 136969816 136969816 G A SNP KLHL3 ENST00000309755 human ensembl 74_37 -1 known missense c.1360 p.R454C 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC ENSG00000146021 103 0 0 94 19 16.8142 GFRA3 0 genome.wustl.edu 37 5 137593396 137593396 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 137593396 137593396 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.717 p.C239 0.999 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 38 0 0 71 5 6.57895 GFRA3 0 genome.wustl.edu 37 5 137593558 137593558 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 137593558 137593558 C T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.555 p.A185 0.825 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 63 0 0 83 9 9.78261 GFRA3 0 genome.wustl.edu 37 5 137595250 137595250 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 137595250 137595250 T G SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.468 p.K156N 1.000 prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 46 0 0 65 4 5.7971 FAM53C 0 genome.wustl.edu 37 5 137680703 137680703 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 137680703 137680703 C T SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known missense c.326 p.P109L 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 134 0 0 111 28 20.1439 DNAH5 0 genome.wustl.edu 37 5 13817685 13817685 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 13817685 13817685 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.6960 p.L2320 0.963 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 70 0 0 46 9 16.3636 NRG2 0 genome.wustl.edu 37 5 139228159 139228159 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 139228159 139228159 C T SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known silent c.1902 p.P634 0.489 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 20 0 0 19 4 17.3913 ANKHD1 0 genome.wustl.edu 37 5 139909369 139909369 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 139909369 139909369 A G SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.6838 p.T2280A 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 82 0 0 74 23 23.7113 PCDHA8 0 genome.wustl.edu 37 5 140222372 140222372 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140222372 140222372 T G SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1466 p.L489R 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 224 0 0 148 126 45.9854 PCDHA9 0 genome.wustl.edu 37 5 140230511 140230511 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140230511 140230511 T G SNP PCDHA9 ENST00000378122 human ensembl 74_37 +1 known missense c.2431 p.F811V 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 98 0 0 91 32 26.0163 PCDHB5 0 genome.wustl.edu 37 5 140516534 140516534 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140516534 140516534 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1518 p.N506 0.932 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 316 0 0 201 159 44.1667 PCDHB7 0 genome.wustl.edu 37 5 140553206 140553206 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140553206 140553206 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.790 p.V264M 0.130 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 91 0 0 105 13 11.0169 PCDHB16 0 genome.wustl.edu 37 5 140564126 140564126 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140564126 140564126 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1992 p.D664 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 130 0 0 110 50 31.25 PCDHB10 0 genome.wustl.edu 37 5 140572634 140572634 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140572634 140572634 A G SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.509 p.Y170C 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 212 0 0 210 53 20.1521 PCDHB13 0 genome.wustl.edu 37 5 140595829 140595829 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140595829 140595829 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.2134 p.R712W 0.059 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 285 1 0.34965 293 68 18.8366 PCDHB14 0 genome.wustl.edu 37 5 140603872 140603872 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140603872 140603872 A G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.795 p.S265 0.947 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 78 0 0 85 8 8.60215 PCDHB15 0 genome.wustl.edu 37 5 140625174 140625174 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140625174 140625174 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.28 p.E10K 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 53 0 0 78 6 7.14286 PCDHGA2 0 genome.wustl.edu 37 5 140720428 140720428 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140720428 140720428 A G SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1890 p.R630 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 148 1 0.671141 155 33 17.5532 PCDHGA3 0 genome.wustl.edu 37 5 140723736 140723736 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140723736 140723736 G T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.136 p.G46C 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 221 0 0 283 20 6.60066 PCDHGA3 0 genome.wustl.edu 37 5 140724818 140724818 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140724818 140724818 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1218 p.T406 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 89 0 0 57 53 48.1818 PCDHGA4 0 genome.wustl.edu 37 5 140736283 140736283 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140736283 140736283 T G SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.1516 p.S506A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 195 0 0 166 41 19.8068 PCDHGA7 0 genome.wustl.edu 37 5 140763821 140763821 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140763821 140763821 T C SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1355 p.F452S 0.997 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 80 0 0 65 5 7.14286 PCDHGA8 0 genome.wustl.edu 37 5 140774582 140774582 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140774582 140774582 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.2202 p.G734 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 57 0 0 58 5 7.93651 PCDHGA11 0 genome.wustl.edu 37 5 140800981 140800981 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140800981 140800981 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.187 p.R63C 0.087 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 128 1 0.775194 148 13 8.07453 PCDHGA11 0 genome.wustl.edu 37 5 140802087 140802087 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140802087 140802087 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.1293 p.P431 0.351 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 151 0 0 166 36 17.8218 PCDHGA12 0 genome.wustl.edu 37 5 140812146 140812146 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140812146 140812146 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1820 p.R607H 0.895 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 166 0 0 168 52 23.6364 PCDHGC5 0 genome.wustl.edu 37 5 140869322 140869322 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140869322 140869322 T A SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.515 p.L172Q 0.891 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 60 0 0 83 5 5.68182 PCDH1 0 genome.wustl.edu 37 5 141243886 141243886 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 141243886 141243886 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.2010 p.S670 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 63 0 0 78 26 25 TRIO 0 genome.wustl.edu 37 5 14363930 14363930 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 14363930 14363930 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.2481 p.R827 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 80 0 0 60 4 6.25 TRIO 0 genome.wustl.edu 37 5 14481681 14481681 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 14481681 14481681 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.6419 p.R2140M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 161 0 0 118 25 17.4825 POU4F3 0 genome.wustl.edu 37 5 145719489 145719489 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 145719489 145719489 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.499 p.V167M 1.000 NULL 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 - no_errors POU4F3 HGNC ENSG00000091010 79 0 0 105 8 7.07965 POU4F3 0 genome.wustl.edu 37 5 145719769 145719769 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 145719769 145719769 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.779 p.R260Q 1.000 superfamily_Homeodomain-like 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 - no_errors POU4F3 HGNC ENSG00000091010 100 0 0 99 17 14.6552 STK32A 0 genome.wustl.edu 37 5 146750300 146750300 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 146750300 146750300 C A SNP STK32A ENST00000397936 human ensembl 74_37 +1 known silent c.744 p.A248 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32A HGNC ENSG00000169302 131 0 0 138 10 6.75676 JAKMIP2 0 genome.wustl.edu 37 5 147024496 147024496 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 147024496 147024496 C T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1000 p.A334T 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 98 0 0 108 12 10 FBXO38 0 genome.wustl.edu 37 5 147793715 147793715 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 147793715 147793715 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known silent c.1110 p.A370 0.997 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 86 0 0 60 41 40.5941 ADRB2 0 genome.wustl.edu 37 5 148207281 148207281 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 148207281 148207281 A G SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known missense c.887 p.H296R 0.979 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 100 0 0 41 41 50 ABLIM3 0 genome.wustl.edu 37 5 148596538 148596538 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 148596538 148596538 A G SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.686 p.Y229C 1.000 pfam_Znf_LIM,smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 43 0 0 61 8 11.5942 IL17B 0 genome.wustl.edu 37 5 148756492 148756492 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 148756492 148756492 G T SNP IL17B ENST00000261796 human ensembl 74_37 -1 known missense c.118 p.P40T 0.842 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 109 0 0 74 85 53.4591 CSF1R 0 genome.wustl.edu 37 5 149433654 149433654 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 149433654 149433654 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.2897 p.P966L 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 33 0 0 52 6 10.3448 CSF1R 0 genome.wustl.edu 37 5 149459829 149459829 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 149459829 149459829 G T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.378 p.P126 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 68 0 0 58 17 22.6667 SLC6A7 0 genome.wustl.edu 37 5 149589080 149589080 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 149589080 149589080 A T SNP SLC6A7 ENST00000230671 human ensembl 74_37 +1 known missense c.1813 p.M605L 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 59 0 0 59 10 14.4928 ENSG00000250309 0 genome.wustl.edu 37 5 150050262 150050262 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 150050262 150050262 C A SNP ENSG00000250309 ENST00000511626 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTC-345K18.2 Clone_based_vega_gene ENSG00000250309 18 0 0 15 6 28.5714 DCTN4 0 genome.wustl.edu 37 5 150110226 150110226 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 150110226 150110226 T C SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known silent c.822 p.K274 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 340 0 0 371 22 5.59796 FAT2 0 genome.wustl.edu 37 5 150887100 150887100 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 150887100 150887100 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.12132 p.W4044C 1.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 85 0 0 90 11 10.8911 FAT2 0 genome.wustl.edu 37 5 150924502 150924502 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 150924502 150924502 A G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.6186 p.D2062 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 108 0 0 76 54 41.5385 FAT2 0 genome.wustl.edu 37 5 150945335 150945335 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 150945335 150945335 A T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.3158 p.V1053E 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 72 0 0 72 4 5.26316 NMUR2 0 genome.wustl.edu 37 5 151784353 151784353 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 151784353 151784353 G A SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.322 p.R108C 0.692 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 150 0 0 199 12 5.6872 FAM114A2 0 genome.wustl.edu 37 5 153414380 153414380 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 153414380 153414380 G T SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known missense c.134 p.P45H 0.831 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 153 0 0 174 15 7.93651 MFAP3 0 genome.wustl.edu 37 5 153432962 153432962 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 153432962 153432962 C T SNP MFAP3 ENST00000322602 human ensembl 74_37 +1 known nonsense c.778 p.R260* 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3 HGNC ENSG00000037749 81 0 0 105 6 5.40541 GEMIN5 0 genome.wustl.edu 37 5 154299619 154299619 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 154299619 154299619 C A SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known nonsense c.1507 p.G503* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 38 0 0 51 4 7.27273 FNDC9 0 genome.wustl.edu 37 5 156770019 156770019 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 156770019 156770019 G A SNP FNDC9 ENST00000312349 human ensembl 74_37 -1 known nonsense c.526 p.Q176* 1.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 141 0 0 90 68 43.038 ADAM19 0 genome.wustl.edu 37 5 156917389 156917389 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 156917389 156917389 G T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known nonsense c.2175 p.C725* 0.982 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 128 0 0 126 10 7.35294 RNF145 0 genome.wustl.edu 37 5 158603680 158603680 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 158603680 158603680 G T SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.671 p.P224H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 35 0 0 49 5 9.25926 IL12B 0 genome.wustl.edu 37 5 158750309 158750309 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 158750309 158750309 C T SNP IL12B ENST00000231228 human ensembl 74_37 -1 known silent c.117 p.P39 0.074 pirsf_IL-12_beta,pfscan_Ig-like_dom pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 50 0 0 34 15 30.6122 FBXL7 0 genome.wustl.edu 37 5 15936669 15936669 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 15936669 15936669 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.850 p.V284M 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 71 0 0 53 6 10.1695 CCNJL 0 genome.wustl.edu 37 5 159680604 159680604 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 159680604 159680604 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.1089 p.A363 0.994 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 85 0 0 129 9 6.52174 ATP10B 0 genome.wustl.edu 37 5 160047495 160047495 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 160047495 160047495 T C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2275 p.S759G 0.988 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 63 0 0 61 12 16.4384 TENM2 0 genome.wustl.edu 37 5 167182154 167182154 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 167182154 167182154 G T SNP TENM2 ENST00000519204 human ensembl 74_37 +1 novel missense c.96 p.Q32H 0.001 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 276 0 0 231 117 33.6207 RARS 0 genome.wustl.edu 37 5 167937689 167937689 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 167937689 167937689 A G SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1450 p.K484E 1.000 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 20 0 0 15 15 50 SLIT3 0 genome.wustl.edu 37 5 168149277 168149277 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 168149277 168149277 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.2467 p.R823W 0.998 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 55 0 0 77 11 12.5 DOCK2 0 genome.wustl.edu 37 5 169508852 169508852 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 169508852 169508852 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5294 p.A1765V 0.845 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 46 0 0 63 21 25 FOXI1 0 genome.wustl.edu 37 5 169533425 169533425 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 169533425 169533425 A G SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.464 p.D155G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 61 0 0 64 5 7.24638 FOXI1 0 genome.wustl.edu 37 5 169533489 169533489 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 169533489 169533489 G A SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known silent c.528 p.S176 0.197 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 71 0 0 41 36 46.7532 GABRP 0 genome.wustl.edu 37 5 170232766 170232766 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 170232766 170232766 C T SNP GABRP ENST00000265294 human ensembl 74_37 +1 known silent c.588 p.N196 0.788 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 44 0 0 35 33 48.5294 GABRP 0 genome.wustl.edu 37 5 170232794 170232794 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 170232794 170232794 C T SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.616 p.R206W 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 52 0 0 74 4 5.12821 RANBP17 0 genome.wustl.edu 37 5 170725884 170725884 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 170725884 170725884 C T SNP RANBP17 ENST00000521759 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RANBP17 HGNC ENSG00000204764 25 0 0 12 15 55.5556 PLEKHG4B 0 genome.wustl.edu 37 5 171483 171483 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 171483 171483 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.2906 p.A969V 0.943 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 39 0 0 42 10 19.2308 UBTD2 0 genome.wustl.edu 37 5 171639009 171639009 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 171639009 171639009 A G SNP UBTD2 ENST00000393792 human ensembl 74_37 -1 known missense c.530 p.M177T 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC ENSG00000168246 137 0 0 92 95 50.8021 LOC101928093 0 genome.wustl.edu 37 5 172189446 172189446 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 172189446 172189446 C T SNP LOC101928093 ENST00000518941 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors RP11-779O18.1 Clone_based_vega_gene ENSG00000253295 56 0 0 40 45 52.9412 CREBRF 0 genome.wustl.edu 37 5 172550130 172550130 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 172550130 172550130 C T SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.1735 p.R579W 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 106 0 0 130 10 7.14286 CPEB4 0 genome.wustl.edu 37 5 173317326 173317326 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 173317326 173317326 C T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.590 p.A197V 0.892 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 87 0 0 91 10 9.90099 KIAA1191 0 genome.wustl.edu 37 5 175777655 175777655 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 175777655 175777655 G A SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known silent c.420 p.T140 0.863 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 96 0 0 119 24 16.7832 FAF2 0 genome.wustl.edu 37 5 175919205 175919205 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 175919205 175919205 C T SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known missense c.355 p.R119C 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 116 0 0 153 11 6.70732 FGFR4 0 genome.wustl.edu 37 5 176520159 176520159 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 176520159 176520159 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1078 p.A360T 0.937 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 36 0 0 43 10 18.8679 NSD1 0 genome.wustl.edu 37 5 176639130 176639130 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 176639130 176639130 A G SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.3730 p.I1244V 0.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 47 0 0 50 16 24.2424 NSD1 0 genome.wustl.edu 37 5 176722004 176722004 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 176722004 176722004 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.7635 p.K2545N 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 88 0 0 103 22 17.6 GRK6 0 genome.wustl.edu 37 5 176860644 176860644 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 176860644 176860644 G T SNP GRK6 ENST00000528793 human ensembl 74_37 +1 known missense c.705 p.K235N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 131 0 0 112 24 17.6471 RMND5B 0 genome.wustl.edu 37 5 177575020 177575020 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 177575020 177575020 G A SNP RMND5B ENST00000313386 human ensembl 74_37 +1 known missense c.1169 p.R390H 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 77 0 0 84 20 19.2308 CLK4 0 genome.wustl.edu 37 5 178039467 178039467 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 178039467 178039467 T C SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.1001 p.H334R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK4 HGNC ENSG00000113240 59 0 0 65 7 9.72222 GRM6 0 genome.wustl.edu 37 5 178413722 178413722 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 178413722 178413722 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1533 p.H511 0.000 prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 51 0 0 33 40 54.7945 SQSTM1 0 genome.wustl.edu 37 5 179260040 179260040 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 179260040 179260040 G A SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.763 p.V255I 1.000 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 86 0 0 57 18 24 C5orf45 0 genome.wustl.edu 37 5 179264410 179264410 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 179264410 179264410 T C SNP C5orf45 ENST00000292586 human ensembl 74_37 -1 known missense c.1013 p.D338G 1.000 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 254 0 0 251 16 5.99251 MRPL36 0 genome.wustl.edu 37 5 1798783 1798783 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 1798783 1798783 G A SNP MRPL36 ENST00000382647 human ensembl 74_37 -1 known silent c.267 p.Y89 0.009 pfam_Ribosomal_L36,superfamily_Ribosomal_L36,tigrfam_Ribosomal_L36 pfam_Ribosomal_L36,superfamily_Ribosomal_L36,tigrfam_Ribosomal_L36 - no_errors MRPL36 HGNC ENSG00000171421 58 0 0 38 20 34.4828 MRPL36 0 genome.wustl.edu 37 5 1798827 1798827 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 1798827 1798827 G A SNP MRPL36 ENST00000382647 human ensembl 74_37 -1 known missense c.223 p.R75C 1.000 pfam_Ribosomal_L36,superfamily_Ribosomal_L36,tigrfam_Ribosomal_L36 pfam_Ribosomal_L36,superfamily_Ribosomal_L36,tigrfam_Ribosomal_L36 - no_errors MRPL36 HGNC ENSG00000171421 74 0 0 65 6 8.4507 TRIM7 0 genome.wustl.edu 37 5 180622224 180622224 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 180622224 180622224 C T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known missense c.1478 p.R493H 0.689 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 42 0 0 42 6 12.5 CDH18 0 genome.wustl.edu 37 5 19473529 19473529 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 19473529 19473529 G T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.2179 p.P727T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 69 0 0 43 20 31.746 PRDM9 0 genome.wustl.edu 37 5 23527496 23527496 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 23527496 23527496 C T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known nonsense c.2299 p.Q767* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 211 0 0 151 15 9.03614 PDZD2 0 genome.wustl.edu 37 5 32098574 32098574 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 32098574 32098574 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.8052 p.H2684 0.138 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 37 0 0 49 10 16.9492 ZFR 0 genome.wustl.edu 37 5 32379276 32379276 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 32379276 32379276 C T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.2780 p.R927H 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 42 0 0 35 11 23.913 RXFP3 0 genome.wustl.edu 37 5 33937524 33937524 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 33937524 33937524 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known silent c.679 p.L227 0.357 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 35 0 0 27 11 28.9474 RXFP3 0 genome.wustl.edu 37 5 33937912 33937912 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 33937912 33937912 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1067 p.A356V 0.634 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 92 0 0 58 18 23.6842 LMBRD2 0 genome.wustl.edu 37 5 36142606 36142606 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 36142606 36142606 T C SNP LMBRD2 ENST00000296603 human ensembl 74_37 -1 known silent c.270 p.P90 0.812 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 56 0 0 41 13 24.0741 WDR70 0 genome.wustl.edu 37 5 37721216 37721216 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 37721216 37721216 G A SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known splice_site c.1417-1 e14-1 1.000 - - - no_errors WDR70 HGNC ENSG00000082068 112 0 0 71 5 6.57895 EGFLAM 0 genome.wustl.edu 37 5 38258936 38258936 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 38258936 38258936 C T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.80 p.A27V 0.003 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 24 0 0 18 5 21.7391 EGFLAM 0 genome.wustl.edu 37 5 38258945 38258945 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 38258945 38258945 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.89 p.R30Q 0.042 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 21 0 0 17 5 22.7273 OSMR 0 genome.wustl.edu 37 5 38925463 38925463 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 38925463 38925463 G A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known silent c.2202 p.P734 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 72 0 0 54 11 16.9231 FYB 0 genome.wustl.edu 37 5 39202427 39202427 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 39202427 39202427 G A SNP FYB ENST00000540520 human ensembl 74_37 -1 known silent c.666 p.D222 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 98 0 0 59 21 26.25 EXOC3 0 genome.wustl.edu 37 5 447798 447798 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 447798 447798 G A SNP EXOC3 ENST00000315013 human ensembl 74_37 +1 known missense c.295 p.V99I 1.000 NULL pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 14 0 0 13 2 13.3333 SLC9A3 0 genome.wustl.edu 37 5 476160 476160 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 476160 476160 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.2115 p.A705 0.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 28 0 0 24 11 31.4286 HSPB3 0 genome.wustl.edu 37 5 53751767 53751767 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 53751767 53751767 G A SNP HSPB3 ENST00000302005 human ensembl 74_37 +1 known missense c.148 p.A50T 0.003 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB3 HGNC ENSG00000169271 88 0 0 56 11 16.4179 DHX29 0 genome.wustl.edu 37 5 54585098 54585098 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 54585098 54585098 C A SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.1066 p.D356Y 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 8 0 0 14 4 22.2222 DDX4 0 genome.wustl.edu 37 5 55081584 55081584 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 55081584 55081584 C A SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.749 p.P250H 0.989 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 53 0 0 31 9 22.5 C5orf64 0 genome.wustl.edu 37 5 60982782 60982782 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 60982782 60982782 G A SNP C5orf64 ENST00000313303 human ensembl 74_37 +1 known missense c.110 p.R37H 0.000 NULL NULL - no_errors C5orf64 HGNC ENSG00000178722 117 1 0.847458 88 10 10.2041 HTR1A 0 genome.wustl.edu 37 5 63256965 63256965 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 63256965 63256965 G T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.582 p.G194 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 264 0 0 220 72 24.6575 RNF180 0 genome.wustl.edu 37 5 63509748 63509748 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 63509748 63509748 C T SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known silent c.595 p.L199 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 52 0 0 38 21 35.5932 SGTB 0 genome.wustl.edu 37 5 64976614 64976614 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 64976614 64976614 G T SNP SGTB ENST00000381007 human ensembl 74_37 -1 known missense c.487 p.L163I 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 34 0 0 24 7 22.5806 SREK1 0 genome.wustl.edu 37 5 65458074 65458074 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 65458074 65458074 G A SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known silent c.549 p.T183 0.908 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 47 0 0 30 15 33.3333 NSUN2 0 genome.wustl.edu 37 5 6600055 6600055 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 6600055 6600055 A G SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.2288 p.V763A 0.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 132 0 0 130 23 15.0327 MAST4 0 genome.wustl.edu 37 5 66448644 66448644 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 66448644 66448644 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.3484 p.R1162W 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 63 0 0 55 18 24.6575 MAST4 0 genome.wustl.edu 37 5 66461066 66461066 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 66461066 66461066 G T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.6068 p.R2023M 0.005 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 27 0 0 18 3 14.2857 PAPD7 0 genome.wustl.edu 37 5 6754921 6754921 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 6754921 6754921 G A SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1492 p.G498S 0.157 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 56 0 0 38 8 17.3913 OCLN 0 genome.wustl.edu 37 5 68805099 68805099 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 68805099 68805099 C A SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.182 p.P61H 1.000 pfam_Marvel,pirsf_Occludin,prints_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 144 0 0 130 8 5.7971 BDP1 0 genome.wustl.edu 37 5 70806644 70806644 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 70806644 70806644 C T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.3725 p.A1242V 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 139 0 0 100 51 33.7748 ZNF366 0 genome.wustl.edu 37 5 71757207 71757207 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 71757207 71757207 G T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known silent c.117 p.P39 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 57 0 0 32 12 27.2727 TNPO1 0 genome.wustl.edu 37 5 72178958 72178958 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 72178958 72178958 C T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1049 p.S350L 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 69 0 0 70 6 7.89474 ENC1 0 genome.wustl.edu 37 5 73932218 73932218 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 73932218 73932218 G A SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known silent c.93 p.S31 0.405 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 28 0 0 23 15 39.4737 NSA2 0 genome.wustl.edu 37 5 74066523 74066523 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 74066523 74066523 G A SNP NSA2 ENST00000296802 human ensembl 74_37 +1 known missense c.410 p.R137Q 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 76 0 0 48 18 27.2727 POLK 0 genome.wustl.edu 37 5 74889775 74889775 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 74889775 74889775 G A SNP POLK ENST00000241436 human ensembl 74_37 +1 known missense c.1429 p.V477I 0.934 pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 54 0 0 32 16 33.3333 IQGAP2 0 genome.wustl.edu 37 5 75989261 75989261 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 75989261 75989261 G A SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known silent c.3987 p.A1329 0.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 36 0 0 38 18 32.1429 PDE8B 0 genome.wustl.edu 37 5 76717790 76717790 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 76717790 76717790 A G SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.2395 p.I799V 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 32 0 0 32 7 17.9487 C5orf49 0 genome.wustl.edu 37 5 7851036 7851036 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 7851036 7851036 C T SNP C5orf49 ENST00000399810 human ensembl 74_37 -1 known silent c.99 p.P33 0.996 NULL NULL - no_errors C5orf49 HGNC ENSG00000215217 12 0 0 11 7 38.8889 FASTKD3 0 genome.wustl.edu 37 5 7867447 7867447 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 7867447 7867447 T C SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known silent c.750 p.T250 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 76 0 0 65 12 15.5844 MTRR 0 genome.wustl.edu 37 5 7873565 7873565 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 7873565 7873565 G A SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.290 p.R97H 0.992 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 105 0 0 78 38 32.7586 MTRR 0 genome.wustl.edu 37 5 7883316 7883316 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 7883316 7883316 C T SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.910 p.P304S 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 48 0 0 26 14 35 THBS4 0 genome.wustl.edu 37 5 79355648 79355648 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 79355648 79355648 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.907 p.D303N 0.651 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 211 0 0 187 25 11.7925 ZFYVE16 0 genome.wustl.edu 37 5 79733418 79733418 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 79733418 79733418 G A SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.914 p.S305N 0.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 53 0 0 51 10 16.3934 VCAN 0 genome.wustl.edu 37 5 82834123 82834123 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 82834123 82834123 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.5301 p.S1767 0.027 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 97 0 0 78 6 7.14286 GPR98 0 genome.wustl.edu 37 5 89981753 89981753 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 89981753 89981753 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.6431 p.G2144V 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 35 0 0 22 4 15.3846 SEMA5A 0 genome.wustl.edu 37 5 9054201 9054201 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 9054201 9054201 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2687 p.P896L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 57 0 0 63 4 5.97015 TTC37 0 genome.wustl.edu 37 5 94820498 94820498 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 94820498 94820498 G T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.3983 p.S1328Y 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 43 0 0 39 8 17.0213 GLRX 0 genome.wustl.edu 37 5 95158219 95158219 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 95158219 95158219 C T SNP GLRX ENST00000237858 human ensembl 74_37 -1 known missense c.148 p.A50T 0.863 pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,tigrfam_Glutaredoxin_euk/vir pfam_Glutaredoxin,pfam_Glutaredoxin-like,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX HGNC ENSG00000173221 113 0 0 84 23 21.4953 RIOK2 0 genome.wustl.edu 37 5 96498868 96498868 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 96498868 96498868 C T SNP RIOK2 ENST00000283109 human ensembl 74_37 -1 known missense c.1556 p.R519H 1.000 NULL pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 43 0 0 29 4 12.1212 SIM1 0 genome.wustl.edu 37 6 100896023 100896023 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 100896023 100896023 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.849 p.L283 0.996 pfam_PAS_fold_3,superfamily_PAS,smart_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 33 0 0 31 15 32.6087 ASCC3 0 genome.wustl.edu 37 6 100957932 100957932 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 100957932 100957932 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.6337 p.E2113K 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 220 0 0 151 50 24.8756 MAK 0 genome.wustl.edu 37 6 10792006 10792006 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 10792006 10792006 G T SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1218 p.S406R 0.414 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 59 0 0 29 15 34.0909 ZNF259P1 0 genome.wustl.edu 37 6 109107356 109107356 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 109107356 109107356 T C SNP ZNF259P1 ENST00000572422 human ensembl 74_37 -1 known rna NULL NULL 0.271 - - - no_errors ZNF259P1 HGNC ENSG00000219565 31 0 0 35 7 16.6667 MICAL1 0 genome.wustl.edu 37 6 109772894 109772894 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 109772894 109772894 A C SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.899 p.L300R 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 73 0 0 69 6 8 FIG4 0 genome.wustl.edu 37 6 110083385 110083385 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 110083385 110083385 T C SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.1363 p.C455R 1.000 pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 33 0 0 27 6 18.1818 CDC40 0 genome.wustl.edu 37 6 110540593 110540593 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 110540593 110540593 C T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known nonsense c.1117 p.R373* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 56 0 0 41 5 10.8696 CDK19 0 genome.wustl.edu 37 6 110991683 110991683 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 110991683 110991683 C T SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known missense c.266 p.S89N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK19 HGNC ENSG00000155111 41 0 0 43 10 18.8679 REV3L 0 genome.wustl.edu 37 6 111701367 111701367 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 111701367 111701367 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.1272 p.D424 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 70 0 0 57 5 8.06452 WISP3 0 genome.wustl.edu 37 6 112385971 112385971 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 112385971 112385971 T C SNP WISP3 ENST00000361714 human ensembl 74_37 +1 known silent c.414 p.V138 0.996 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 76 0 0 95 19 16.6667 LAMA4 0 genome.wustl.edu 37 6 112462050 112462050 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 112462050 112462050 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.2888 p.K963R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 51 0 0 44 5 10.2041 LAMA4 0 genome.wustl.edu 37 6 112508695 112508695 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 112508695 112508695 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.923 p.H308R 0.878 pfam_Laminin_I pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 74 0 0 71 7 8.97436 TSPYL1 0 genome.wustl.edu 37 6 116599992 116599992 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 116599992 116599992 C T SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known silent c.1002 p.K334 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 121 0 0 90 31 25.6198 RSPH4A 0 genome.wustl.edu 37 6 116949323 116949323 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 116949323 116949323 C T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known nonsense c.1453 p.R485* 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 59 0 0 45 16 26.2295 VGLL2 0 genome.wustl.edu 37 6 117591786 117591786 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 117591786 117591786 C A SNP VGLL2 ENST00000326274 human ensembl 74_37 +1 known missense c.472 p.L158M 0.875 NULL pfam_Vg_Tdu - no_errors VGLL2 HGNC ENSG00000170162 8 0 0 13 6 31.5789 ROS1 0 genome.wustl.edu 37 6 117662566 117662566 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 117662566 117662566 T C SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.4899 p.L1633 0.993 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 82 0 0 61 5 7.57576 FAM184A 0 genome.wustl.edu 37 6 119300538 119300538 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 119300538 119300538 G T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.2447 p.A816D 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 48 0 0 32 12 27.2727 HIVEP1 0 genome.wustl.edu 37 6 12121739 12121739 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 12121739 12121739 T C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.1711 p.S571P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 46 0 0 55 8 12.6984 HIVEP1 0 genome.wustl.edu 37 6 12122061 12122061 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 12122061 12122061 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2033 p.R678H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 58 0 0 59 7 10.6061 KIAA0408 0 genome.wustl.edu 37 6 127775049 127775049 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 127775049 127775049 G A SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel silent c.78 p.D26 0.995 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 78 0 0 57 25 30.4878 CTAGE9 0 genome.wustl.edu 37 6 132031693 132031693 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 132031693 132031693 T G SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known missense c.465 p.E155D 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 55 0 0 38 13 25.4902 SLC18B1 0 genome.wustl.edu 37 6 133097497 133097497 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 133097497 133097497 T C SNP SLC18B1 ENST00000367918 human ensembl 74_37 -1 known missense c.304 p.T102A 0.941 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC18B1 HGNC ENSG00000146409 45 0 0 38 13 25.4902 TCF21 0 genome.wustl.edu 37 6 134210812 134210812 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 134210812 134210812 C T SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known nonsense c.277 p.R93* 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 115 0 0 87 31 26.2712 MAP3K5 0 genome.wustl.edu 37 6 136904865 136904865 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 136904865 136904865 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.3239 p.P1080L 0.900 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 68 0 0 39 15 27.7778 OLIG3 0 genome.wustl.edu 37 6 137814991 137814991 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 137814991 137814991 A C SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.317 p.L106R 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 125 0 0 96 8 7.69231 OLIG3 0 genome.wustl.edu 37 6 137815186 137815186 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 137815186 137815186 G A SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.122 p.S41L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 136 0 0 109 31 22.1429 KIAA1244 0 genome.wustl.edu 37 6 138491847 138491847 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 138491847 138491847 T C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.134 p.L45P 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 32 0 0 20 11 35.4839 HIVEP2 0 genome.wustl.edu 37 6 143092525 143092525 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 143092525 143092525 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.3351 p.S1117 0.275 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 92 0 0 78 13 14.2857 STX11 0 genome.wustl.edu 37 6 144508363 144508363 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 144508363 144508363 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.599 p.A200V 1.000 superfamily_t-SNARE,smart_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 91 0 0 61 13 17.5676 FBXO30 0 genome.wustl.edu 37 6 146125877 146125877 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 146125877 146125877 G A SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known silent c.1665 p.C555 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 102 0 0 47 34 41.9753 AKAP12 0 genome.wustl.edu 37 6 151672364 151672364 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 151672364 151672364 A G SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.2838 p.E946 0.005 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 117 0 0 97 10 9.34579 ZBTB2 0 genome.wustl.edu 37 6 151687265 151687265 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 151687265 151687265 G A SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known silent c.936 p.A312 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 129 0 0 91 30 24.7934 SYNE1 0 genome.wustl.edu 37 6 152734582 152734582 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 152734582 152734582 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.6135 p.I2045 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 86 0 0 56 28 33.3333 SYNE1 0 genome.wustl.edu 37 6 152832706 152832706 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 152832706 152832706 C T SNP SYNE1 ENST00000423061 human ensembl 74_37 -1 known silent c.330 p.P110 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 41 0 0 25 6 19.3548 OPRM1 0 genome.wustl.edu 37 6 154360691 154360691 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 154360691 154360691 C T SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known silent c.291 p.S97 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 14 0 0 18 7 28 OPRM1 0 genome.wustl.edu 37 6 154412376 154412376 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 154412376 154412376 A G SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known silent c.1212 p.P404 0.994 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 89 0 0 69 4 5.47945 CNKSR3 0 genome.wustl.edu 37 6 154743677 154743677 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 154743677 154743677 G T SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known missense c.908 p.P303H 1.000 superfamily_PDZ pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 117 0 0 112 6 5.08475 SNX9 0 genome.wustl.edu 37 6 158342683 158342683 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 158342683 158342683 G T SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known missense c.1070 p.R357L 0.886 superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 39 0 0 26 6 18.75 TULP4 0 genome.wustl.edu 37 6 158834166 158834166 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 158834166 158834166 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.322 p.V108M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 45 0 0 30 8 21.0526 TCP1 0 genome.wustl.edu 37 6 160208881 160208881 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 160208881 160208881 C T SNP TCP1 ENST00000321394 human ensembl 74_37 -1 known missense c.173 p.G58D 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha - no_errors TCP1 HGNC ENSG00000120438 64 0 0 49 6 10.9091 IGF2R 0 genome.wustl.edu 37 6 160412301 160412301 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 160412301 160412301 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.235 p.P79S 0.011 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 46 0 0 36 6 14.2857 IGF2R 0 genome.wustl.edu 37 6 160517598 160517598 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 160517598 160517598 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.6783 p.H2261 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 115 0 0 94 5 5.05051 MAP3K4 0 genome.wustl.edu 37 6 161470941 161470941 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 161470941 161470941 T G SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.1637 p.L546R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 56 0 0 59 18 23.3766 PACRG 0 genome.wustl.edu 37 6 163149367 163149367 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 163149367 163149367 C T SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.100 p.P34S 1.000 NULL pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 179 0 0 118 47 28.4848 ATXN1 0 genome.wustl.edu 37 6 16327894 16327894 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 16327894 16327894 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.648 p.Q216H 0.008 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 15 0 0 22 4 15.3846 ATXN1 0 genome.wustl.edu 37 6 16328200 16328200 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 16328200 16328200 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.342 p.P114 0.025 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 107 0 0 86 35 28.9256 PDE10A 0 genome.wustl.edu 37 6 165844917 165844917 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 165844917 165844917 T C SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.737 p.Q246R 1.000 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 130 0 0 67 33 33 SFT2D1 0 genome.wustl.edu 37 6 166739499 166739499 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 166739499 166739499 C A SNP SFT2D1 ENST00000494682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SFT2D1 HGNC ENSG00000198818 11 0 0 9 5 35.7143 TBP 0 genome.wustl.edu 37 6 170871016 170871016 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 170871016 170871016 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.192 p.Q64 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 77 0 0 69 15 17.8571 PDCD2 0 genome.wustl.edu 37 6 170892241 170892241 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 170892241 170892241 G T SNP PDCD2 ENST00000541970 human ensembl 74_37 -1 known missense c.562 p.L188I 1.000 NULL pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND - no_errors PDCD2 HGNC ENSG00000071994 53 0 0 44 3 6.38298 KIF13A 0 genome.wustl.edu 37 6 17773734 17773734 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 17773734 17773734 C A SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.4299 p.R1433S 0.998 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 65 0 0 30 12 28.5714 FAM65B 0 genome.wustl.edu 37 6 24843728 24843728 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 24843728 24843728 G A SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1282 p.P428S 0.998 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 34 0 0 37 8 17.7778 HIST1H1E 0 genome.wustl.edu 37 6 26157216 26157216 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 26157216 26157216 A G SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.598 p.K200E 0.993 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 65 0 0 44 10 18.5185 ZNF391 0 genome.wustl.edu 37 6 27369041 27369041 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 27369041 27369041 A G SNP ZNF391 ENST00000244576 human ensembl 74_37 +1 known missense c.892 p.I298V 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ENSG00000124613 53 0 0 46 4 8 HIST1H2AM 0 genome.wustl.edu 37 6 27860579 27860579 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 27860579 27860579 G A SNP HIST1H2AM ENST00000359611 human ensembl 74_37 -1 known missense c.349 p.L117F 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 127 0 0 124 10 7.46269 ZNF311 0 genome.wustl.edu 37 6 28967739 28967739 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 28967739 28967739 C A SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.177 p.Q59H 0.238 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF311 HGNC ENSG00000197935 25 0 0 12 8 40 MDC1 0 genome.wustl.edu 37 6 30675204 30675204 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 30675204 30675204 G A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.3041 p.A1014V 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 86 0 0 76 15 16.4835 MDC1 0 genome.wustl.edu 37 6 30679786 30679786 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 30679786 30679786 G T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.1933 p.L645I 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 65 0 0 64 11 14.6667 MDC1 0 genome.wustl.edu 37 6 30681028 30681028 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 30681028 30681028 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.691 p.E231K 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 103 0 0 62 43 40.9524 GTF2H4 0 genome.wustl.edu 37 6 30881608 30881608 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 30881608 30881608 C A SNP GTF2H4 ENST00000259895 human ensembl 74_37 +1 known missense c.1237 p.L413M 1.000 tigrfam_TFIIH_p52/Tfb2 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 23 0 0 17 12 41.3793 RIPK1 0 genome.wustl.edu 37 6 3105859 3105859 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 3105859 3105859 T C SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known missense c.1150 p.Y384H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 105 0 0 59 25 29.7619 HLA-B 0 genome.wustl.edu 37 6 31323216 31323216 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31323216 31323216 C T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.773 p.R258K 0.999 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 111 0 0 75 32 29.9065 GPANK1 0 genome.wustl.edu 37 6 31630318 31630318 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31630318 31630318 C A SNP GPANK1 ENST00000375893 human ensembl 74_37 -1 known missense c.796 p.G266W 0.020 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 34 0 0 32 19 37.2549 CSNK2B 0 genome.wustl.edu 37 6 31636368 31636368 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31636368 31636368 C T SNP CSNK2B ENST00000375865 human ensembl 74_37 +1 known silent c.228 p.A76 0.006 pfam_Casein_kinase_II_reg-sub,superfamily_Casein_kinase_II_reg-sub pfam_Casein_kinase_II_reg-sub,superfamily_Casein_kinase_II_reg-sub,prints_Casein_kinase_II_reg-sub - no_errors CSNK2B HGNC ENSG00000204435 124 0 0 65 22 25.2874 ABHD16A 0 genome.wustl.edu 37 6 31660761 31660761 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31660761 31660761 G A SNP ABHD16A ENST00000538874 human ensembl 74_37 -1 known missense c.374 p.A125V 0.019 NULL NULL - no_errors ABHD16A HGNC ENSG00000204427 102 0 0 73 22 23.1579 VARS 0 genome.wustl.edu 37 6 31753385 31753385 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31753385 31753385 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.1226 p.R409H 0.995 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 41 0 0 21 17 44.7368 NELFE 0 genome.wustl.edu 37 6 31924499 31924499 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31924499 31924499 G A SNP NELFE ENST00000375429 human ensembl 74_37 -1 known missense c.262 p.R88C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 101 0 0 58 22 27.5 TNXB 0 genome.wustl.edu 37 6 32036449 32036449 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 32036449 32036449 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5938 p.A1980T 0.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 81 0 0 77 11 12.5 TNXB 0 genome.wustl.edu 37 6 32064222 32064222 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 32064222 32064222 A C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.1408 p.C470G 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 23 0 0 28 3 9.67742 PBX2 0 genome.wustl.edu 37 6 32156206 32156206 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 32156206 32156206 G A SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.371 p.A124V 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 79 0 0 87 6 6.45161 GPSM3 0 genome.wustl.edu 37 6 32159258 32159258 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 32159258 32159258 C A SNP GPSM3 ENST00000375040 human ensembl 74_37 -1 known missense c.368 p.R123L 1.000 pfam_GoLoco_motif,smart_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 92 0 0 63 26 29.2135 SCUBE3 0 genome.wustl.edu 37 6 35195381 35195381 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 35195381 35195381 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.110 p.T37I 0.999 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 77 0 0 43 21 32.8125 BRPF3 0 genome.wustl.edu 37 6 36169331 36169331 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 36169331 36169331 A G SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.1232 p.E411G 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 50 0 0 29 3 9.375 CDKN1A 0 genome.wustl.edu 37 6 36652093 36652093 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 36652093 36652093 G A SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.317 p.G106D 0.730 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 49 0 0 54 14 20.5882 PPIL1 0 genome.wustl.edu 37 6 36823635 36823635 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 36823635 36823635 C T SNP PPIL1 ENST00000373699 human ensembl 74_37 -1 known missense c.455 p.R152H 0.999 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL1 HGNC ENSG00000137168 84 0 0 76 20 20.8333 PIM1 0 genome.wustl.edu 37 6 37140782 37140782 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 37140782 37140782 G A SNP PIM1 ENST00000373509 human ensembl 74_37 +1 known silent c.618 p.V206 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM1 HGNC ENSG00000137193 99 0 0 83 14 14.433 BTBD9 0 genome.wustl.edu 37 6 38565763 38565763 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 38565763 38565763 G A SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known silent c.108 p.G36 0.716 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 76 0 0 59 24 28.9157 DNAH8 0 genome.wustl.edu 37 6 38831703 38831703 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 38831703 38831703 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5714 p.L1905S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 59 0 0 38 25 39.6825 DAAM2 0 genome.wustl.edu 37 6 39835331 39835331 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 39835331 39835331 A G SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known silent c.474 p.L158 0.999 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 136 0 0 90 15 14.2857 DAAM2 0 genome.wustl.edu 37 6 39847122 39847122 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 39847122 39847122 C A SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.1714 p.P572T 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 31 0 0 38 10 20.8333 UNC5CL 0 genome.wustl.edu 37 6 41000848 41000848 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 41000848 41000848 C T SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.724 p.E242K 0.000 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 25 0 0 19 12 38.7097 NCR2 0 genome.wustl.edu 37 6 41309756 41309756 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 41309756 41309756 T C SNP NCR2 ENST00000373086 human ensembl 74_37 +1 known silent c.549 p.P183 0.005 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 132 0 0 104 9 7.9646 GNMT 0 genome.wustl.edu 37 6 42931117 42931117 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 42931117 42931117 G A SNP GNMT ENST00000372808 human ensembl 74_37 +1 known missense c.646 p.A216T 1.000 pirsf_Gly/Sar_N_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase - no_errors GNMT HGNC ENSG00000124713 34 0 0 24 13 35.1351 CUL7 0 genome.wustl.edu 37 6 43010844 43010844 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43010844 43010844 T C SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.3682 p.T1228A 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 76 0 0 44 9 16.9811 CUL7 0 genome.wustl.edu 37 6 43013343 43013343 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43013343 43013343 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.3096 p.R1032 0.999 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 83 0 0 49 14 22.2222 CUL9 0 genome.wustl.edu 37 6 43160803 43160803 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43160803 43160803 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2245 p.V749M 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 162 0 0 128 53 29.2818 CUL9 0 genome.wustl.edu 37 6 43164510 43164510 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43164510 43164510 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2713 p.P905S 0.972 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 102 0 0 86 5 5.49451 CUL9 0 genome.wustl.edu 37 6 43174137 43174137 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43174137 43174137 T C SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.5101 p.S1701P 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 91 0 0 39 25 39.0625 TTBK1 0 genome.wustl.edu 37 6 43250478 43250478 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43250478 43250478 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.2000 p.A667V 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 151 0 0 104 42 28.7671 TTBK1 0 genome.wustl.edu 37 6 43252036 43252036 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43252036 43252036 A G SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.3558 p.T1186 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 28 0 0 21 4 16 SLC22A7 0 genome.wustl.edu 37 6 43271885 43271885 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43271885 43271885 G A SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.1495 p.G499R 0.998 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 82 0 0 96 6 5.88235 ZNF318 0 genome.wustl.edu 37 6 43322761 43322761 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43322761 43322761 C T SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.2311 p.A771T 0.998 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 99 0 0 84 25 22.9358 ABCC10 0 genome.wustl.edu 37 6 43400685 43400685 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43400685 43400685 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.967 p.G323S 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 75 0 0 57 24 29.6296 ABCC10 0 genome.wustl.edu 37 6 43413629 43413629 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 43413629 43413629 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.3323 p.A1108V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 68 0 0 71 6 7.79221 HSP90AB1 0 genome.wustl.edu 37 6 44218839 44218839 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 44218839 44218839 C T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1012 p.R338W 1.000 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 HSP90AB1 HGNC ENSG00000096384 143 0 0 85 41 32.5397 RUNX2 0 genome.wustl.edu 37 6 45514719 45514719 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 45514719 45514719 A G SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.1447 p.T483A 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 99 0 0 56 21 27.2727 CDYL 0 genome.wustl.edu 37 6 4892385 4892385 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 4892385 4892385 G T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.625 p.V209L 0.989 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 69 0 0 58 5 7.93651 TFAP2B 0 genome.wustl.edu 37 6 50791415 50791415 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 50791415 50791415 G A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.404 p.R135Q 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 30 0 0 17 13 43.3333 PKHD1 0 genome.wustl.edu 37 6 51613383 51613383 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 51613383 51613383 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.9031 p.A3011T 0.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 85 0 0 73 5 6.41026 PKHD1 0 genome.wustl.edu 37 6 51735403 51735403 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 51735403 51735403 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.7385 p.P2462H 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 45 0 0 50 5 9.09091 DST 0 genome.wustl.edu 37 6 56505071 56505071 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 56505071 56505071 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.2261 p.L754S 0.959 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 69 0 0 69 6 8 DST 0 genome.wustl.edu 37 6 56507537 56507537 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 56507537 56507537 T C SNP DST ENST00000446842 human ensembl 74_37 -1 known missense c.50 p.N17S 1.000 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 76 0 0 67 5 6.94444 PHF3 0 genome.wustl.edu 37 6 64410295 64410295 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 64410295 64410295 T C SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.3038 p.M1013T 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 34 0 0 26 15 36.5854 COL9A1 0 genome.wustl.edu 37 6 70942395 70942395 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 70942395 70942395 A G SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known silent c.2394 p.P798 0.062 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 67 0 0 39 19 32.7586 FAM135A 0 genome.wustl.edu 37 6 71236346 71236346 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 71236346 71236346 A G SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3559 p.N1187D 0.937 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 58 0 0 62 7 10.1449 RREB1 0 genome.wustl.edu 37 6 7211914 7211914 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7211914 7211914 A G SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.679 p.M227V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 80 0 0 41 15 26.7857 RREB1 0 genome.wustl.edu 37 6 7229398 7229398 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7229398 7229398 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.1066 p.D356N 0.788 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 40 0 0 24 10 29.4118 RREB1 0 genome.wustl.edu 37 6 7230308 7230308 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7230308 7230308 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.1976 p.R659H 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 73 0 0 37 24 39.3443 KCNQ5 0 genome.wustl.edu 37 6 73332154 73332154 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 73332154 73332154 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.237 p.R79 0.997 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 8 0 0 7 3 30 CAGE1 0 genome.wustl.edu 37 6 7370300 7370300 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7370300 7370300 T C SNP CAGE1 ENST00000338150 human ensembl 74_37 -1 known splice_site c.1747-2 e5-2 0.962 - - - no_errors CAGE1 HGNC ENSG00000164304 27 0 0 24 4 14.2857 DSP 0 genome.wustl.edu 37 6 7583974 7583974 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7583974 7583974 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.6479 p.R2160Q 0.988 pfam_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 90 0 0 51 18 26.087 DSP 0 genome.wustl.edu 37 6 7584598 7584598 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7584598 7584598 T C SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.7103 p.L2368S 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 93 0 0 65 16 19.7531 DSP 0 genome.wustl.edu 37 6 7585991 7585991 + Silent SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 7585991 7585991 A T SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.8496 p.G2832 0.530 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 142 0 0 143 8 5.29801 FILIP1 0 genome.wustl.edu 37 6 76124616 76124616 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 76124616 76124616 C T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.73 p.G25S 0.276 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 121 0 0 95 7 6.86275 TTK 0 genome.wustl.edu 37 6 80721602 80721602 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 80721602 80721602 G A SNP TTK ENST00000369798 human ensembl 74_37 +1 known splice_site c.802-1 e7-1 1.000 - - - no_errors TTK HGNC ENSG00000112742 38 0 0 47 7 12.963 PGM3 0 genome.wustl.edu 37 6 83900647 83900647 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 83900647 83900647 G A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known nonsense c.85 p.R29* 1.000 pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 78 0 0 52 8 13.3333 RWDD2A 0 genome.wustl.edu 37 6 83905457 83905457 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 83905457 83905457 A G SNP RWDD2A ENST00000369724 human ensembl 74_37 +1 known silent c.345 p.P115 0.788 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 100 0 0 54 19 26.0274 KIAA1009 0 genome.wustl.edu 37 6 84862601 84862601 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 84862601 84862601 T C SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.3292 p.K1098E 0.052 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 32 0 0 20 5 20 KIAA1009 0 genome.wustl.edu 37 6 84862646 84862646 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 84862646 84862646 C T SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.3247 p.A1083T 0.678 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 39 0 0 28 13 31.7073 SNX14 0 genome.wustl.edu 37 6 86223788 86223788 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 86223788 86223788 C A SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.2557 p.D853Y 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 39 0 0 38 12 24 SYNCRIP 0 genome.wustl.edu 37 6 86329093 86329093 + Nonsense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 86329093 86329093 C A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known nonsense c.1051 p.E351* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 46 0 0 36 9 20 ZNF292 0 genome.wustl.edu 37 6 87965428 87965428 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 87965428 87965428 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.2081 p.Y694C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 27 0 0 26 3 10.3448 CNR1 0 genome.wustl.edu 37 6 88853738 88853738 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 88853738 88853738 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.1256 p.A419V 0.807 pirsf_Canbinoid_rcpt_1,prints_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 137 0 0 101 29 22.3077 CNR1 0 genome.wustl.edu 37 6 88853864 88853864 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 88853864 88853864 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.1130 p.T377M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 87 0 0 60 20 25 GABRR2 0 genome.wustl.edu 37 6 90009487 90009487 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 90009487 90009487 C T SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.286 p.A96T 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 58 0 0 31 10 24.3902 ANKRD6 0 genome.wustl.edu 37 6 90276717 90276717 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 90276717 90276717 G A SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known missense c.22 p.A8T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 16 0 0 7 6 46.1538 MDN1 0 genome.wustl.edu 37 6 90452930 90452930 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 90452930 90452930 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4387 p.G1463S 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 90 0 0 58 10 14.7059 MANEA 0 genome.wustl.edu 37 6 96054112 96054112 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 96054112 96054112 A C SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.1220 p.E407A 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 62 0 0 59 6 9.23077 MEPCE 0 genome.wustl.edu 37 7 100029155 100029155 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100029155 100029155 A G SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known missense c.1514 p.D505G 0.003 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 67 0 0 71 5 6.57895 GIGYF1 0 genome.wustl.edu 37 7 100284395 100284395 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100284395 100284395 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.571 p.A191T 0.973 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 54 0 0 39 17 30.3571 GIGYF1 0 genome.wustl.edu 37 7 100285731 100285731 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100285731 100285731 A G SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.38 p.L13P 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 113 0 0 101 35 25.7353 SLC12A9 0 genome.wustl.edu 37 7 100454755 100454755 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100454755 100454755 C G SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.714 p.H238Q 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 198 0 0 184 44 19.2982 MUC17 0 genome.wustl.edu 37 7 100683678 100683678 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100683678 100683678 T A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8981 p.V2994D 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 550 0 0 505 39 7.16912 MUC17 0 genome.wustl.edu 37 7 100686959 100686959 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100686959 100686959 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12262 p.A4088T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 137 0 0 113 47 29.375 TRIM56 0 genome.wustl.edu 37 7 100731740 100731740 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100731740 100731740 G A SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.1147 p.G383R 0.003 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 33 0 0 58 4 6.45161 SERPINE1 0 genome.wustl.edu 37 7 100775298 100775298 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100775298 100775298 C T SNP SERPINE1 ENST00000223095 human ensembl 74_37 +1 known silent c.648 p.D216 0.454 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE1 HGNC ENSG00000106366 250 0 0 216 55 20.2952 AP1S1 0 genome.wustl.edu 37 7 100802359 100802359 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100802359 100802359 T C SNP AP1S1 ENST00000337619 human ensembl 74_37 +1 known missense c.311 p.I104T 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 65 0 0 73 14 16.092 RABL5 0 genome.wustl.edu 37 7 100964993 100964993 + RNA SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100964993 100964993 T C SNP RABL5 ENST00000495166 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RABL5 HGNC ENSG00000128581 17 0 0 9 2 18.1818 LRWD1 0 genome.wustl.edu 37 7 102108614 102108614 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 102108614 102108614 G A SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.784 p.A262T 0.004 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 22 0 0 29 5 14.7059 LRWD1 0 genome.wustl.edu 37 7 102113048 102113048 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 102113048 102113048 C T SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 32 0 0 24 11 31.4286 CYP2W1 0 genome.wustl.edu 37 7 1026412 1026412 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 1026412 1026412 C T SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known silent c.798 p.D266 0.105 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 22 0 0 17 6 26.087 DNAJC2 0 genome.wustl.edu 37 7 102962507 102962507 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 102962507 102962507 C A SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.955 p.A319S 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 31 0 0 34 16 32 RELN 0 genome.wustl.edu 37 7 103137062 103137062 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 103137062 103137062 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9104 p.G3035V 0.982 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 84 0 0 75 16 17.5824 RINT1 0 genome.wustl.edu 37 7 105187419 105187419 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 105187419 105187419 C A SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.578 p.S193Y 0.158 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 63 0 0 54 17 23.9437 RINT1 0 genome.wustl.edu 37 7 105190859 105190859 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 105190859 105190859 G A SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.1259 p.G420D 0.185 pfam_RINT1_TIP1 pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 174 0 0 156 28 15.2174 PIK3CG 0 genome.wustl.edu 37 7 106508571 106508571 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 106508571 106508571 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.565 p.A189T 0.771 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 96 0 0 82 13 13.6842 LAMB1 0 genome.wustl.edu 37 7 107596053 107596053 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 107596053 107596053 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.2713 p.D905N 0.955 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 45 0 0 50 13 20.6349 DOCK4 0 genome.wustl.edu 37 7 111372307 111372307 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 111372307 111372307 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5456 p.S1819L 0.997 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 51 0 0 44 11 20 TMEM168 0 genome.wustl.edu 37 7 112424781 112424781 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 112424781 112424781 G A SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.100 p.R34W 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 20 0 0 25 3 10.7143 C7orf60 0 genome.wustl.edu 37 7 112555465 112555465 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 112555465 112555465 C A SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known missense c.198 p.E66D 0.988 NULL pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 48 0 0 51 4 7.27273 CTTNBP2 0 genome.wustl.edu 37 7 117432590 117432590 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 117432590 117432590 G C SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.660 p.S220R 0.579 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 31 0 0 62 8 11.4286 CTTNBP2 0 genome.wustl.edu 37 7 117450890 117450890 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 117450890 117450890 T C SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.343 p.M115V 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 163 0 0 151 36 19.2513 ANKRD7 0 genome.wustl.edu 37 7 117876853 117876853 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 117876853 117876853 T C SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known silent c.645 p.L215 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 102 0 0 105 9 7.89474 KCND2 0 genome.wustl.edu 37 7 119915718 119915718 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 119915718 119915718 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.1032 p.Y344 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 115 0 0 96 39 28.8889 PTPRZ1 0 genome.wustl.edu 37 7 121678929 121678929 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 121678929 121678929 G A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.5488 p.V1830M 0.992 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 83 0 0 80 24 23.0769 PTPRZ1 0 genome.wustl.edu 37 7 121684548 121684548 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 121684548 121684548 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.6010 p.H2004Y 0.998 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 70 0 0 54 21 28 AASS 0 genome.wustl.edu 37 7 121716572 121716572 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 121716572 121716572 A G SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.2752 p.Y918H 0.640 NULL pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 60 0 0 42 9 17.6471 CADPS2 0 genome.wustl.edu 37 7 122194638 122194638 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 122194638 122194638 G A SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known nonsense c.1441 p.R481* 0.992 superfamily_C2_dom pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 38 0 0 27 11 28.9474 SCIN 0 genome.wustl.edu 37 7 12675760 12675760 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 12675760 12675760 G T SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1410 p.Q470H 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 28 0 0 15 9 37.5 SND1 0 genome.wustl.edu 37 7 127361447 127361447 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 127361447 127361447 A G SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.1145 p.N382S 0.997 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 86 0 0 101 7 6.48148 TNPO3 0 genome.wustl.edu 37 7 128630033 128630033 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 128630033 128630033 G A SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known nonsense c.1582 p.R528* 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 77 0 0 94 14 12.963 AHCYL2 0 genome.wustl.edu 37 7 129040190 129040190 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 129040190 129040190 A G SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known missense c.883 p.R295G 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 73 0 0 74 16 17.7778 CPA2 0 genome.wustl.edu 37 7 129919461 129919461 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 129919461 129919461 T C SNP CPA2 ENST00000222481 human ensembl 74_37 +1 known missense c.946 p.Y316H 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA2 HGNC ENSG00000158516 59 0 0 50 21 29.5775 MKLN1 0 genome.wustl.edu 37 7 131122564 131122564 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 131122564 131122564 G A SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known silent c.981 p.S327 0.664 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 106 1 0.934579 110 26 19.1176 PLXNA4 0 genome.wustl.edu 37 7 131825492 131825492 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 131825492 131825492 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.5304 p.D1768 0.743 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 157 0 0 120 40 25 PLXNA4 0 genome.wustl.edu 37 7 131831420 131831420 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 131831420 131831420 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.4904 p.R1635H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 224 0 0 231 23 9.05512 TMEM140 0 genome.wustl.edu 37 7 134849303 134849303 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 134849303 134849303 G A SNP TMEM140 ENST00000275767 human ensembl 74_37 +1 known missense c.110 p.G37D 0.999 NULL NULL - no_errors TMEM140 HGNC ENSG00000146859 143 0 0 171 11 6.04396 CNOT4 0 genome.wustl.edu 37 7 135047842 135047842 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 135047842 135047842 C A SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.1937 p.G646V 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 173 0 0 206 52 20.155 PTN 0 genome.wustl.edu 37 7 136936035 136936035 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 136936035 136936035 G A SNP PTN ENST00000348225 human ensembl 74_37 -1 known silent c.393 p.C131 1.000 pfam_PTN/MK_C_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 207 0 0 192 55 22.2672 ATP6V0A4 0 genome.wustl.edu 37 7 138417780 138417780 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 138417780 138417780 G T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.1750 p.L584M 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 75 0 0 79 22 21.7822 KLRG2 0 genome.wustl.edu 37 7 139168372 139168372 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 139168372 139168372 T C SNP KLRG2 ENST00000340940 human ensembl 74_37 -1 known missense c.17 p.E6G 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 15 0 0 29 7 19.4444 JHDM1D 0 genome.wustl.edu 37 7 139798732 139798732 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 139798732 139798732 T C SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.1865 p.E622G 0.825 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 35 0 0 32 13 28.8889 JHDM1D 0 genome.wustl.edu 37 7 139829334 139829334 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 139829334 139829334 G T SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.518 p.P173H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 47 0 0 39 13 25 JHDM1D 0 genome.wustl.edu 37 7 139829343 139829343 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 139829343 139829343 A C SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.509 p.L170R 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 47 0 0 40 11 21.5686 DENND2A 0 genome.wustl.edu 37 7 140273781 140273781 + Nonsense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 140273781 140273781 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known nonsense c.1273 p.R425* 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 171 0 0 163 53 24.537 MGAM 0 genome.wustl.edu 37 7 141736642 141736642 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 141736642 141736642 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.2096 p.F699S 0.994 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 193 0 0 199 50 20.0803 EPHB6 0 genome.wustl.edu 37 7 142561975 142561975 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 142561975 142561975 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.417 p.D139 0.264 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 112 0 0 118 21 15.1079 EPHB6 0 genome.wustl.edu 37 7 142564248 142564248 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 142564248 142564248 T C SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.1472 p.V491A 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 87 0 0 75 19 20.2128 TRPV5 0 genome.wustl.edu 37 7 142606672 142606672 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 142606672 142606672 C T SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.1879 p.D627N 1.000 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 63 0 0 78 5 6.0241 KEL 0 genome.wustl.edu 37 7 142658034 142658034 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 142658034 142658034 G T SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.381 p.N127K 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 142 0 0 133 43 24.4318 GSTK1 0 genome.wustl.edu 37 7 142962278 142962278 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 142962278 142962278 G A SNP GSTK1 ENST00000479303 human ensembl 74_37 +1 known silent c.477 p.P159 0.000 NULL pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 15 0 0 25 5 16.6667 OR2A2 0 genome.wustl.edu 37 7 143807556 143807556 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 143807556 143807556 C T SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.881 p.A294V 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 169 0 0 153 37 19.4737 DGKB 0 genome.wustl.edu 37 7 14647098 14647098 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 14647098 14647098 C T SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1397 p.R466H 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 37 0 0 43 7 14 MICALL2 0 genome.wustl.edu 37 7 1484710 1484710 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 1484710 1484710 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.996 p.T332 0.002 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 10 0 0 8 8 50 ZNF398 0 genome.wustl.edu 37 7 148876528 148876528 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 148876528 148876528 C T SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known missense c.1579 p.R527C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 105 0 0 89 21 19.0909 ZNF746 0 genome.wustl.edu 37 7 149191461 149191461 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 149191461 149191461 G A SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.158 p.A53V 0.017 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 157 0 0 143 23 13.8554 GIMAP1 0 genome.wustl.edu 37 7 150416146 150416146 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150416146 150416146 G T SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.11 p.R4M 0.008 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 94 0 0 74 19 20.4301 GIMAP1 0 genome.wustl.edu 37 7 150417152 150417152 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150417152 150417152 T C SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known silent c.60 p.A20 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 373 0 0 372 123 24.8485 ABCB8 0 genome.wustl.edu 37 7 150730732 150730732 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150730732 150730732 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.187 p.V63M 0.005 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 94 0 0 75 20 21.0526 ABCB8 0 genome.wustl.edu 37 7 150742338 150742338 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150742338 150742338 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.2110 p.A704T 0.134 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 76 0 0 82 26 24.0741 CDK5 0 genome.wustl.edu 37 7 150754240 150754240 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150754240 150754240 G A SNP CDK5 ENST00000485972 human ensembl 74_37 -1 known silent c.45 p.Y15 0.991 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CDK5 HGNC ENSG00000164885 229 0 0 180 39 17.8082 CHPF2 0 genome.wustl.edu 37 7 150935685 150935685 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150935685 150935685 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.2237 p.R746H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 28 0 0 22 8 26.6667 NUB1 0 genome.wustl.edu 37 7 151053255 151053255 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 151053255 151053255 G C SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known missense c.712 p.D238H 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 31 0 0 38 19 33.3333 INTS1 0 genome.wustl.edu 37 7 1518062 1518062 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 1518062 1518062 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.5167 p.V1723I 0.998 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 45 0 0 47 14 22.9508 KMT2C 0 genome.wustl.edu 37 7 151891169 151891169 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 151891169 151891169 T A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.4585 p.S1529C 0.999 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 65 0 0 85 6 6.59341 INTS1 0 genome.wustl.edu 37 7 1519094 1519094 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 1519094 1519094 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.4898 p.P1633L 0.998 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 14 0 0 11 5 31.25 DPP6 0 genome.wustl.edu 37 7 154379692 154379692 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 154379692 154379692 A G SNP DPP6 ENST00000406326 human ensembl 74_37 +1 putative silent c.960 p.P320 0.000 NULL NULL - no_errors DPP6 HGNC ENSG00000130226 144 0 0 130 43 24.8555 SHH 0 genome.wustl.edu 37 7 155595711 155595711 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 155595711 155595711 C T SNP SHH ENST00000297261 human ensembl 74_37 -1 known silent c.1272 p.P424 0.000 pirsf_Hedgehog,pfam_Hint_dom pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 25 0 0 29 9 23.6842 UBE3C 0 genome.wustl.edu 37 7 157046698 157046698 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 157046698 157046698 C T SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known silent c.2745 p.N915 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 57 0 0 55 16 22.5352 AGR3 0 genome.wustl.edu 37 7 16913426 16913426 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 16913426 16913426 C A SNP AGR3 ENST00000310398 human ensembl 74_37 -1 known missense c.151 p.G51C 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR3 HGNC ENSG00000173467 59 0 0 42 9 17.6471 SNX13 0 genome.wustl.edu 37 7 17861275 17861275 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 17861275 17861275 C T SNP SNX13 ENST00000409389 human ensembl 74_37 -1 novel missense c.1735 p.A579T 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Phox,pfam_RGS_dom,pfam_Sorting_nexin_C,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 47 0 0 65 16 19.7531 MAD1L1 0 genome.wustl.edu 37 7 1997278 1997278 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 1997278 1997278 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1582 p.R528W 0.064 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 137 0 0 115 23 16.6667 ITGB8 0 genome.wustl.edu 37 7 20406735 20406735 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 20406735 20406735 A G SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.314 p.H105R 0.180 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 86 0 0 79 19 19.3878 ITGB8 0 genome.wustl.edu 37 7 20441713 20441713 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 20441713 20441713 T C SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.1651 p.F551L 1.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 71 0 0 101 12 10.6195 ABCB5 0 genome.wustl.edu 37 7 20778638 20778638 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 20778638 20778638 C T SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1565 p.A522V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 28 0 0 11 8 42.1053 DNAH11 0 genome.wustl.edu 37 7 21639578 21639578 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 21639578 21639578 A G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.2841 p.Q947 0.992 NULL 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 29 0 0 20 5 20 DNAH11 0 genome.wustl.edu 37 7 21778372 21778372 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 21778372 21778372 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.7720 p.G2574* 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 20 0 0 5 3 37.5 DNAH11 0 genome.wustl.edu 37 7 21784143 21784143 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 21784143 21784143 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8263 p.D2755Y 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 130 0 0 104 41 28.2759 RAPGEF5 0 genome.wustl.edu 37 7 22162082 22162082 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 22162082 22162082 A G SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.2135 p.V712A 0.998 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 67 0 0 54 19 26.0274 RAPGEF5 0 genome.wustl.edu 37 7 22176551 22176551 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 22176551 22176551 T G SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known silent c.1869 p.T623 0.195 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 10 0 0 14 3 17.6471 STEAP1B 0 genome.wustl.edu 37 7 22532994 22532994 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 22532994 22532994 G A SNP STEAP1B ENST00000406890 human ensembl 74_37 -1 known silent c.489 p.Y163 0.986 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 25 0 0 39 10 20.4082 NUDT1 0 genome.wustl.edu 37 7 2290630 2290630 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 2290630 2290630 G A SNP NUDT1 ENST00000343985 human ensembl 74_37 +1 known silent c.534 p.T178 0.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase - no_errors NUDT1 HGNC ENSG00000106268 176 0 0 180 62 25.6198 GPNMB 0 genome.wustl.edu 37 7 23296675 23296675 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 23296675 23296675 C A SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.532 p.H178N 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 64 0 0 72 21 22.5806 GPNMB 0 genome.wustl.edu 37 7 23300169 23300169 + Silent SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 23300169 23300169 C G SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known silent c.795 p.V265 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 103 0 0 100 26 20.6349 NFE2L3 0 genome.wustl.edu 37 7 26224356 26224356 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 26224356 26224356 T G SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.1038 p.N346K 0.118 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 75 0 0 107 7 6.14035 HNRNPA2B1 0 genome.wustl.edu 37 7 26236958 26236958 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 26236958 26236958 G A SNP HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known missense c.277 p.P93S 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 144 0 0 131 40 23.3918 TTYH3 0 genome.wustl.edu 37 7 2701302 2701302 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 2701302 2701302 T C SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known missense c.1501 p.Y501H 1.000 NULL pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 36 0 0 35 10 22.2222 HOXA1 0 genome.wustl.edu 37 7 27134370 27134370 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 27134370 27134370 G A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known missense c.697 p.R233C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 122 0 0 134 28 17.284 HOXA4 0 genome.wustl.edu 37 7 27168942 27168942 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 27168942 27168942 C T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.865 p.A289T 0.864 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 105 0 0 94 25 21.0084 CREB5 0 genome.wustl.edu 37 7 28848848 28848848 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 28848848 28848848 G A SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known silent c.1071 p.Q357 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 89 0 0 89 37 29.3651 FKBP14 0 genome.wustl.edu 37 7 30054358 30054358 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 30054358 30054358 T G SNP FKBP14 ENST00000222803 human ensembl 74_37 -1 known missense c.629 p.E210A 1.000 pfscan_EF_hand_dom pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP14 HGNC ENSG00000106080 25 0 0 24 2 7.69231 AVL9 0 genome.wustl.edu 37 7 32598822 32598822 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 32598822 32598822 C T SNP AVL9 ENST00000404479 human ensembl 74_37 +1 known missense c.961 p.R321C 0.073 pfam_ABL9/DENND6_dom pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 68 0 0 73 8 9.87654 KBTBD2 0 genome.wustl.edu 37 7 32909150 32909150 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 32909150 32909150 C T SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.1679 p.R560Q 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 108 0 0 140 26 15.6627 NPSR1 0 genome.wustl.edu 37 7 34724198 34724198 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 34724198 34724198 T C SNP NPSR1 ENST00000381539 human ensembl 74_37 +1 known missense c.182 p.V61A 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors NPSR1 HGNC ENSG00000187258 105 0 0 106 35 24.8227 DPY19L2P1 0 genome.wustl.edu 37 7 35131338 35131338 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 35131338 35131338 C T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 8 0 0 6 3 33.3333 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 49 0 0 64 7 9.85915 ANLN 0 genome.wustl.edu 37 7 36438710 36438710 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 36438710 36438710 G A SNP ANLN ENST00000265748 human ensembl 74_37 +1 known silent c.195 p.S65 0.933 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 49 0 0 34 8 19.0476 ELMO1 0 genome.wustl.edu 37 7 36910080 36910080 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 36910080 36910080 A C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1823 p.L608R 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 49 0 0 31 15 32.6087 POU6F2 0 genome.wustl.edu 37 7 39125534 39125534 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 39125534 39125534 T C SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.93 p.G31 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 38 0 0 37 18 32.7273 SDK1 0 genome.wustl.edu 37 7 4002413 4002413 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 4002413 4002413 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.1359 p.S453 0.543 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 40 0 0 25 11 30.5556 CDK13 0 genome.wustl.edu 37 7 40132784 40132784 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 40132784 40132784 T C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.3636 p.H1212 0.971 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 70 0 0 95 21 18.1034 MPLKIP 0 genome.wustl.edu 37 7 40172675 40172675 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 40172675 40172675 C T SNP MPLKIP ENST00000306984 human ensembl 74_37 -1 known missense c.523 p.G175R 1.000 NULL NULL - no_errors MPLKIP HGNC ENSG00000168303 42 0 0 35 12 25.5319 SDK1 0 genome.wustl.edu 37 7 4185463 4185463 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 4185463 4185463 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.4338 p.S1446 0.259 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 91 0 0 69 21 23.3333 GLI3 0 genome.wustl.edu 37 7 42005218 42005218 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 42005218 42005218 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3453 p.P1151 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 234 0 0 233 80 25.5591 GLI3 0 genome.wustl.edu 37 7 42005545 42005545 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 42005545 42005545 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3126 p.R1042 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 53 0 0 69 4 5.47945 HECW1 0 genome.wustl.edu 37 7 43351403 43351403 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 43351403 43351403 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.69 p.A23 0.004 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 125 0 0 146 24 14.1176 URGCP 0 genome.wustl.edu 37 7 43916374 43916374 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 43916374 43916374 A G SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.2688 p.S896 0.941 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 84 0 0 110 22 16.6667 AEBP1 0 genome.wustl.edu 37 7 44147101 44147101 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 44147101 44147101 A G SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.659 p.H220R 0.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 48 0 0 55 16 22.5352 NUDCD3 0 genome.wustl.edu 37 7 44467252 44467252 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 44467252 44467252 C T SNP NUDCD3 ENST00000355451 human ensembl 74_37 -1 known missense c.560 p.R187Q 1.000 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD3 HGNC ENSG00000015676 70 0 0 92 9 8.91089 OGDH 0 genome.wustl.edu 37 7 44747288 44747288 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 44747288 44747288 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known silent c.2904 p.Y968 0.989 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 121 0 0 151 8 5.03145 ZMIZ2 0 genome.wustl.edu 37 7 44805866 44805866 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 44805866 44805866 C A SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.2346 p.S782 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 115 0 0 97 11 10.1852 ADCY1 0 genome.wustl.edu 37 7 45753552 45753552 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 45753552 45753552 A G SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.3318 p.P1106 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 51 0 0 64 10 13.5135 PKD1L1 0 genome.wustl.edu 37 7 47917169 47917169 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 47917169 47917169 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.3581 p.R1194Q 0.266 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 113 0 0 158 16 9.1954 PKD1L1 0 genome.wustl.edu 37 7 47921655 47921655 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 47921655 47921655 T C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.3294 p.G1098 0.008 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 51 0 0 51 19 27.1429 AP5Z1 0 genome.wustl.edu 37 7 4830445 4830445 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 4830445 4830445 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.2080 p.P694S 0.032 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 22 0 0 34 4 10.5263 ABCA13 0 genome.wustl.edu 37 7 48314923 48314923 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 48314923 48314923 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.5660 p.V1887A 0.034 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 75 0 0 95 5 5 MMD2 0 genome.wustl.edu 37 7 4955655 4955655 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 4955655 4955655 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.346 p.A116T 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 79 0 0 75 19 20.2128 IKZF1 0 genome.wustl.edu 37 7 50468030 50468030 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 50468030 50468030 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1265 p.A422V 0.656 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 44 0 0 51 8 13.5593 POM121L12 0 genome.wustl.edu 37 7 53103709 53103709 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 53103709 53103709 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known silent c.345 p.A115 0.001 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 61 0 0 69 6 8 EGFR 0 genome.wustl.edu 37 7 55225437 55225437 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 55225437 55225437 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1289 p.T430I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 62 0 0 51 17 25 EGFR 0 genome.wustl.edu 37 7 55229247 55229247 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 55229247 55229247 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1554 p.P518 0.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 139 0 0 156 29 15.6757 FBXL18 0 genome.wustl.edu 37 7 5540534 5540534 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 5540534 5540534 C T SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.1366 p.V456M 0.972 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 15 0 0 35 5 12.5 FBXL18 0 genome.wustl.edu 37 7 5540845 5540845 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 5540845 5540845 C T SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.1055 p.G352D 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 31 0 0 45 15 25 AIMP2 0 genome.wustl.edu 37 7 6063150 6063150 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 6063150 6063150 G T SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.791 p.G264V 1.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 52 0 0 52 22 29.7297 USP42 0 genome.wustl.edu 37 7 6193713 6193713 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 6193713 6193713 C T SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.2528 p.P843L 0.003 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 71 0 0 98 35 26.3158 ZNF679 0 genome.wustl.edu 37 7 63726784 63726784 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 63726784 63726784 A T SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.773 p.H258L 0.921 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 ZNF679 HGNC ENSG00000197123 48 0 0 34 4 10.5263 DAGLB 0 genome.wustl.edu 37 7 6449537 6449537 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 6449537 6449537 G A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.1950 p.S650 0.005 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 90 0 0 98 30 23.4375 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 15 0 0 22 6 21.4286 GUSB 0 genome.wustl.edu 37 7 65444872 65444872 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 65444872 65444872 C T SNP GUSB ENST00000304895 human ensembl 74_37 -1 known silent c.423 p.E141 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like,prints_Glyco_hydro_2 pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 30 0 0 39 3 7.14286 GUSB 0 genome.wustl.edu 37 7 65445306 65445306 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 65445306 65445306 A G SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.301 p.Y101H 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 33 0 0 46 12 20.6897 GUSB 0 genome.wustl.edu 37 7 65447029 65447029 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 65447029 65447029 G T SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.142 p.R48S 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 37 0 0 34 11 24.4444 TYW1 0 genome.wustl.edu 37 7 66548473 66548473 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 66548473 66548473 T C SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.1331 p.M444T 1.000 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 51 0 0 77 13 14.4444 ZNF12 0 genome.wustl.edu 37 7 6730792 6730792 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 6730792 6730792 C T SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known missense c.1781 p.R594Q 0.008 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 ZNF12 HGNC ENSG00000164631 50 0 0 48 20 29.4118 POM121 0 genome.wustl.edu 37 7 72412463 72412463 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 72412463 72412463 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.1931 p.P644L 0.002 NULL NULL - no_errors POM121 HGNC ENSG00000196313 28 0 0 21 12 36.3636 NSUN5P2 0 genome.wustl.edu 37 7 72419291 72419291 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 72419291 72419291 G A SNP NSUN5P2 ENST00000388955 human ensembl 74_37 -1 known rna NULL NULL 0.148 - - - no_errors NSUN5P2 HGNC ENSG00000106133 28 0 0 44 11 20 LIMK1 0 genome.wustl.edu 37 7 73513362 73513362 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 73513362 73513362 C T SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.402 p.C134 0.489 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 215 0 0 199 48 19.4332 GTF2IRD2 0 genome.wustl.edu 37 7 74211866 74211866 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 74211866 74211866 G A SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known missense c.1985 p.A662V 0.019 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 51 0 0 55 11 16.6667 POM121C 0 genome.wustl.edu 37 7 75050921 75050921 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 75050921 75050921 T G SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.3340 p.S1114R 0.994 NULL NULL - no_errors POM121C HGNC ENSG00000135213 70 0 0 85 17 16.6667 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76619615 76619615 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 76619615 76619615 G A SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 74_37 +1 known rna NULL NULL 0.238 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 39 0 0 36 10 21.7391 HEATR2 0 genome.wustl.edu 37 7 780505 780505 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 780505 780505 G A SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.830 p.R277H 0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 150 0 0 177 40 18.4332 PCLO 0 genome.wustl.edu 37 7 82579421 82579421 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 82579421 82579421 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10483 p.G3495W 0.949 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 59 0 0 59 8 11.9403 PCLO 0 genome.wustl.edu 37 7 82581681 82581681 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 82581681 82581681 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8588 p.A2863V 0.263 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 57 0 0 44 13 22.807 PCLO 0 genome.wustl.edu 37 7 82581762 82581762 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 82581762 82581762 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8507 p.Y2836C 0.529 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 42 0 0 32 7 17.9487 SEMA3E 0 genome.wustl.edu 37 7 82997084 82997084 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 82997084 82997084 G T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.2146 p.L716M 1.000 NULL pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 87 0 0 79 24 23.301 DMTF1 0 genome.wustl.edu 37 7 86813856 86813856 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 86813856 86813856 C T SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.964 p.R322C 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 56 0 0 58 5 7.93651 ZNF804B 0 genome.wustl.edu 37 7 88962741 88962741 + Nonsense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 88962741 88962741 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known nonsense c.445 p.G149* 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 53 0 0 42 19 31.1475 ZNF804B 0 genome.wustl.edu 37 7 88965970 88965970 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 88965970 88965970 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3674 p.S1225Y 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 141 0 0 124 18 12.6761 ZNF804B 0 genome.wustl.edu 37 7 88966013 88966013 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 88966013 88966013 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known silent c.3717 p.S1239 0.939 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 141 0 0 130 26 16.6667 ZNF804B 0 genome.wustl.edu 37 7 88966093 88966093 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 88966093 88966093 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3797 p.H1266R 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 176 0 0 137 44 24.3094 STEAP1 0 genome.wustl.edu 37 7 89790371 89790371 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 89790371 89790371 G A SNP STEAP1 ENST00000297205 human ensembl 74_37 +1 known missense c.337 p.V113I 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 56 0 0 78 19 19.5876 AKAP9 0 genome.wustl.edu 37 7 91641856 91641856 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 91641856 91641856 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.3468 p.C1156 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 50 0 0 43 14 24.5614 AKAP9 0 genome.wustl.edu 37 7 91668044 91668044 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 91668044 91668044 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.4686 p.E1562 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 48 0 0 73 8 9.87654 ANKIB1 0 genome.wustl.edu 37 7 92027979 92027979 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 92027979 92027979 A G SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.2986 p.S996G 0.944 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 86 0 0 88 33 27.2727 HEPACAM2 0 genome.wustl.edu 37 7 92838028 92838028 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 92838028 92838028 T C SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known missense c.877 p.I293V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 62 0 0 70 20 22.2222 PPP1R9A 0 genome.wustl.edu 37 7 94740662 94740662 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 94740662 94740662 G A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1487 p.R496H 1.000 superfamily_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 31 0 0 31 8 20.5128 PON3 0 genome.wustl.edu 37 7 94991719 94991719 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 94991719 94991719 A G SNP PON3 ENST00000451904 human ensembl 74_37 -1 putative missense c.809 p.L270P 0.024 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase - no_errors PON3 HGNC ENSG00000105852 43 0 0 56 8 12.5 BHLHA15 0 genome.wustl.edu 37 7 97841934 97841934 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 97841934 97841934 G A SNP BHLHA15 ENST00000314018 human ensembl 74_37 +1 known missense c.313 p.V105M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHA15 HGNC ENSG00000180535 21 0 0 26 4 13.3333 TECPR1 0 genome.wustl.edu 37 7 97852330 97852330 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 97852330 97852330 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.2906 p.R969H 1.000 pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 22 0 0 15 4 21.0526 TRRAP 0 genome.wustl.edu 37 7 98574269 98574269 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 98574269 98574269 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.8102 p.N2701S 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 93 0 0 104 27 20.6107 ZNF394 0 genome.wustl.edu 37 7 99092078 99092078 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99092078 99092078 T C SNP ZNF394 ENST00000337673 human ensembl 74_37 -1 known missense c.760 p.K254E 0.187 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 98 0 0 119 34 22.2222 ZNF655 0 genome.wustl.edu 37 7 99161658 99161658 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99161658 99161658 G A SNP ZNF655 ENST00000320583 human ensembl 74_37 +1 known silent c.522 p.S174 1.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF655 HGNC ENSG00000197343 89 0 0 65 9 12.1622 ZSCAN25 0 genome.wustl.edu 37 7 99217354 99217354 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99217354 99217354 G A SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known missense c.125 p.R42Q 0.956 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 207 0 0 219 81 27 AZGP1 0 genome.wustl.edu 37 7 99569446 99569446 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99569446 99569446 C T SNP AZGP1 ENST00000292401 human ensembl 74_37 -1 known missense c.260 p.S87N 0.767 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors AZGP1 HGNC ENSG00000160862 83 0 0 97 8 7.61905 ZSCAN21 0 genome.wustl.edu 37 7 99654775 99654775 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99654775 99654775 G T SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.146 p.R49M 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 162 0 0 156 51 24.6377 MCM7 0 genome.wustl.edu 37 7 99696968 99696968 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99696968 99696968 C T SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.335 p.R112Q 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 134 0 0 163 23 12.3656 STAG3 0 genome.wustl.edu 37 7 99796125 99796125 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99796125 99796125 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known silent c.1272 p.A424 0.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 115 0 0 120 32 21.0526 GATS 0 genome.wustl.edu 37 7 99821209 99821209 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99821209 99821209 G A SNP GATS ENST00000328453 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors GATS Clone_based_vega_gene ENSG00000239521 190 0 0 216 51 19.1011 MSRA 0 genome.wustl.edu 37 8 10285672 10285672 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 10285672 10285672 C T SNP MSRA ENST00000317173 human ensembl 74_37 +1 known silent c.558 p.H186 0.001 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 59 0 0 57 14 19.7183 KLF10 0 genome.wustl.edu 37 8 103664221 103664221 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 103664221 103664221 C T SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known silent c.339 p.A113 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 91 0 0 91 13 12.5 SLC25A32 0 genome.wustl.edu 37 8 104415462 104415462 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 104415462 104415462 C T SNP SLC25A32 ENST00000297578 human ensembl 74_37 -1 known missense c.482 p.R161Q 0.987 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 50 0 0 45 12 21.0526 DCAF13 0 genome.wustl.edu 37 8 104427572 104427572 + Silent SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 104427572 104427572 T G SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.354 p.T118 0.984 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 113 0 0 128 17 11.7241 RP1L1 0 genome.wustl.edu 37 8 10466703 10466703 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 10466703 10466703 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.4905 p.D1635 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 35 0 0 30 10 25 RIMS2 0 genome.wustl.edu 37 8 104924330 104924330 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 104924330 104924330 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1742 p.R581H 1.000 superfamily_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 88 0 0 77 15 16.3043 LRP12 0 genome.wustl.edu 37 8 105509436 105509436 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 105509436 105509436 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.1287 p.C429 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 127 0 0 79 27 25.4717 ZFPM2 0 genome.wustl.edu 37 8 106431520 106431520 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 106431520 106431520 T C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.189 p.F63 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 51 0 0 89 5 5.31915 PKHD1L1 0 genome.wustl.edu 37 8 110539153 110539153 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 110539153 110539153 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.12625 p.A4209P 0.915 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 18 0 0 27 5 15.625 SYBU 0 genome.wustl.edu 37 8 110587169 110587169 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 110587169 110587169 G A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1958 p.S653L 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 107 0 0 103 25 19.5312 FAM167A 0 genome.wustl.edu 37 8 11301594 11301594 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 11301594 11301594 C A SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known missense c.327 p.K109N 0.397 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 118 0 0 131 7 5.07246 CSMD3 0 genome.wustl.edu 37 8 113293470 113293470 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 113293470 113293470 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.9441 p.L3147 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 62 0 0 56 14 20 CSMD3 0 genome.wustl.edu 37 8 113364726 113364726 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 113364726 113364726 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.6174 p.P2058 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 62 0 0 56 10 15.1515 CSMD3 0 genome.wustl.edu 37 8 113518988 113518988 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 113518988 113518988 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.4827 p.P1609 0.070 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 63 0 0 60 17 22.0779 TRPS1 0 genome.wustl.edu 37 8 116599543 116599543 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 116599543 116599543 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2385 p.T795 0.170 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 423 0 0 318 69 17.8295 FDFT1 0 genome.wustl.edu 37 8 11667360 11667360 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 11667360 11667360 G A SNP FDFT1 ENST00000220584 human ensembl 74_37 +1 known splice_site c.381+1 e3+1 1.000 - - - no_errors FDFT1 HGNC ENSG00000079459 29 0 0 26 14 35 FDFT1 0 genome.wustl.edu 37 8 11689081 11689081 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 11689081 11689081 G T SNP FDFT1 ENST00000220584 human ensembl 74_37 +1 known missense c.934 p.G312W 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth - no_errors FDFT1 HGNC ENSG00000079459 71 0 0 87 9 9.375 EXT1 0 genome.wustl.edu 37 8 118830743 118830743 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 118830743 118830743 C T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known silent c.1563 p.K521 0.998 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 129 0 0 133 27 16.875 ENPP2 0 genome.wustl.edu 37 8 120598486 120598486 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 120598486 120598486 G A SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.1463 p.A488V 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 70 0 0 66 12 15.3846 DSCC1 0 genome.wustl.edu 37 8 120859283 120859283 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 120859283 120859283 C G SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known missense c.524 p.S175T 1.000 pfam_Sister_chromatid_cohesion_Dcc1 pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 36 0 0 28 5 15.1515 COL14A1 0 genome.wustl.edu 37 8 121357800 121357800 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 121357800 121357800 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.5075 p.R1692Q 1.000 pfam_Collagen pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 31 0 0 39 6 13.3333 MTBP 0 genome.wustl.edu 37 8 121463481 121463481 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 121463481 121463481 C T SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.344 p.T115M 0.987 NULL NULL - no_errors MTBP HGNC ENSG00000172167 35 0 0 19 14 42.4242 ZHX1 0 genome.wustl.edu 37 8 124267534 124267534 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 124267534 124267534 C T SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.653 p.R218H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 68 0 0 78 24 23.5294 FAM91A1 0 genome.wustl.edu 37 8 124787486 124787486 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 124787486 124787486 T C SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.257 p.M86T 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 35 0 0 45 10 18.1818 RNF139 0 genome.wustl.edu 37 8 125499070 125499070 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 125499070 125499070 T C SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known missense c.1180 p.F394L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 200 0 0 201 59 22.6923 SQLE 0 genome.wustl.edu 37 8 126034042 126034042 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 126034042 126034042 C T SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.1580 p.A527V 1.000 pfam_Squalene_epoxidase pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 15 0 0 14 3 17.6471 GSDMC 0 genome.wustl.edu 37 8 130760756 130760756 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 130760756 130760756 A G SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known silent c.1518 p.A506 0.002 NULL pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 208 0 0 240 13 5.13834 ADCY8 0 genome.wustl.edu 37 8 131792713 131792713 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 131792713 131792713 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3679 p.R1227W 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 100 0 0 101 25 19.8413 KCNQ3 0 genome.wustl.edu 37 8 133142016 133142016 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 133142016 133142016 A G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.2112 p.I704 0.780 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 71 0 0 83 23 21.6981 TG 0 genome.wustl.edu 37 8 133900795 133900795 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 133900795 133900795 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.2743 p.P915S 0.010 superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 26 0 0 30 6 16.6667 TG 0 genome.wustl.edu 37 8 133909917 133909917 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 133909917 133909917 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.3025 p.R1009C 0.000 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 202 1 0.492611 214 14 6.14035 TG 0 genome.wustl.edu 37 8 133925436 133925436 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 133925436 133925436 G T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4304 p.R1435M 0.833 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 75 0 0 82 28 25.4545 FAM135B 0 genome.wustl.edu 37 8 139164310 139164310 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 139164310 139164310 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2408 p.S803N 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 44 0 0 53 19 26.3889 COL22A1 0 genome.wustl.edu 37 8 139890450 139890450 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 139890450 139890450 G T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.201 p.T67 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 18 0 0 10 8 44.4444 TRAPPC9 0 genome.wustl.edu 37 8 141461249 141461249 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 141461249 141461249 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.518 p.R173H 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 86 0 0 87 23 20.9091 AGO2 0 genome.wustl.edu 37 8 141559308 141559308 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 141559308 141559308 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1493 p.A498V 0.994 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 42 0 0 54 4 6.89655 DENND3 0 genome.wustl.edu 37 8 142176477 142176477 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 142176477 142176477 G A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.1502 p.G501D 0.002 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 94 0 0 120 12 9.09091 JRK 0 genome.wustl.edu 37 8 143747176 143747176 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 143747176 143747176 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.341 - - - no_errors JRK HGNC ENSG00000234616 25 0 0 22 2 8.33333 ZC3H3 0 genome.wustl.edu 37 8 144550640 144550640 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144550640 144550640 A C SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.2017 p.C673G 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 28 0 0 19 9 32.1429 ZC3H3 0 genome.wustl.edu 37 8 144621455 144621455 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144621455 144621455 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.82 p.A28T 0.850 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 70 0 0 76 4 5 EEF1D 0 genome.wustl.edu 37 8 144671963 144671963 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144671963 144671963 C A SNP EEF1D ENST00000423316 human ensembl 74_37 -1 known missense c.289 p.G97C 0.005 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC ENSG00000104529 41 0 0 51 7 12.069 PYCRL 0 genome.wustl.edu 37 8 144688837 144688837 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144688837 144688837 T G SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known missense c.385 p.N129H 0.000 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 19 0 0 16 6 27.2727 FAM83H 0 genome.wustl.edu 37 8 144810228 144810228 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144810228 144810228 C T SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.1403 p.R468H 0.305 NULL pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 63 0 0 71 17 19.3182 SCRIB 0 genome.wustl.edu 37 8 144891172 144891172 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144891172 144891172 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known silent c.1722 p.D574 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 72 0 0 74 21 22.1053 EPPK1 0 genome.wustl.edu 37 8 144942815 144942815 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144942815 144942815 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.4607 p.A1536V 0.364 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 19 0 0 16 5 23.8095 PLEC 0 genome.wustl.edu 37 8 144993438 144993438 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144993438 144993438 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.10962 p.T3654 0.001 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 231 0 0 199 60 23.166 PLEC 0 genome.wustl.edu 37 8 144993811 144993811 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144993811 144993811 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10589 p.A3530V 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 48 0 0 34 12 26.087 PLEC 0 genome.wustl.edu 37 8 144995199 144995199 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144995199 144995199 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.9201 p.S3067 0.001 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 125 0 0 112 21 15.7895 PLEC 0 genome.wustl.edu 37 8 144995468 144995468 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 144995468 144995468 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8932 p.R2978C 0.698 pfam_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 187 0 0 209 33 13.6364 OPLAH 0 genome.wustl.edu 37 8 145110070 145110070 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145110070 145110070 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.2271 p.Q757 1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 50 0 0 52 15 22.3881 OPLAH 0 genome.wustl.edu 37 8 145111623 145111623 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145111623 145111623 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.1742 p.R581H 1.000 NULL pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 32 0 0 44 11 20 GPAA1 0 genome.wustl.edu 37 8 145139149 145139149 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145139149 145139149 C T SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known silent c.729 p.N243 0.670 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 70 0 0 75 7 8.53659 GPAA1 0 genome.wustl.edu 37 8 145139362 145139362 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145139362 145139362 T C SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.860 p.L287P 0.924 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 83 0 0 88 14 13.7255 ENSG00000232600 0 genome.wustl.edu 37 8 145662380 145662380 + Splice_Site SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145662380 145662380 T C SNP ENSG00000232600 ENST00000544423 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.002 - - - no_errors AC084125.4 Clone_based_vega_gene ENSG00000232600 35 0 0 42 15 26.3158 CYHR1 0 genome.wustl.edu 37 8 145689987 145689987 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145689987 145689987 T C SNP CYHR1 ENST00000438911 human ensembl 74_37 -1 known silent c.102 p.R34 1.000 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors CYHR1 HGNC ENSG00000187954 108 0 0 88 23 20.7207 MFSD3 0 genome.wustl.edu 37 8 145735838 145735838 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145735838 145735838 G A SNP MFSD3 ENST00000301327 human ensembl 74_37 +1 known missense c.778 p.V260I 0.993 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD3 HGNC ENSG00000167700 155 0 0 153 27 15 PDGFRL 0 genome.wustl.edu 37 8 17486274 17486274 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 17486274 17486274 C T SNP PDGFRL ENST00000251630 human ensembl 74_37 +1 known silent c.784 p.L262 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PDGFRL HGNC ENSG00000104213 39 0 0 39 12 23.5294 PSD3 0 genome.wustl.edu 37 8 18430057 18430057 + Missense_Mutation SNP G G C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 18430057 18430057 G C SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.2771 p.T924S 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 104 0 0 102 38 27.1429 PSD3 0 genome.wustl.edu 37 8 18729717 18729717 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 18729717 18729717 C T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known silent c.657 p.A219 0.015 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 117 0 0 112 23 17.037 HR 0 genome.wustl.edu 37 8 21978604 21978604 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 21978604 21978604 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2341 p.A781T 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 107 0 0 90 26 22.4138 BMP1 0 genome.wustl.edu 37 8 22053758 22053758 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 22053758 22053758 G A SNP BMP1 ENST00000397814 human ensembl 74_37 +1 known silent c.1830 p.T610 0.000 NULL pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors BMP1 HGNC ENSG00000168487 95 0 0 80 9 10.1124 TNFRSF10D 0 genome.wustl.edu 37 8 22995437 22995437 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 22995437 22995437 G A SNP TNFRSF10D ENST00000312584 human ensembl 74_37 -1 known silent c.1107 p.S369 0.001 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 48 0 0 57 8 12.3077 NEFM 0 genome.wustl.edu 37 8 24771352 24771352 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 24771352 24771352 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.46 p.R16W 1.000 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 30 0 0 39 5 11.3636 NEFM 0 genome.wustl.edu 37 8 24772112 24772112 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 24772112 24772112 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.806 p.A269V 1.000 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 126 0 0 141 10 6.62252 ADRA1A 0 genome.wustl.edu 37 8 26627968 26627968 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 26627968 26627968 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.1099 p.V367M 0.000 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 180 0 0 189 41 17.8261 CLU 0 genome.wustl.edu 37 8 27456034 27456034 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 27456034 27456034 G T SNP CLU ENST00000560366 human ensembl 74_37 -1 known missense c.1439 p.P480H 1.000 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 147 0 0 136 40 22.7273 CLU 0 genome.wustl.edu 37 8 27456151 27456151 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 27456151 27456151 A G SNP CLU ENST00000560366 human ensembl 74_37 -1 known missense c.1322 p.V441A 0.988 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 124 1 0.8 116 33 22.1477 CCDC25 0 genome.wustl.edu 37 8 27606032 27606032 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 27606032 27606032 C A SNP CCDC25 ENST00000356537 human ensembl 74_37 -1 known missense c.328 p.G110C 1.000 NULL pfam_DUF814 - no_errors CCDC25 HGNC ENSG00000147419 109 0 0 118 17 12.5926 ZNF395 0 genome.wustl.edu 37 8 28217189 28217189 + Silent SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 28217189 28217189 A G SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known silent c.393 p.C131 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 80 0 0 73 29 28.4314 FBXO16 0 genome.wustl.edu 37 8 28340947 28340947 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 28340947 28340947 G T SNP FBXO16 ENST00000521548 human ensembl 74_37 -1 known missense c.17 p.P6H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO16 HGNC ENSG00000214050 113 0 0 86 19 18.0952 DUSP4 0 genome.wustl.edu 37 8 29207699 29207699 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 29207699 29207699 T C SNP DUSP4 ENST00000240100 human ensembl 74_37 -1 known missense c.97 p.S33G 0.997 superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 42 0 0 53 7 11.6667 CSMD1 0 genome.wustl.edu 37 8 3046483 3046483 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 3046483 3046483 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5452 p.G1818S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 24 0 0 27 7 20.5882 TEX15 0 genome.wustl.edu 37 8 30699727 30699727 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 30699727 30699727 C T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.6807 p.K2269 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 33 0 0 43 4 8.51064 NRG1 0 genome.wustl.edu 37 8 32505649 32505649 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 32505649 32505649 A G SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known missense c.413 p.E138G 0.988 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 62 0 0 80 16 16.6667 TTI2 0 genome.wustl.edu 37 8 33369577 33369577 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 33369577 33369577 G A SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known silent c.555 p.C185 0.097 pfam_DUF2454 pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 265 0 0 305 24 7.29483 GPR124 0 genome.wustl.edu 37 8 37697756 37697756 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 37697756 37697756 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.2629 p.A877T 0.085 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 94 0 0 107 7 6.14035 PPAPDC1B 0 genome.wustl.edu 37 8 38126504 38126504 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 38126504 38126504 T C SNP PPAPDC1B ENST00000424479 human ensembl 74_37 -1 known missense c.79 p.T27A 0.979 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1B HGNC ENSG00000147535 20 0 0 25 6 19.3548 FGFR1 0 genome.wustl.edu 37 8 38279325 38279325 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 38279325 38279325 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known silent c.1164 p.T388 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 79 0 0 79 26 24.7619 ADAM2 0 genome.wustl.edu 37 8 39678684 39678684 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 39678684 39678684 A G SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.350 p.V117A 0.001 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 19 0 0 11 3 21.4286 ENSG00000272293 0 genome.wustl.edu 37 8 401220 401220 + RNA SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 401220 401220 A C SNP ENSG00000272293 ENST00000607549 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-91J19.3 Clone_based_vega_gene ENSG00000272293 22 0 0 12 6 33.3333 KAT6A 0 genome.wustl.edu 37 8 41790285 41790285 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 41790285 41790285 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.5453 p.S1818F 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 123 0 0 123 23 15.7534 KAT6A 0 genome.wustl.edu 37 8 41790549 41790549 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 41790549 41790549 C A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.5189 p.S1730I 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 146 0 0 133 10 6.99301 KAT6A 0 genome.wustl.edu 37 8 41800402 41800402 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 41800402 41800402 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2345 p.S782F 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 87 0 0 82 13 13.6842 HGSNAT 0 genome.wustl.edu 37 8 43013831 43013831 + Silent SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 43013831 43013831 C A SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known silent c.432 p.T144 0.000 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 128 0 0 117 13 10 PRKDC 0 genome.wustl.edu 37 8 48697726 48697726 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 48697726 48697726 G T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.11052 p.P3684 0.907 superfamily_Kinase-like_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 54 0 0 60 6 9.09091 PRKDC 0 genome.wustl.edu 37 8 48746911 48746911 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 48746911 48746911 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.7995 p.P2665 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 149 0 0 126 38 23.1707 MCM4 0 genome.wustl.edu 37 8 48875409 48875409 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 48875409 48875409 G A SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.587 p.R196Q 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 98 0 0 94 5 5.05051 PCMTD1 0 genome.wustl.edu 37 8 52744118 52744118 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 52744118 52744118 T C SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.592 p.I198V 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 46 0 0 44 5 10.2041 RP1 0 genome.wustl.edu 37 8 55542253 55542253 + Nonsense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 55542253 55542253 T A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known nonsense c.5811 p.Y1937* 0.996 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 65 0 0 70 21 23.0769 XKR4 0 genome.wustl.edu 37 8 56015465 56015465 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 56015465 56015465 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.417 p.R139 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 73 0 0 105 6 5.40541 AGPAT5 0 genome.wustl.edu 37 8 6588288 6588288 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 6588288 6588288 C T SNP AGPAT5 ENST00000285518 human ensembl 74_37 +1 known missense c.346 p.R116C 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC ENSG00000155189 63 0 0 43 13 23.2143 TRIM55 0 genome.wustl.edu 37 8 67064625 67064625 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 67064625 67064625 A T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.999 p.E333D 0.997 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 11 0 0 16 4 20 DEFB1 0 genome.wustl.edu 37 8 6735366 6735366 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 6735366 6735366 T C SNP DEFB1 ENST00000297439 human ensembl 74_37 -1 known missense c.14 p.Y5C 0.000 NULL pfam_Defensin_beta-typ - no_errors DEFB1 HGNC ENSG00000164825 77 0 0 70 13 15.6627 CSPP1 0 genome.wustl.edu 37 8 68007801 68007801 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 68007801 68007801 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.784 p.A262T 0.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 58 0 0 59 12 16.9014 ARFGEF1 0 genome.wustl.edu 37 8 68163614 68163614 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 68163614 68163614 C T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.2770 p.A924T 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 32 0 0 34 12 26.087 PREX2 0 genome.wustl.edu 37 8 68956788 68956788 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 68956788 68956788 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.906 p.T302 0.133 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 95 0 0 75 13 14.7727 PREX2 0 genome.wustl.edu 37 8 68992731 68992731 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 68992731 68992731 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1696 p.D566N 1.000 pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 55 0 0 38 8 17.3913 NCOA2 0 genome.wustl.edu 37 8 71082472 71082472 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 71082472 71082472 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.506 p.T169M 0.900 pfam_PAS_fold,superfamily_PAS,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 27 0 0 21 3 12.5 LOC100132891 0 genome.wustl.edu 37 8 72755866 72755866 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 72755866 72755866 C T SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.230 p.A77V 0.001 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 72 0 0 76 17 18.2796 KCNB2 0 genome.wustl.edu 37 8 73480200 73480200 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 73480200 73480200 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.231 p.C77 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv8 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 80 0 0 74 18 19.5652 LY96 0 genome.wustl.edu 37 8 74903699 74903699 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 74903699 74903699 T C SNP LY96 ENST00000284818 human ensembl 74_37 +1 known missense c.22 p.S8P 0.992 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY96 HGNC ENSG00000154589 84 0 0 84 7 7.69231 ZFHX4 0 genome.wustl.edu 37 8 77618298 77618298 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 77618298 77618298 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.1975 p.L659 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 62 0 0 64 5 7.24638 ZFHX4 0 genome.wustl.edu 37 8 77767533 77767533 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 77767533 77767533 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.8376 p.G2792 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 53 0 0 48 4 7.69231 ALG1L13P 0 genome.wustl.edu 37 8 8093621 8093621 + RNA SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 8093621 8093621 C G SNP ALG1L13P ENST00000518201 human ensembl 74_37 -1 known rna NULL NULL 0.491 - - - no_errors ALG1L13P HGNC ENSG00000253981 47 0 0 36 10 21.7391 CA3 0 genome.wustl.edu 37 8 86358436 86358436 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 86358436 86358436 G T SNP CA3 ENST00000285381 human ensembl 74_37 +1 known missense c.573 p.W191C 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA3 HGNC ENSG00000164879 31 0 0 47 5 9.61538 PSKH2 0 genome.wustl.edu 37 8 87076656 87076656 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 87076656 87076656 C A SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known missense c.390 p.E130D 0.777 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 87 0 0 76 20 20.8333 DCAF4L2 0 genome.wustl.edu 37 8 88885901 88885901 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 88885901 88885901 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.299 p.G100D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 166 0 0 134 23 14.6497 DECR1 0 genome.wustl.edu 37 8 91013752 91013752 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 91013752 91013752 T G SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known missense c.32 p.L11R 0.001 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 39 0 0 37 14 27.451 ESRP1 0 genome.wustl.edu 37 8 95680402 95680402 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 95680402 95680402 C T SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1157 p.A386V 1.000 smart_RRM_dom,pfscan_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 50 0 0 55 18 24.6575 GDF6 0 genome.wustl.edu 37 8 97172764 97172764 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 97172764 97172764 G A SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.157 p.R53W 0.977 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 121 0 0 197 41 17.2269 POP1 0 genome.wustl.edu 37 8 99139937 99139937 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 99139937 99139937 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.257 p.G86E 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 89 0 0 106 22 17.1875 C9orf156 0 genome.wustl.edu 37 9 100675785 100675785 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 100675785 100675785 G A SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known missense c.307 p.P103S 1.000 pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 65 0 0 47 4 7.84314 COL15A1 0 genome.wustl.edu 37 9 101831994 101831994 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 101831994 101831994 C T SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known silent c.3993 p.G1331 0.023 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 221 0 0 148 56 27.451 INVS 0 genome.wustl.edu 37 9 103002492 103002492 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 103002492 103002492 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known nonsense c.766 p.R256* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 52 0 0 59 4 6.34921 TAL2 0 genome.wustl.edu 37 9 108424944 108424944 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 108424944 108424944 A G SNP TAL2 ENST00000334077 human ensembl 74_37 +1 known missense c.167 p.K56R 1.000 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL2 HGNC ENSG00000186051 73 0 0 55 26 32.0988 RAD23B 0 genome.wustl.edu 37 9 110081129 110081129 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 110081129 110081129 A G SNP RAD23B ENST00000358015 human ensembl 74_37 +1 known missense c.650 p.N217S 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 75 0 0 74 5 6.32911 KLF4 0 genome.wustl.edu 37 9 110249387 110249387 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 110249387 110249387 G T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.1186 p.H396N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 175 1 0.568182 137 8 5.51724 ACTL7B 0 genome.wustl.edu 37 9 111618106 111618106 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 111618106 111618106 C T SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.105 p.A35 0.000 NULL pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 144 0 0 102 35 25.5474 TMEM245 0 genome.wustl.edu 37 9 111853321 111853321 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 111853321 111853321 G A SNP TMEM245 ENST00000374586 human ensembl 74_37 -1 known missense c.1031 p.T344M 0.104 NULL pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 63 0 0 30 14 31.8182 EPB41L4B 0 genome.wustl.edu 37 9 111938872 111938872 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 111938872 111938872 C T SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known silent c.2592 p.Q864 0.998 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 83 0 0 63 4 5.97015 KIAA0368 0 genome.wustl.edu 37 9 114176903 114176903 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 114176903 114176903 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.2327 p.A776V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 97 0 0 101 7 6.48148 KIAA0368 0 genome.wustl.edu 37 9 114246942 114246942 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 114246942 114246942 C T SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.84 p.R28 0.000 NULL superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 87 0 0 69 25 26.5957 ZNF618 0 genome.wustl.edu 37 9 116764290 116764290 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 116764290 116764290 G A SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.448 p.G150R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 160 0 0 86 45 34.3511 TNC 0 genome.wustl.edu 37 9 117852842 117852842 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 117852842 117852842 T C SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.456 p.T152 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 156 0 0 147 13 8.125 ASTN2 0 genome.wustl.edu 37 9 119568031 119568031 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 119568031 119568031 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2276 p.G759D 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 175 0 0 129 46 26.2857 ASTN2 0 genome.wustl.edu 37 9 120053790 120053790 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 120053790 120053790 T A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.445 p.M149L 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 67 0 0 49 7 12.5 CDK5RAP2 0 genome.wustl.edu 37 9 123210316 123210316 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 123210316 123210316 A G SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2882 p.V961A 0.020 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 107 0 0 64 30 31.9149 NDUFA8 0 genome.wustl.edu 37 9 124906542 124906542 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 124906542 124906542 C T SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known missense c.497 p.R166H 0.921 NULL pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 70 0 0 55 4 6.77966 LURAP1L 0 genome.wustl.edu 37 9 12775777 12775777 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 12775777 12775777 C T SNP LURAP1L ENST00000319264 human ensembl 74_37 +1 known silent c.63 p.P21 0.993 NULL NULL - no_errors LURAP1L HGNC ENSG00000153714 28 0 0 44 4 8.33333 HSPA5 0 genome.wustl.edu 37 9 128001585 128001585 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 128001585 128001585 G T SNP HSPA5 ENST00000324460 human ensembl 74_37 -1 known missense c.631 p.L211M 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 51 0 0 67 8 10.6667 MAPKAP1 0 genome.wustl.edu 37 9 128268684 128268684 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 128268684 128268684 C T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.971 p.R324H 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 76 0 0 36 19 34.5455 ZBTB43 0 genome.wustl.edu 37 9 129595386 129595386 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 129595386 129595386 T C SNP ZBTB43 ENST00000373457 human ensembl 74_37 +1 known missense c.598 p.S200P 0.989 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 61 0 0 42 6 12.5 RALGPS1 0 genome.wustl.edu 37 9 129931002 129931002 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 129931002 129931002 G A SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known missense c.793 p.V265I 0.998 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 132 0 0 78 33 29.7297 GARNL3 0 genome.wustl.edu 37 9 130097540 130097540 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 130097540 130097540 T C SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known silent c.801 p.T267 0.992 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 80 0 0 56 22 28.2051 FAM129B 0 genome.wustl.edu 37 9 130279403 130279403 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 130279403 130279403 C T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known silent c.798 p.R266 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 62 0 0 64 8 11.1111 SH2D3C 0 genome.wustl.edu 37 9 130502625 130502625 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 130502625 130502625 C T SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known nonsense c.2112 p.W704* 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 52 0 0 40 14 25.9259 FPGS 0 genome.wustl.edu 37 9 130566958 130566958 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 130566958 130566958 G A SNP FPGS ENST00000373247 human ensembl 74_37 +1 known missense c.365 p.G122D 1.000 superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 138 0 0 98 15 13.2743 ST6GALNAC4 0 genome.wustl.edu 37 9 130674628 130674628 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 130674628 130674628 G T SNP ST6GALNAC4 ENST00000335791 human ensembl 74_37 -1 known missense c.530 p.P177H 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC4 HGNC ENSG00000136840 83 0 0 100 12 10.7143 LCN2 0 genome.wustl.edu 37 9 130913932 130913932 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 130913932 130913932 C A SNP LCN2 ENST00000372998 human ensembl 74_37 +1 known missense c.297 p.D99E 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 54 0 0 43 13 23.2143 ZDHHC12 0 genome.wustl.edu 37 9 131483604 131483604 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 131483604 131483604 G A SNP ZDHHC12 ENST00000372663 human ensembl 74_37 -1 known silent c.660 p.I220 0.936 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC12 HGNC ENSG00000160446 13 0 0 14 8 36.3636 TBC1D13 0 genome.wustl.edu 37 9 131559379 131559379 + Nonsense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 131559379 131559379 C G SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known nonsense c.429 p.Y143* 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 148 0 0 125 8 6.01504 NUP188 0 genome.wustl.edu 37 9 131755449 131755449 + RNA SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 131755449 131755449 A G SNP NUP188 ENST00000467044 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NUP188 HGNC ENSG00000095319 57 0 0 38 14 26.9231 FAM73B 0 genome.wustl.edu 37 9 131804718 131804718 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 131804718 131804718 G A SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.232 p.E78K 0.995 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 23 0 0 22 6 21.4286 C9orf50 0 genome.wustl.edu 37 9 132375722 132375722 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 132375722 132375722 G A SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known silent c.1035 p.C345 0.000 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 51 0 0 42 21 33.3333 TOR1A 0 genome.wustl.edu 37 9 132576385 132576385 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 132576385 132576385 C A SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.865 p.G289C 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 154 0 0 82 29 26.1261 USP20 0 genome.wustl.edu 37 9 132636012 132636012 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 132636012 132636012 C T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1729 p.R577W 0.959 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 154 0 0 101 45 30.8219 NCS1 0 genome.wustl.edu 37 9 132988754 132988754 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 132988754 132988754 C T SNP NCS1 ENST00000372398 human ensembl 74_37 +1 known silent c.561 p.D187 0.788 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCS1 HGNC ENSG00000107130 38 0 0 24 12 33.3333 NTNG2 0 genome.wustl.edu 37 9 135073834 135073834 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135073834 135073834 A G SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.695 p.N232S 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 132 0 0 141 10 6.62252 NTNG2 0 genome.wustl.edu 37 9 135073887 135073887 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135073887 135073887 A G SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.748 p.T250A 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 158 0 0 138 8 5.47945 SETX 0 genome.wustl.edu 37 9 135140338 135140338 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135140338 135140338 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.7409 p.A2470V 1.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 75 0 0 65 6 8.4507 TTF1 0 genome.wustl.edu 37 9 135278107 135278107 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135278107 135278107 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known silent c.102 p.H34 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 60 0 0 29 12 29.2683 DDX31 0 genome.wustl.edu 37 9 135487486 135487486 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135487486 135487486 G T SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.2297 p.A766E 0.010 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 94 0 0 63 16 20.2532 DDX31 0 genome.wustl.edu 37 9 135521418 135521418 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135521418 135521418 C T SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.1559 p.C520Y 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 42 0 0 28 10 26.3158 DDX31 0 genome.wustl.edu 37 9 135522215 135522215 + Missense_Mutation SNP A A C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135522215 135522215 A C SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.1513 p.C505G 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 111 0 0 93 34 26.7717 RALGDS 0 genome.wustl.edu 37 9 135974017 135974017 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135974017 135974017 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.2915 p.R972H 0.994 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 52 0 0 51 3 5.55556 SLC2A6 0 genome.wustl.edu 37 9 136339174 136339174 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 136339174 136339174 G A SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known missense c.964 p.R322W 0.995 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 32 0 0 25 7 21.875 SARDH 0 genome.wustl.edu 37 9 136550366 136550366 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 136550366 136550366 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.2112 p.N704 0.942 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 45 0 0 24 7 22.5806 CAMSAP1 0 genome.wustl.edu 37 9 138710921 138710921 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 138710921 138710921 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known silent c.3927 p.A1309 0.474 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 26 0 0 16 4 20 INPP5E 0 genome.wustl.edu 37 9 139329213 139329213 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 139329213 139329213 G T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known silent c.915 p.T305 0.978 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 31 0 0 27 8 22.8571 SEC16A 0 genome.wustl.edu 37 9 139336107 139336107 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 139336107 139336107 G A SNP SEC16A ENST00000467838 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEC16A HGNC ENSG00000148396 21 0 0 9 3 25 FAM69B 0 genome.wustl.edu 37 9 139616653 139616653 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 139616653 139616653 G A SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.383 p.R128Q 0.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 65 0 0 55 19 25.6757 ABCA2 0 genome.wustl.edu 37 9 139903482 139903482 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 139903482 139903482 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.6851 p.T2284M 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 34 0 0 40 7 14.8936 ABCA2 0 genome.wustl.edu 37 9 139912071 139912071 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 139912071 139912071 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.2285 p.S762F 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 112 0 0 106 10 8.62069 MAN1B1 0 genome.wustl.edu 37 9 140000573 140000573 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 140000573 140000573 G A SNP MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MAN1B1 HGNC ENSG00000177239 24 0 0 18 6 25 GRIN1 0 genome.wustl.edu 37 9 140059732 140059732 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 140059732 140059732 G T SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.2684 p.R895M 1.000 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 133 0 0 83 26 23.8532 NSMF 0 genome.wustl.edu 37 9 140352211 140352211 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 140352211 140352211 G A SNP NSMF ENST00000371475 human ensembl 74_37 -1 known silent c.276 p.P92 0.001 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 13 0 0 12 2 14.2857 NSMF 0 genome.wustl.edu 37 9 140352310 140352310 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 140352310 140352310 G A SNP NSMF ENST00000371475 human ensembl 74_37 -1 known silent c.177 p.P59 0.944 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 14 0 0 4 3 42.8571 ZMYND19 0 genome.wustl.edu 37 9 140477029 140477029 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 140477029 140477029 C T SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known missense c.650 p.R217H 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 84 0 0 60 25 29.4118 SNAPC3 0 genome.wustl.edu 37 9 15423075 15423075 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 15423075 15423075 G A SNP SNAPC3 ENST00000380821 human ensembl 74_37 +1 known silent c.198 p.P66 0.021 NULL pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC ENSG00000164975 22 0 0 19 7 26.9231 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 111 0 0 111 7 5.9322 BNC2 0 genome.wustl.edu 37 9 16419430 16419430 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 16419430 16419430 T C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2857 p.M953V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 65 0 0 64 19 22.8916 BNC2 0 genome.wustl.edu 37 9 16436043 16436043 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 16436043 16436043 C T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2149 p.E717K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 87 0 0 74 7 8.64198 IFNA6 0 genome.wustl.edu 37 9 21350820 21350820 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 21350820 21350820 C T SNP IFNA6 ENST00000380210 human ensembl 74_37 -1 known missense c.67 p.D23N 0.902 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA6 HGNC ENSG00000120235 136 0 0 105 12 10.2564 CDKN2A 0 genome.wustl.edu 37 9 21971139 21971139 + Silent SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 21971139 21971139 G T SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known silent c.385 p.R129 0.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 29 0 0 27 4 12.9032 FLJ35282 0 genome.wustl.edu 37 9 22823336 22823336 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 22823336 22823336 G A SNP FLJ35282 ENST00000436786 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-399D6.2 Clone_based_vega_gene ENSG00000234840 34 0 0 10 6 37.5 IFT74 0 genome.wustl.edu 37 9 26984558 26984558 + Splice_Site SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 26984558 26984558 G A SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known splice_site c.465+1 e5+1 1.000 - - - no_errors IFT74 HGNC ENSG00000096872 83 0 0 56 4 6.66667 KCNV2 0 genome.wustl.edu 37 9 2718054 2718054 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 2718054 2718054 C T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known silent c.315 p.G105 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 17 0 0 16 5 23.8095 BAG1 0 genome.wustl.edu 37 9 33264393 33264393 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 33264393 33264393 G T SNP BAG1 ENST00000472232 human ensembl 74_37 -1 known missense c.280 p.L94M 0.058 NULL pfam_BAG_domain,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup - no_errors BAG1 HGNC ENSG00000107262 91 0 0 50 24 32.4324 AQP3 0 genome.wustl.edu 37 9 33441871 33441871 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 33441871 33441871 G A SNP AQP3 ENST00000493581 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors AQP3 HGNC ENSG00000165272 31 0 0 25 5 16.6667 NOL6 0 genome.wustl.edu 37 9 33465247 33465247 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 33465247 33465247 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.2639 p.A880V 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 12 0 0 9 2 18.1818 NOL6 0 genome.wustl.edu 37 9 33466935 33466935 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 33466935 33466935 T C SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.1925 p.D642G 0.997 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 437 0 0 343 20 5.50964 UBAP2 0 genome.wustl.edu 37 9 33996172 33996172 + RNA SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 33996172 33996172 C T SNP UBAP2 ENST00000480885 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UBAP2 HGNC ENSG00000137073 32 0 0 22 10 31.25 KIAA1161 0 genome.wustl.edu 37 9 34372003 34372003 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 34372003 34372003 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.837 p.F279 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 79 0 0 66 7 9.58904 FAM219A 0 genome.wustl.edu 37 9 34400994 34400994 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 34400994 34400994 C T SNP FAM219A ENST00000445726 human ensembl 74_37 -1 known missense c.526 p.A176T 1.000 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 42 0 0 45 5 10 TESK1 0 genome.wustl.edu 37 9 35606933 35606933 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 35606933 35606933 C T SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.490 p.R164W 0.989 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 43 0 0 43 11 20.3704 TPM2 0 genome.wustl.edu 37 9 35685730 35685730 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 35685730 35685730 C T SNP TPM2 ENST00000360958 human ensembl 74_37 -1 known silent c.288 p.E96 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 105 0 0 83 19 18.6275 FBXO10 0 genome.wustl.edu 37 9 37516037 37516037 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 37516037 37516037 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.2560 p.V854M 0.964 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 61 0 0 47 17 26.5625 SPATA31A1 0 genome.wustl.edu 37 9 39361133 39361133 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 39361133 39361133 G T SNP SPATA31A1 ENST00000377647 human ensembl 74_37 +1 known missense c.3371 p.R1124M 0.000 NULL NULL - no_errors SPATA31A1 HGNC ENSG00000204849 119 0 0 72 25 25.7732 JAK2 0 genome.wustl.edu 37 9 5077560 5077560 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 5077560 5077560 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.1972 p.A658T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 31 0 0 13 8 38.0952 INSL6 0 genome.wustl.edu 37 9 5185415 5185415 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 5185415 5185415 C A SNP INSL6 ENST00000381641 human ensembl 74_37 -1 known missense c.188 p.R63L 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 - no_errors INSL6 HGNC ENSG00000120210 128 0 0 129 9 6.52174 RLN1 0 genome.wustl.edu 37 9 5339739 5339739 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 5339739 5339739 C T SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known missense c.8 p.R3H 0.000 NULL pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 97 0 0 53 24 31.1688 KIAA1432 0 genome.wustl.edu 37 9 5743013 5743013 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 5743013 5743013 C T SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known missense c.809 p.A270V 1.000 superfamily_WD40_repeat_dom pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 39 0 0 34 15 30.6122 SPATA31A7 0 genome.wustl.edu 37 9 65506267 65506267 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 65506267 65506267 G A SNP SPATA31A7 ENST00000355045 human ensembl 74_37 -1 known silent c.1293 p.A431 0.004 NULL NULL - no_errors SPATA31A7 HGNC ENSG00000234734 15 0 0 17 8 32 LOC100996870 0 genome.wustl.edu 37 9 66459891 66459891 + RNA SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 66459891 66459891 T G SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 24 0 0 20 2 9.09091 CBWD6 0 genome.wustl.edu 37 9 69247573 69247573 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 69247573 69247573 C T SNP CBWD6 ENST00000377457 human ensembl 74_37 -1 known missense c.439 p.A147T 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD6 HGNC ENSG00000204790 19 0 0 25 3 10.7143 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 46 0 0 82 14 14.5833 KANK1 0 genome.wustl.edu 37 9 712285 712285 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 712285 712285 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1519 p.A507T 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 59 0 0 49 21 30 TJP2 0 genome.wustl.edu 37 9 71827467 71827467 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 71827467 71827467 C A SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.157 p.P53T 1.000 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 62 0 0 56 12 17.6471 TRPM3 0 genome.wustl.edu 37 9 73253991 73253991 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 73253991 73253991 C A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.1647 p.E549D 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 79 0 0 56 17 23.2877 RORB 0 genome.wustl.edu 37 9 77112896 77112896 + Nonsense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 77112896 77112896 C T SNP RORB ENST00000376896 human ensembl 74_37 +1 known nonsense c.4 p.R2* 1.000 NULL 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_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORB HGNC ENSG00000198963 22 0 0 28 4 12.5 FOXB2 0 genome.wustl.edu 37 9 79634656 79634656 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 79634656 79634656 C T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known missense c.86 p.S29L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 50 0 0 55 4 6.77966 VPS13A 0 genome.wustl.edu 37 9 79853296 79853296 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 79853296 79853296 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.1894 p.A632T 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 43 0 0 27 9 25 PSAT1 0 genome.wustl.edu 37 9 80923424 80923424 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 80923424 80923424 G A SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.665 p.R222Q 0.218 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 62 0 0 49 20 28.9855 PTPRD 0 genome.wustl.edu 37 9 8633359 8633359 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 8633359 8633359 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.310 p.V104M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 89 0 0 59 18 23.3766 KIF27 0 genome.wustl.edu 37 9 86503402 86503402 + Splice_Site SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 86503402 86503402 A G SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known splice_site c.2083+2 e7+2 0.991 - - - no_errors KIF27 HGNC ENSG00000165115 28 0 0 17 9 34.6154 NTRK2 0 genome.wustl.edu 37 9 87570335 87570335 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 87570335 87570335 A T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.2075 p.D692V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 50 0 0 37 14 27.451 AGTPBP1 0 genome.wustl.edu 37 9 88200387 88200387 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 88200387 88200387 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.3192 p.T1064 0.124 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 97 0 0 76 7 8.43373 GAS1 0 genome.wustl.edu 37 9 89561023 89561023 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 89561023 89561023 G A SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known silent c.672 p.C224 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 30 0 0 41 4 8.88889 C9orf170 0 genome.wustl.edu 37 9 89763793 89763793 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 89763793 89763793 G A SNP C9orf170 ENST00000375941 human ensembl 74_37 +1 known missense c.148 p.G50S 0.000 NULL NULL - no_errors C9orf170 HGNC ENSG00000204446 57 0 0 59 6 9.23077 SYK 0 genome.wustl.edu 37 9 93636994 93636994 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 93636994 93636994 C T SNP SYK ENST00000375746 human ensembl 74_37 +1 known silent c.1044 p.Y348 0.225 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 324 0 0 219 80 26.7559 ROR2 0 genome.wustl.edu 37 9 94487188 94487188 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 94487188 94487188 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1588 p.R530W 0.006 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 143 0 0 77 28 26.6667 PHF2 0 genome.wustl.edu 37 9 96422621 96422621 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 96422621 96422621 A G SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1477 p.T493A 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 18 0 0 12 3 20 PHF2 0 genome.wustl.edu 37 9 96422642 96422642 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 96422642 96422642 C A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1498 p.P500T 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 14 0 0 9 3 25 BARX1 0 genome.wustl.edu 37 9 96715034 96715034 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 96715034 96715034 G A SNP BARX1 ENST00000253968 human ensembl 74_37 -1 known missense c.577 p.R193W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC ENSG00000131668 81 0 0 44 19 30.1587 NUTM2F 0 genome.wustl.edu 37 9 97082708 97082708 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 97082708 97082708 T C SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.1150 p.T384A 0.049 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 143 0 0 86 30 25.8621 C9orf3 0 genome.wustl.edu 37 9 97563164 97563164 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 97563164 97563164 C T SNP C9orf3 ENST00000375315 human ensembl 74_37 +1 known missense c.1244 p.T415I 0.992 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 70 0 0 47 18 27.6923 ZNF367 0 genome.wustl.edu 37 9 99150737 99150737 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 99150737 99150737 A G SNP ZNF367 ENST00000375256 human ensembl 74_37 -1 known missense c.835 p.W279R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF367 HGNC ENSG00000165244 70 0 0 52 17 24.6377 ZNF367 0 genome.wustl.edu 37 9 99160514 99160514 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 99160514 99160514 C T SNP ZNF367 ENST00000375256 human ensembl 74_37 -1 known missense c.503 p.R168H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF367 HGNC ENSG00000165244 174 0 0 117 36 23.5294 CDC14B 0 genome.wustl.edu 37 9 99380896 99380896 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 99380896 99380896 G A SNP CDC14B ENST00000463547 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDC14B HGNC ENSG00000081377 104 0 0 84 31 26.9565 HNRNPH2 0 genome.wustl.edu 37 X 100667961 100667961 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 100667961 100667961 G A SNP HNRNPH2 ENST00000316594 human ensembl 74_37 +1 known missense c.985 p.G329S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 86 0 0 75 9 10.7143 WWC3 0 genome.wustl.edu 37 X 10090659 10090659 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 10090659 10090659 C A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.1631 p.T544K 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 276 0 0 202 21 9.41704 ARMCX2 0 genome.wustl.edu 37 X 100911457 100911457 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 100911457 100911457 C T SNP ARMCX2 ENST00000328766 human ensembl 74_37 -1 known missense c.1118 p.R373H 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ENSG00000184867 54 0 0 24 22 47.8261 ARMCX2 0 genome.wustl.edu 37 X 100912607 100912607 + RNA SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 100912607 100912607 G A SNP ARMCX2 ENST00000467416 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARMCX2 HGNC ENSG00000184867 62 0 0 44 10 18.5185 TCEAL3 0 genome.wustl.edu 37 X 102864035 102864035 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 102864035 102864035 G A SNP TCEAL3 ENST00000243286 human ensembl 74_37 +1 known missense c.43 p.E15K 0.002 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC ENSG00000196507 24 0 0 4 11 73.3333 ZCCHC18 0 genome.wustl.edu 37 X 103359145 103359145 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 103359145 103359145 C T SNP ZCCHC18 ENST00000537356 human ensembl 74_37 +1 putative missense c.343 p.R115W 0.001 NULL superfamily_Znf_CCHC - no_errors ZCCHC18 HGNC ENSG00000166707 58 0 0 31 27 46.5517 PRPS1 0 genome.wustl.edu 37 X 106888571 106888571 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 106888571 106888571 C T SNP PRPS1 ENST00000372435 human ensembl 74_37 +1 known missense c.695 p.A232V 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS1 HGNC ENSG00000147224 113 0 0 31 56 64.3678 COL4A5 0 genome.wustl.edu 37 X 107783022 107783022 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 107783022 107783022 T C SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.128 p.I43T 0.702 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 54 0 0 29 15 34.0909 COL4A5 0 genome.wustl.edu 37 X 107834414 107834414 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 107834414 107834414 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.1292 p.P431L 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 59 0 0 65 8 10.9589 COL4A5 0 genome.wustl.edu 37 X 107938146 107938146 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 107938146 107938146 A G SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4816 p.M1606V 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 31 0 0 16 20 55.5556 LUZP4 0 genome.wustl.edu 37 X 114524366 114524366 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 114524366 114524366 C T SNP LUZP4 ENST00000371920 human ensembl 74_37 +1 known missense c.41 p.P14L 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 32 0 0 6 18 75 TMEM255A 0 genome.wustl.edu 37 X 119394878 119394878 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 119394878 119394878 G A SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known silent c.897 p.S299 0.993 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 42 0 0 17 20 54.0541 TENM1 0 genome.wustl.edu 37 X 123839039 123839039 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 123839039 123839039 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.839 p.Y280C 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 105 1 0.943396 70 25 26.3158 DCAF12L2 0 genome.wustl.edu 37 X 125298773 125298773 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 125298773 125298773 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1135 p.A379T 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 75 0 0 44 41 48.2353 DCAF12L2 0 genome.wustl.edu 37 X 125299138 125299138 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 125299138 125299138 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.770 p.S257N 0.002 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 31 0 0 38 4 9.52381 ELF4 0 genome.wustl.edu 37 X 129205114 129205114 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 129205114 129205114 C T SNP ELF4 ENST00000308167 human ensembl 74_37 -1 known missense c.710 p.G237D 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 91 0 0 84 8 8.69565 IGSF1 0 genome.wustl.edu 37 X 130411032 130411032 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 130411032 130411032 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.2504 p.S835N 0.159 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 281 0 0 200 31 13.4199 IGSF1 0 genome.wustl.edu 37 X 130411957 130411957 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 130411957 130411957 T G SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.2208 p.R736S 0.994 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 30 0 0 21 14 40 PHF6 0 genome.wustl.edu 37 X 133547614 133547614 + Missense_Mutation SNP A A T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 133547614 133547614 A T SNP PHF6 ENST00000394292 human ensembl 74_37 +1 known missense c.515 p.N172I 0.870 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 81 0 0 42 39 48.1481 SAGE1 0 genome.wustl.edu 37 X 134983781 134983781 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 134983781 134983781 A G SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.151 p.R51G 0.013 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 109 0 0 97 9 8.49057 SLC9A6 0 genome.wustl.edu 37 X 135080303 135080303 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 135080303 135080303 C T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known missense c.562 p.L188F 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 26 0 0 10 9 47.3684 MAP7D3 0 genome.wustl.edu 37 X 135313015 135313015 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 135313015 135313015 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.1470 p.P490 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 57 0 0 32 24 42.8571 GPR112 0 genome.wustl.edu 37 X 135429585 135429585 + Missense_Mutation SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 135429585 135429585 C A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.3720 p.H1240Q 0.003 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 105 0 0 45 37 45.122 AFF2 0 genome.wustl.edu 37 X 147744112 147744112 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 147744112 147744112 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.864 p.Y288 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 68 0 0 35 29 45.3125 MOSPD2 0 genome.wustl.edu 37 X 14927024 14927024 + Missense_Mutation SNP T T A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 14927024 14927024 T A SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known missense c.620 p.V207E 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 80 0 0 62 24 27.907 GABRQ 0 genome.wustl.edu 37 X 151821168 151821168 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 151821168 151821168 G T SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.1323 p.Q441H 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 68 0 0 28 38 57.5758 MAGEA6 0 genome.wustl.edu 37 X 151870218 151870218 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 151870218 151870218 T C SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known missense c.908 p.L303P 0.001 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 118 0 0 73 10 12.0482 MAGEA6 0 genome.wustl.edu 37 X 151870233 151870233 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 151870233 151870233 C T SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known missense c.923 p.A308V 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 114 0 0 63 9 12.5 MAGEA3 0 genome.wustl.edu 37 X 151935274 151935274 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 151935274 151935274 T C SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.893 p.H298R 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 144 0 0 125 16 11.3475 ATP2B3 0 genome.wustl.edu 37 X 152821867 152821867 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 152821867 152821867 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.2317 p.L773 0.989 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 12 0 0 5 9 64.2857 ATP2B3 0 genome.wustl.edu 37 X 152825264 152825264 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 152825264 152825264 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.2703 p.T901 0.013 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 72 0 0 20 27 57.4468 SSR4 0 genome.wustl.edu 37 X 153063257 153063257 + Missense_Mutation SNP C C G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153063257 153063257 C G SNP SSR4 ENST00000320857 human ensembl 74_37 +1 known missense c.339 p.S113R 0.996 pfam_TRAP-delta pfam_TRAP-delta - no_errors SSR4 HGNC ENSG00000180879 10 0 0 5 8 61.5385 HCFC1 0 genome.wustl.edu 37 X 153221775 153221775 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153221775 153221775 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.2723 p.T908M 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 97 0 0 97 11 10.1852 HCFC1 0 genome.wustl.edu 37 X 153228738 153228738 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153228738 153228738 T C SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.650 p.K217R 1.000 pfam_Kelch_2 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 113 0 0 92 10 9.80392 MECP2 0 genome.wustl.edu 37 X 153295823 153295823 + Missense_Mutation SNP T T G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153295823 153295823 T G SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.1456 p.S486R 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 136 0 0 35 95 73.0769 FLNA 0 genome.wustl.edu 37 X 153592413 153592413 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153592413 153592413 T C SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.2257 p.S753G 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 81 0 0 57 21 26.9231 FLNA 0 genome.wustl.edu 37 X 153596065 153596065 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153596065 153596065 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.664 p.V222I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 92 0 0 27 34 55.7377 SNORA70 0 genome.wustl.edu 37 X 153628649 153628649 + RNA SNP C C A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153628649 153628649 C A SNP SNORA70 ENST00000384436 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORA70 HGNC ENSG00000207165 65 0 0 42 9 17.6471 ASMTL 0 genome.wustl.edu 37 X 1546685 1546685 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 1546685 1546685 G A SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.839 p.T280I 0.017 NULL pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 128 0 0 114 9 7.31707 ZBED1 0 genome.wustl.edu 37 X 2406791 2406791 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 2406791 2406791 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.1970 p.A657V 0.071 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 204 0 0 108 52 32.5 MAGEB6 0 genome.wustl.edu 37 X 26212500 26212500 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 26212500 26212500 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known silent c.537 p.S179 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 56 0 0 21 20 48.7805 DCAF8L1 0 genome.wustl.edu 37 X 27998107 27998107 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 27998107 27998107 G A SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.1345 p.R449W 0.933 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 13 0 0 6 9 60 IL1RAPL1 0 genome.wustl.edu 37 X 29973751 29973751 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 29973751 29973751 C T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.1905 p.T635 0.108 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 12 0 0 9 13 59.0909 GPR34 0 genome.wustl.edu 37 X 41554898 41554898 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 41554898 41554898 T C SNP GPR34 ENST00000378138 human ensembl 74_37 +1 known silent c.12 p.H4 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR34 HGNC ENSG00000171659 41 0 0 9 25 73.5294 SLC9A7 0 genome.wustl.edu 37 X 46521972 46521972 + Splice_Site SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 46521972 46521972 C T SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known splice_site c.899+1 e6+1 1.000 - - - no_errors SLC9A7 HGNC ENSG00000065923 17 0 0 8 8 50 UBA1 0 genome.wustl.edu 37 X 47062550 47062550 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 47062550 47062550 C T SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known silent c.1356 p.D452 0.997 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 48 0 0 37 7 15.9091 ARAF 0 genome.wustl.edu 37 X 47426715 47426715 + Silent SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 47426715 47426715 G A SNP ARAF ENST00000377045 human ensembl 74_37 +1 known silent c.960 p.S320 0.959 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 13 0 0 6 14 70 SSX1 0 genome.wustl.edu 37 X 48123236 48123236 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 48123236 48123236 C T SNP SSX1 ENST00000376919 human ensembl 74_37 +1 known missense c.350 p.A117V 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX1 HGNC ENSG00000126752 127 0 0 50 75 60 KCND1 0 genome.wustl.edu 37 X 48823397 48823397 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 48823397 48823397 C T SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.1238 p.R413H 1.000 prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 34 0 0 31 3 8.82353 GPKOW 0 genome.wustl.edu 37 X 48979945 48979945 + Missense_Mutation SNP G G T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 48979945 48979945 G T SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known missense c.128 p.P43Q 0.412 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 17 0 0 8 3 27.2727 MAGED1 0 genome.wustl.edu 37 X 51639617 51639617 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 51639617 51639617 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1034 p.G345D 0.528 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 19 0 0 12 18 60 HUWE1 0 genome.wustl.edu 37 X 53575080 53575080 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 53575080 53575080 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10190 p.N3397S 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 20 0 0 9 3 25 TRO 0 genome.wustl.edu 37 X 54957418 54957418 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 54957418 54957418 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.4261 p.A1421T 0.068 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 31 0 0 13 15 53.5714 APEX2 0 genome.wustl.edu 37 X 55028042 55028042 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 55028042 55028042 G A SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known missense c.221 p.R74H 0.986 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 12 0 0 8 5 38.4615 ZXDA 0 genome.wustl.edu 37 X 57935808 57935808 + Silent SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 57935808 57935808 C T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known silent c.1047 p.A349 0.346 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 54 0 0 36 6 14.2857 HEPH 0 genome.wustl.edu 37 X 65412069 65412069 + Silent SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 65412069 65412069 T C SNP HEPH ENST00000519389 human ensembl 74_37 +1 known silent c.1323 p.H441 0.988 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 37 0 0 32 5 13.5135 PJA1 0 genome.wustl.edu 37 X 68382235 68382235 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 68382235 68382235 T C SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.847 p.M283V 0.087 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 49 0 0 15 8 34.7826 FAM155B 0 genome.wustl.edu 37 X 68725856 68725856 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 68725856 68725856 G A SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known missense c.731 p.S244N 0.999 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 21 0 0 11 18 62.069 NHSL2 0 genome.wustl.edu 37 X 71359622 71359622 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 71359622 71359622 G A SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2224 p.V742I 0.542 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 66 0 0 52 9 14.7541 CITED1 0 genome.wustl.edu 37 X 71522039 71522039 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 71522039 71522039 C T SNP CITED1 ENST00000431381 human ensembl 74_37 -1 known missense c.194 p.R65H 0.637 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 10 0 0 0 6 100 ATRX 0 genome.wustl.edu 37 X 76938181 76938181 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 76938181 76938181 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.2567 p.S856N 0.029 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 168 0 0 124 13 9.48905 P2RY10 0 genome.wustl.edu 37 X 78216846 78216846 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 78216846 78216846 T C SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.829 p.C277R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 87 0 0 40 34 45.9459 CHM 0 genome.wustl.edu 37 X 85213976 85213976 + Missense_Mutation SNP A A G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 85213976 85213976 A G SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.709 p.Y237H 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 25 0 0 20 4 16.6667 TBL1X 0 genome.wustl.edu 37 X 9679787 9679787 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 9679787 9679787 G A SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.1576 p.D526N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 43 0 0 16 22 57.8947 USP9Y 0 genome.wustl.edu 37 Y 14837085 14837085 + Missense_Mutation SNP G G A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c Y 14837085 14837085 G A SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.365 p.R122Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 46 0 0 23 8 25.8065 NLGN4Y 0 genome.wustl.edu 37 Y 16952313 16952313 + Missense_Mutation SNP C C T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c Y 16952313 16952313 C T SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known missense c.1793 p.P598L 1.000 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 47 0 0 36 9 20 SRY 0 genome.wustl.edu 37 Y 2655595 2655595 + Missense_Mutation SNP T T C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c Y 2655595 2655595 T C SNP SRY ENST00000383070 human ensembl 74_37 -1 known missense c.50 p.Y17C 0.980 pirsf_TF_Sry pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_TF_Sry,pfscan_HMG_box_dom - no_errors SRY HGNC ENSG00000184895 29 0 0 27 11 28.9474 KIF1B 0 genome.wustl.edu 37 1 10407870 10407871 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 10407870 10407871 - T INS KIF1B ENST00000263934 human ensembl 74_37 +1 known frame_shift_ins c.3711_3712 p.L1238fs 0.977:1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 83 0 0 71 9 11.25 CEPT1 0 genome.wustl.edu 37 1 111690319 111690320 + RNA INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 111690319 111690320 - A INS CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 39 0 0 22 7 24.1379 HIPK1 0 genome.wustl.edu 37 1 114497345 114497345 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 114497345 114497345 T - DEL HIPK1 ENST00000369558 human ensembl 74_37 +1 known frame_shift_del c.1273 p.F426fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK1 HGNC ENSG00000163349 67 0 0 36 21 36.8421 OLFML3 0 genome.wustl.edu 37 1 114523308 114523309 + RNA INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 114523308 114523309 - T INS OLFML3 ENST00000491700 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors OLFML3 HGNC ENSG00000116774 14 0 0 14 4 22.2222 TRIM33 0 genome.wustl.edu 37 1 114948108 114948110 + In_Frame_Del DEL CTC CTC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 114948108 114948110 CTC - DEL TRIM33 ENST00000358465 human ensembl 74_37 -1 known in_frame_del c.2692_2690 p.G897in_frame_del 1.000:0.995:1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 246 0 0 163 54 24.8848 SYCP1 0 genome.wustl.edu 37 1 115469134 115469134 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 115469134 115469134 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.1876 p.G629fs 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 23 0 0 17 5 22.7273 VANGL1 0 genome.wustl.edu 37 1 116206586 116206586 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 116206586 116206586 T - DEL VANGL1 ENST00000310260 human ensembl 74_37 +1 known frame_shift_del c.509 p.F172fs 0.981 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 114 1 0.869565 92 25 21.3675 MAD2L2 0 genome.wustl.edu 37 1 11735180 11735180 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 11735180 11735180 G - DEL MAD2L2 ENST00000376669 human ensembl 74_37 -1 known frame_shift_del c.592 p.R198fs 1.000 superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L2 HGNC ENSG00000116670 92 0 0 54 13 19.403 VPS13D 0 genome.wustl.edu 37 1 12339611 12339612 + Frame_Shift_Del DEL AG AG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 12339611 12339612 AG - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.4506_4507 p.E1505fs 0.939:1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 39 0 0 37 8 17.7778 VPS13D 0 genome.wustl.edu 37 1 12364661 12364662 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 12364661 12364662 - T INS VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_ins c.6315_6316 p.T2106fs 0.957:0.973 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 82 0 0 73 22 23.1579 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 30 0 0 11 21 65.625 VWA1 0 genome.wustl.edu 37 1 1372689 1372689 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 1372689 1372689 C - DEL VWA1 ENST00000476993 human ensembl 74_37 +1 known frame_shift_del c.456 p.M155fs 0.512 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 24 0 0 17 4 19.0476 BCL9 0 genome.wustl.edu 37 1 147091500 147091501 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 147091500 147091501 - C INS BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_ins c.1539_1540 p.P516fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 164 0 0 186 30 13.8889 SF3B4 0 genome.wustl.edu 37 1 149895562 149895562 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 149895562 149895562 G - DEL SF3B4 ENST00000271628 human ensembl 74_37 -1 known frame_shift_del c.1147 p.H383fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 29 0 0 36 9 20 MTMR11 0 genome.wustl.edu 37 1 149900986 149900989 + RNA DEL AAAA AAAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 149900986 149900989 AAAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.001 - - - no_errors MTMR11 HGNC ENSG00000014914 36 0 0 45 23 33.8235 SETDB1 0 genome.wustl.edu 37 1 150917624 150917624 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 150917624 150917624 G - DEL SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_del c.1180 p.G396fs 0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 23 0 0 27 8 22.8571 POGZ 0 genome.wustl.edu 37 1 151378465 151378465 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 151378465 151378465 C - DEL POGZ ENST00000271715 human ensembl 74_37 -1 known frame_shift_del c.3046 p.E1016fs 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 104 0 0 99 18 15.3846 TCHH 0 genome.wustl.edu 37 1 152086556 152086556 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 152086556 152086556 T - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 28 0 0 29 11 27.5 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 121 0 0 136 11 7.48299 UBE2Q1 0 genome.wustl.edu 37 1 154524457 154524458 + Splice_Site INS - - GA TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 154524457 154524458 - GA INS UBE2Q1 ENST00000292211 human ensembl 74_37 -1 known splice_site_ins c.967-3_967-2 e9-2 1.000:0.187 - - - no_errors UBE2Q1 HGNC ENSG00000160714 108 0 0 119 13 9.84848 EFNA3 0 genome.wustl.edu 37 1 155059036 155059036 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155059036 155059036 G - DEL EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 80 0 0 82 21 20.3883 TRIM46 0 genome.wustl.edu 37 1 155154434 155154444 + Frame_Shift_Del DEL GGCTGCTGACC GGCTGCTGACC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GGCTGCTGACC GGCTGCTGACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155154434 155154444 GGCTGCTGACC - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.1695_1705 p.R569fs 1.000:1.000:0.999:0.891:1.000:1.000:0.913:1.000:1.000:0.998:1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 54 0 0 68 8 10.5263 THBS3 0 genome.wustl.edu 37 1 155175014 155175016 + In_Frame_Del DEL AGG AGG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155175014 155175016 AGG - DEL THBS3 ENST00000368378 human ensembl 74_37 -1 known in_frame_del c.380_378 p.L127in_frame_del 1.000:1.000:1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 82 0 0 103 20 16.2602 MTX1 0 genome.wustl.edu 37 1 155178611 155178611 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155178611 155178611 C - DEL MTX1 ENST00000368376 human ensembl 74_37 +1 known frame_shift_del c.16 p.R8fs 0.998 NULL pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like - no_errors MTX1 HGNC ENSG00000173171 28 0 0 19 9 32.1429 ARHGEF2 0 genome.wustl.edu 37 1 155920624 155920624 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 155920624 155920624 G - DEL ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known frame_shift_del c.2702 p.P901fs 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 139 0 0 184 12 6.12245 LAMTOR2 0 genome.wustl.edu 37 1 156024937 156024937 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156024937 156024937 G - DEL LAMTOR2 ENST00000487106 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR2 HGNC ENSG00000116586 74 0 0 80 27 25.2336 CCT3 0 genome.wustl.edu 37 1 156290648 156290648 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156290648 156290648 T - DEL CCT3 ENST00000295688 human ensembl 74_37 -1 known frame_shift_del c.591 p.K197fs 0.995 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 155 0 0 123 25 16.8919 GPATCH4 0 genome.wustl.edu 37 1 156565504 156565504 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156565504 156565504 T - DEL GPATCH4 ENST00000438976 human ensembl 74_37 -1 known frame_shift_del c.629 p.K210fs 0.999 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 112 0 0 72 13 15.2941 HDGF 0 genome.wustl.edu 37 1 156715104 156715104 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 156715104 156715104 A - DEL HDGF ENST00000368206 human ensembl 74_37 -1 known frame_shift_del c.197 p.F66fs 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 35 0 0 52 7 11.8644 SPTA1 0 genome.wustl.edu 37 1 158622327 158622327 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 158622327 158622327 T - DEL SPTA1 ENST00000368147 human ensembl 74_37 -1 known frame_shift_del c.3305 p.K1102fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 86 0 0 108 23 17.5573 ATP1A4 0 genome.wustl.edu 37 1 160134106 160134106 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160134106 160134106 T - DEL ATP1A4 ENST00000368081 human ensembl 74_37 +1 known frame_shift_del c.939 p.F315fs 0.145 pfam_ATPase_P-typ_transduc_dom_A,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 ATP1A4 HGNC ENSG00000132681 244 0 0 218 50 18.6567 SLAMF1 0 genome.wustl.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 160589601 160589601 T - DEL SLAMF1 ENST00000302035 human ensembl 74_37 -1 known frame_shift_del c.829 p.S277fs 0.881 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 163 0 0 193 37 16.087 ARHGAP30 0 genome.wustl.edu 37 1 161021109 161021114 + In_Frame_Del DEL GGGCCA GGGCCA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GGGCCA GGGCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 161021109 161021114 GGGCCA - DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known in_frame_del c.1415_1410 p.GP471in_frame_del 1.000:0.998:0.968:0.997:0.998:0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 62 0 0 76 13 14.6067 UAP1 0 genome.wustl.edu 37 1 162549290 162549290 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 162549290 162549290 A - DEL UAP1 ENST00000271469 human ensembl 74_37 +1 known frame_shift_del c.558 p.E189fs 0.998 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 44 0 0 55 10 15.3846 SPEN 0 genome.wustl.edu 37 1 16260214 16260214 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 16260214 16260214 C - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.7479 p.P2495fs 0.001 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 183 0 0 113 45 28.481 BLZF1 0 genome.wustl.edu 37 1 169351458 169351458 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 169351458 169351458 A - DEL BLZF1 ENST00000329281 human ensembl 74_37 +1 known frame_shift_del c.956 p.K321fs 0.999 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 94 0 0 78 29 27.1028 PRG4 0 genome.wustl.edu 37 1 186277954 186277954 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 186277954 186277954 A - DEL PRG4 ENST00000445192 human ensembl 74_37 +1 known frame_shift_del c.3103 p.K1036fs 0.001 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 161 0 0 89 78 46.7066 ENSG00000230260 0 genome.wustl.edu 37 1 197411573 197411573 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 197411573 197411573 A - DEL ENSG00000230260 ENST00000422250 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-75C23.1 Clone_based_vega_gene ENSG00000230260 13 0 0 14 9 39.1304 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 47 0 0 22 6 21.4286 CAMSAP2 0 genome.wustl.edu 37 1 200822548 200822549 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 200822548 200822549 - A INS CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_ins c.3781_3782 p.Q1264fs 0.998:0.945 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 107 0 0 89 41 31.5385 NAV1 0 genome.wustl.edu 37 1 201777113 201777113 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 201777113 201777113 A - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.3681 p.K1229fs 0.972 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 215 1 0.462963 164 48 22.6415 C4BPB 0 genome.wustl.edu 37 1 207263776 207263776 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 207263776 207263776 T - DEL C4BPB ENST00000243611 human ensembl 74_37 +1 known frame_shift_del c.182 p.C63fs 0.006 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 70 0 0 59 30 33.7079 CR2 0 genome.wustl.edu 37 1 207641844 207641844 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 207641844 207641844 T - DEL CR2 ENST00000485707 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors CR2 HGNC ENSG00000117322 28 0 0 43 8 15.6863 PLXNA2 0 genome.wustl.edu 37 1 208227819 208227820 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 208227819 208227820 - A INS PLXNA2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_ins c.2803_2802 p.G934fs 1.000:0.993 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 77 0 0 62 48 43.6364 EIF4G3 0 genome.wustl.edu 37 1 21226332 21226332 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 21226332 21226332 T - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.1707 p.V570fs 0.003 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 214 1 0.465116 124 55 30.7263 CENPF 0 genome.wustl.edu 37 1 214818825 214818826 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 214818825 214818826 - A INS CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_ins c.5912_5913 p.T1974fs 0.031:0.005 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 56 0 0 86 13 13.1313 LYPLAL1 0 genome.wustl.edu 37 1 219347300 219347300 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 219347300 219347300 C - DEL LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known frame_shift_del c.68 p.S23fs 0.557 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 45 0 0 113 8 6.61157 RAP1GAP 0 genome.wustl.edu 37 1 21978087 21978088 + RNA DEL AC AC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 21978087 21978088 AC - DEL RAP1GAP ENST00000374757 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.018 - - - no_errors RAP1GAP HGNC ENSG00000076864 44 0 0 20 8 28.5714 USP48 0 genome.wustl.edu 37 1 22084139 22084139 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 22084139 22084139 A - DEL USP48 ENST00000489108 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP48 HGNC ENSG00000090686 42 0 0 37 10 21.2766 DUSP10 0 genome.wustl.edu 37 1 221875662 221875663 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 221875662 221875663 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.067 - - - no_errors DUSP10 HGNC ENSG00000143507 36 0 0 31 24 43.6364 ENSG00000272750 0 genome.wustl.edu 37 1 222832217 222832218 + RNA INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 222832217 222832218 - T INS ENSG00000272750 ENST00000608771 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-378J18.8 Clone_based_vega_gene ENSG00000272750 58 0 0 60 10 14.2857 DISP1 0 genome.wustl.edu 37 1 223164985 223164985 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 223164985 223164985 A - DEL DISP1 ENST00000284476 human ensembl 74_37 +1 novel frame_shift_del c.787 p.S264fs 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 36 0 0 50 18 26.4706 TP53BP2 0 genome.wustl.edu 37 1 223989746 223989746 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 223989746 223989746 T - DEL TP53BP2 ENST00000481128 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TP53BP2 HGNC ENSG00000143514 31 0 0 29 14 32.5581 OBSCN 0 genome.wustl.edu 37 1 228461031 228461031 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228461031 228461031 G - DEL OBSCN ENST00000570156 human ensembl 74_37 +1 putative frame_shift_del c.6045 p.A2017fs 0.030 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 73 0 0 59 23 28.0488 TRIM17 0 genome.wustl.edu 37 1 228596778 228596779 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228596778 228596779 - C INS TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_ins c.978_977 p.S327fs 0.000:0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 47 0 0 55 9 14.0625 HIST3H3 0 genome.wustl.edu 37 1 228612855 228612856 + In_Frame_Ins INS - - CTT TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 228612855 228612856 - CTT INS HIST3H3 ENST00000366696 human ensembl 74_37 -1 known in_frame_ins c.172_171 p.57in_frame_insK 1.000:1.000 superfamily_Histone-fold,smart_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 222 0 0 245 34 12.1864 AGT 0 genome.wustl.edu 37 1 230839054 230839055 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 230839054 230839055 - A INS AGT ENST00000366667 human ensembl 74_37 -1 known frame_shift_ins c.1291_1290 p.E430fs 0.828:0.354 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 90 0 0 113 18 13.7405 ZNF695 0 genome.wustl.edu 37 1 247151070 247151070 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 247151070 247151070 A - DEL ZNF695 ENST00000339986 human ensembl 74_37 -1 known frame_shift_del c.747 p.F249fs 0.007 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 ZNF695 HGNC ENSG00000197472 34 0 0 32 9 21.9512 CNKSR1 0 genome.wustl.edu 37 1 26510310 26510311 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 26510310 26510311 - C INS CNKSR1 ENST00000374253 human ensembl 74_37 +1 known frame_shift_ins c.865_866 p.Q292fs 0.002:0.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 51 0 0 43 9 17.3077 SH3BGRL3 0 genome.wustl.edu 37 1 26607440 26607440 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 26607440 26607440 G - DEL SH3BGRL3 ENST00000319041 human ensembl 74_37 +1 known frame_shift_del c.233 p.G80fs 0.000 NULL pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL3 HGNC ENSG00000142669 35 0 0 11 17 60.7143 ARID1A 0 genome.wustl.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 27105930 27105931 - G INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.5541_5542 p.D1849fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 154 0 0 111 32 22.3776 PHACTR4 0 genome.wustl.edu 37 1 28785730 28785730 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 28785730 28785730 A - DEL PHACTR4 ENST00000373836 human ensembl 74_37 +1 known frame_shift_del c.181 p.S64fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 77 0 0 48 30 38.4615 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 13 0 0 6 8 57.1429 KIAA1522 0 genome.wustl.edu 37 1 33233495 33233495 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 33233495 33233495 C - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.343 p.H117fs 0.980 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 99 0 0 118 9 7.08661 KIAA1522 0 genome.wustl.edu 37 1 33236965 33236965 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 33236965 33236965 C - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.2185 p.P730fs 0.998 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 46 0 0 28 8 22.2222 DLGAP3 0 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 11 0 0 6 3 33.3333 ZMYM1 0 genome.wustl.edu 37 1 35578941 35578941 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 35578941 35578941 A - DEL ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel frame_shift_del c.1510 p.T506fs 0.996 NULL pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 80 0 0 61 26 29.8851 ZMYM4 0 genome.wustl.edu 37 1 35836079 35836080 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 35836079 35836080 - A INS ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_ins c.1032_1033 p.I346fs 1.000:1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 85 0 0 68 15 18.0723 SH3D21 0 genome.wustl.edu 37 1 36786228 36786228 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 36786228 36786228 A - DEL SH3D21 ENST00000453908 human ensembl 74_37 +1 known frame_shift_del c.1964 p.T657fs 0.004 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 151 1 0.657895 81 25 23.5849 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 50 0 0 58 5 7.93651 ZNF684 0 genome.wustl.edu 37 1 41012381 41012382 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 41012381 41012382 - A INS ZNF684 ENST00000372699 human ensembl 74_37 +1 known frame_shift_ins c.386_387 p.S132fs 0.770:0.826 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 40 0 0 18 9 33.3333 PTCH2 0 genome.wustl.edu 37 1 45288194 45288194 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 45288194 45288194 G - DEL PTCH2 ENST00000372192 human ensembl 74_37 -1 known frame_shift_del c.3505 p.L1169fs 0.616 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 75 0 0 87 20 18.6916 UROD 0 genome.wustl.edu 37 1 45479967 45479967 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 45479967 45479967 T - DEL UROD ENST00000472254 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors UROD HGNC ENSG00000126088 21 0 0 9 11 55 GPBP1L1 0 genome.wustl.edu 37 1 46120890 46120890 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 46120890 46120890 A - DEL GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 1.000 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 100 0 0 79 12 13.1868 POMGNT1 0 genome.wustl.edu 37 1 46660269 46660270 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 46660269 46660270 - C INS POMGNT1 ENST00000371986 human ensembl 74_37 -1 known frame_shift_ins c.707_706 p.D236fs 1.000:1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 110 0 0 78 8 9.30233 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 17 0 0 10 8 44.4444 CDCP2 0 genome.wustl.edu 37 1 54618577 54618577 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 54618577 54618577 C - DEL CDCP2 ENST00000371330 human ensembl 74_37 -1 novel frame_shift_del c.19 p.A7fs 0.012 NULL pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors CDCP2 HGNC ENSG00000157211 134 0 0 122 7 5.42636 FAM151A 0 genome.wustl.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 55081756 55081757 - G INS FAM151A ENST00000302250 human ensembl 74_37 -1 known frame_shift_ins c.352_351 p.T117fs 0.716:0.037 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 49 0 0 46 19 29.2308 RPL22 0 genome.wustl.edu 37 1 6257784 6257785 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 6257784 6257785 - T INS RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_ins c.45_44 p.K16fs 1.000:1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 36 0 0 18 3 14.2857 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 13 0 0 13 6 31.5789 JAK1 0 genome.wustl.edu 37 1 65325833 65325833 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 65325833 65325833 G - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.1289 p.P430fs 0.995 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 108 0 0 83 18 17.8218 LEPR 0 genome.wustl.edu 37 1 66102459 66102460 + Frame_Shift_Ins INS - - AG TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 66102459 66102460 - AG INS LEPR ENST00000349533 human ensembl 74_37 +1 known frame_shift_ins c.3259_3260 p.S1090fs 0.003:0.001 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 65 0 0 43 8 15.6863 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 12 0 0 17 4 19.0476 MIER1 0 genome.wustl.edu 37 1 67425494 67425495 + RNA INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 67425494 67425495 - T INS MIER1 ENST00000493357 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIER1 HGNC ENSG00000198160 11 0 0 10 4 28.5714 ZRANB2 0 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 35 0 0 30 13 30.2326 LRRIQ3 0 genome.wustl.edu 37 1 74621423 74621423 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 74621423 74621423 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.701 p.N234fs 0.000 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 37 0 0 26 5 16.129 ACADM 0 genome.wustl.edu 37 1 76198583 76198584 + Frame_Shift_Ins INS - - AC TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 76198583 76198584 - AC INS ACADM ENST00000420607 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.I95fs 1.000:0.999 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 38 0 0 34 4 10.5263 RERE 0 genome.wustl.edu 37 1 8420244 8420244 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 8420244 8420244 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.3323 p.P1108fs 0.999 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 16 0 0 13 7 35 BCL10 0 genome.wustl.edu 37 1 85733513 85733513 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 85733513 85733513 A - DEL BCL10 ENST00000370580 human ensembl 74_37 -1 known frame_shift_del c.499 p.S167fs 0.998 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 114 1 0.869565 62 39 38.6139 COL24A1 0 genome.wustl.edu 37 1 86554876 86554876 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 86554876 86554876 G - DEL COL24A1 ENST00000370571 human ensembl 74_37 -1 known frame_shift_del c.1688 p.P563fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 84 0 0 52 9 14.7541 CDC7 0 genome.wustl.edu 37 1 91967357 91967357 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 91967357 91967357 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.84 p.N31fs 0.083 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 89 0 0 71 10 12.3457 EVI5 0 genome.wustl.edu 37 1 93159365 93159366 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 93159365 93159366 - T INS EVI5 ENST00000543509 human ensembl 74_37 -1 known frame_shift_ins c.1223_1222 p.M408fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 77 0 0 55 13 19.1176 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 26 0 0 12 13 52 F3 0 genome.wustl.edu 37 1 94998633 94998633 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 1 94998633 94998633 A - DEL F3 ENST00000478217 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors F3 HGNC ENSG00000117525 22 0 0 28 7 20 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992926 + RNA DEL AAA AAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 101992924 101992926 AAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200 - - - no_errors CWF19L1 HGNC ENSG00000095485 46 0 0 40 16 28.5714 LZTS2 0 genome.wustl.edu 37 10 102762353 102762354 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 102762353 102762354 - C INS LZTS2 ENST00000370220 human ensembl 74_37 +1 known frame_shift_ins c.58_59 p.Q22fs 0.823:1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 98 0 0 98 21 17.6471 HPS6 0 genome.wustl.edu 37 10 103827022 103827023 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 103827022 103827023 - G INS HPS6 ENST00000299238 human ensembl 74_37 +1 known frame_shift_ins c.1791_1792 p.G600fs 0.000:0.021 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 46 0 0 52 19 26.7606 PPRC1 0 genome.wustl.edu 37 10 103908248 103908248 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 103908248 103908248 C - DEL PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_del c.4520 p.R1509fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 138 1 0.719424 100 37 27.0073 PSD 0 genome.wustl.edu 37 10 104176203 104176203 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 104176203 104176203 C - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.593 p.G198fs 0.774 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 27 0 0 26 8 23.5294 GPAM 0 genome.wustl.edu 37 10 113919769 113919769 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 113919769 113919769 C - DEL GPAM ENST00000348367 human ensembl 74_37 -1 known frame_shift_del c.1802 p.G601fs 0.087 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 86 0 0 86 15 14.8515 HSPA12A 0 genome.wustl.edu 37 10 118435944 118435944 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 118435944 118435944 A - DEL HSPA12A ENST00000369209 human ensembl 74_37 -1 known frame_shift_del c.1356 p.F452fs 0.926 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 136 0 0 90 35 28 SLC18A2 0 genome.wustl.edu 37 10 119029967 119029967 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 119029967 119029967 A - DEL SLC18A2 ENST00000298472 human ensembl 74_37 +1 known frame_shift_del c.1433 p.M480fs 1.000 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 70 0 0 43 14 24.5614 PRDX3 0 genome.wustl.edu 37 10 120934108 120934108 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 120934108 120934108 A - DEL PRDX3 ENST00000463322 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors PRDX3 HGNC ENSG00000165672 30 0 0 32 12 27.2727 ZRANB1 0 genome.wustl.edu 37 10 126673560 126673561 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 126673560 126673561 - A INS ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_ins c.2126_2127 p.*710fs 1.000:0.994 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 15 0 0 23 4 14.8148 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 105 0 0 98 8 7.54717 CUBN 0 genome.wustl.edu 37 10 17165610 17165610 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 17165610 17165610 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.466 p.C156fs 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 29 0 0 20 11 35.4839 MLLT10 0 genome.wustl.edu 37 10 22021892 22021893 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 22021892 22021893 - A INS MLLT10 ENST00000307729 human ensembl 74_37 +1 known frame_shift_ins c.2283_2284 p.N762fs 0.989:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 42 0 0 33 13 28.2609 MYO3A 0 genome.wustl.edu 37 10 26454979 26454980 + RNA INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 26454979 26454980 - T INS MYO3A ENST00000477691 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MYO3A HGNC ENSG00000095777 244 0 0 185 43 18.8596 ARMC4 0 genome.wustl.edu 37 10 28233164 28233164 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 28233164 28233164 C - DEL ARMC4 ENST00000305242 human ensembl 74_37 -1 known frame_shift_del c.1730 p.G577fs 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 33 0 0 13 4 23.5294 MTPAP 0 genome.wustl.edu 37 10 30629179 30629179 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 30629179 30629179 A - DEL MTPAP ENST00000358107 human ensembl 74_37 -1 known frame_shift_del c.921 p.F307fs 0.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 56 0 0 34 14 29.1667 CREM 0 genome.wustl.edu 37 10 35500543 35500543 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 35500543 35500543 A - DEL CREM ENST00000469517 human ensembl 74_37 +1 known rna NULL NULL 0.116 - - - no_errors CREM HGNC ENSG00000095794 33 0 0 40 7 14.8936 ENSG00000234864 0 genome.wustl.edu 37 10 43199667 43199668 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 43199667 43199668 AA - DEL ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 34 0 0 24 10 29.4118 ERCC6 0 genome.wustl.edu 37 10 50678283 50678286 + Frame_Shift_Del DEL CTCA CTCA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 50678283 50678286 CTCA - DEL ERCC6 ENST00000355832 human ensembl 74_37 -1 known frame_shift_del c.3723_3720 p.S1240fs 0.924:0.912:0.657:0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 282 0 0 178 57 24.2553 SIRT1 0 genome.wustl.edu 37 10 69672701 69672701 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 69672701 69672701 A - DEL SIRT1 ENST00000212015 human ensembl 74_37 +1 known frame_shift_del c.1828 p.N611fs 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 81 0 0 80 7 8.04598 HNRNPH3 0 genome.wustl.edu 37 10 70097824 70097824 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 70097824 70097824 G - DEL HNRNPH3 ENST00000469172 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 31 0 0 23 3 11.5385 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 34 0 0 19 11 36.6667 KAT6B 0 genome.wustl.edu 37 10 76741703 76741703 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 76741703 76741703 A - DEL KAT6B ENST00000490365 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors KAT6B HGNC ENSG00000156650 28 0 0 25 5 16.6667 WAPAL 0 genome.wustl.edu 37 10 88259565 88259565 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 88259565 88259565 T - DEL WAPAL ENST00000298767 human ensembl 74_37 -1 known frame_shift_del c.1435 p.R479fs 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 74 0 0 43 16 27.1186 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 45 0 0 25 7 21.875 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 53 0 0 63 9 12.5 HELLS 0 genome.wustl.edu 37 10 96352264 96352264 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 10 96352264 96352264 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.2102 p.N703fs 0.998 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 36 0 0 33 12 26.6667 C11orf70 0 genome.wustl.edu 37 11 101937275 101937275 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 101937275 101937275 T - DEL C11orf70 ENST00000434758 human ensembl 74_37 +1 known frame_shift_del c.328 p.H112fs 1.000 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 28 0 0 34 10 22.7273 MUC6 0 genome.wustl.edu 37 11 1027310 1027319 + Frame_Shift_Del DEL AACTTGTAAC AACTTGTAAC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AACTTGTAAC AACTTGTAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1027310 1027319 AACTTGTAAC - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.2189_2180 p.G727fs 0.001:0.000:0.017:0.020:0.023:0.000:0.000:0.000:0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 244 0 0 166 34 17 AMPD3 0 genome.wustl.edu 37 11 10527420 10527420 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 10527420 10527420 T - DEL AMPD3 ENST00000396553 human ensembl 74_37 +1 known frame_shift_del c.2293 p.L765fs 0.001 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 86 0 0 90 8 8.16327 NPAT 0 genome.wustl.edu 37 11 108093317 108093318 + RNA DEL AC AC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 108093317 108093318 AC - DEL NPAT ENST00000610253 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.004 - - - no_errors NPAT HGNC ENSG00000149308 37 0 0 18 3 14.2857 DLAT 0 genome.wustl.edu 37 11 111904183 111904183 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 111904183 111904183 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.716 p.V242fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 25 0 0 21 7 25 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 68 0 0 59 16 21.3333 KMT2A 0 genome.wustl.edu 37 11 118391565 118391565 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 118391565 118391565 A - DEL KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_del c.11469 p.K3825fs 0.996 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 78 0 0 54 16 22.8571 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 21 0 0 13 4 23.5294 MFRP 0 genome.wustl.edu 37 11 119216272 119216273 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 119216272 119216273 - G INS MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_ins c.499_498 p.N166fs 0.997:1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 63 0 0 57 16 21.9178 CTSD 0 genome.wustl.edu 37 11 1780830 1780830 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 1780830 1780830 G - DEL CTSD ENST00000236671 human ensembl 74_37 -1 known frame_shift_del c.268 p.Q90fs 0.999 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 87 0 0 76 7 8.43373 SPTY2D1 0 genome.wustl.edu 37 11 18638500 18638501 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 18638500 18638501 - T INS SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_ins c.97_96 p.D32fs 1.000:1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 79 0 0 42 9 17.6471 SPTY2D1 0 genome.wustl.edu 37 11 18638501 18638501 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 18638501 18638501 T - DEL SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_del c.96 p.D33fs 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 79 0 0 38 13 25.4902 PTPN5 0 genome.wustl.edu 37 11 18754906 18754907 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 18754906 18754907 - C INS PTPN5 ENST00000358540 human ensembl 74_37 -1 known frame_shift_ins c.1094_1093 p.E365fs 1.000:1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 165 0 0 158 10 5.95238 E2F8 0 genome.wustl.edu 37 11 19251226 19251226 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 19251226 19251226 T - DEL E2F8 ENST00000250024 human ensembl 74_37 -1 known frame_shift_del c.1668 p.D557fs 0.767 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 129 0 0 156 15 8.77193 TRPM5 0 genome.wustl.edu 37 11 2427290 2427291 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 2427290 2427291 - C INS TRPM5 ENST00000452833 human ensembl 74_37 -1 known frame_shift_ins c.3289_3288 p.L1096fs 0.642:0.058 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 109 0 0 104 13 11.1111 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 106 0 0 52 22 29.7297 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 30 0 0 25 11 30.5556 ACCSL 0 genome.wustl.edu 37 11 44074959 44074959 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 44074959 44074959 A - DEL ACCSL ENST00000378832 human ensembl 74_37 +1 known frame_shift_del c.952 p.K319fs 0.836 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 43 0 0 31 9 22.5 AMBRA1 0 genome.wustl.edu 37 11 46419037 46419038 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 46419037 46419038 - C INS AMBRA1 ENST00000458649 human ensembl 74_37 -1 known frame_shift_ins c.3860_3859 p.D1287fs 0.856:0.977 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 122 0 0 92 21 18.5841 AMBRA1 0 genome.wustl.edu 37 11 46568609 46568610 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 46568609 46568610 AA - DEL AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.881:0.899 - - - no_errors AMBRA1 HGNC ENSG00000110497 41 0 0 44 13 22.807 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 90 0 0 88 43 32.8244 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 141 0 0 137 10 6.80272 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 52 0 0 32 9 21.9512 OR9G4 0 genome.wustl.edu 37 11 56510933 56510933 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 56510933 56510933 A - DEL OR9G4 ENST00000302957 human ensembl 74_37 -1 known frame_shift_del c.355 p.S119fs 0.823 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 OR9G4 HGNC ENSG00000172457 170 0 0 114 45 28.3019 TNKS1BP1 0 genome.wustl.edu 37 11 57076427 57076428 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 57076427 57076428 CT - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.3758_3757 p.S1253fs 1.000:0.998 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 359 0 0 247 42 14.5329 ZDHHC5 0 genome.wustl.edu 37 11 57464258 57464258 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 57464258 57464258 C - DEL ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known frame_shift_del c.1035 p.P347fs 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 102 0 0 83 7 7.77778 AHNAK 0 genome.wustl.edu 37 11 62295928 62295928 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 62295928 62295928 G - DEL AHNAK ENST00000378024 human ensembl 74_37 -1 known frame_shift_del c.5961 p.K1988fs 0.964 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 481 0 0 309 28 8.30861 SLC22A6 0 genome.wustl.edu 37 11 62749334 62749334 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 62749334 62749334 A - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.777 p.F259fs 0.986 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 36 0 0 24 5 17.2414 CCKBR 0 genome.wustl.edu 37 11 6292398 6292399 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 6292398 6292399 - A INS CCKBR ENST00000525462 human ensembl 74_37 +1 known frame_shift_ins c.1176_1177 p.L393fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 87 0 0 97 28 22.4 PLCB3 0 genome.wustl.edu 37 11 64026586 64026588 + In_Frame_Del DEL GAA GAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 64026586 64026588 GAA - DEL PLCB3 ENST00000279230 human ensembl 74_37 +1 known in_frame_del c.1395_1397 p.K466in_frame_del 1.000:1.000:1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 32 0 0 33 4 10.8108 MALAT1 0 genome.wustl.edu 37 11 65273569 65273570 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65273569 65273570 AA - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 40 0 0 14 27 65.8537 MAP3K11 0 genome.wustl.edu 37 11 65366996 65366996 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65366996 65366996 G - DEL MAP3K11 ENST00000309100 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.052 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 49 0 0 40 16 28.5714 SIPA1 0 genome.wustl.edu 37 11 65409804 65409804 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 65409804 65409804 G - DEL SIPA1 ENST00000394224 human ensembl 74_37 +1 known frame_shift_del c.763 p.G256fs 0.985 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 11 0 0 2 3 60 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165934 + RNA DEL CC CC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67165933 67165934 CC - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080:0.427 - - - no_errors PPP1CA HGNC ENSG00000172531 28 0 0 22 7 24.1379 TBC1D10C 0 genome.wustl.edu 37 11 67177159 67177159 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67177159 67177159 C - DEL TBC1D10C ENST00000312390 human ensembl 74_37 +1 known frame_shift_del c.1275 p.I428fs 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 25 0 0 24 15 38.4615 CORO1B 0 genome.wustl.edu 37 11 67209168 67209169 + Frame_Shift_Del DEL GG GG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 67209168 67209169 GG - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490_489 p.H164fs 0.000:0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 26 0 0 26 10 27.7778 MYEOV 0 genome.wustl.edu 37 11 69063724 69063724 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 69063724 69063724 G - DEL MYEOV ENST00000308946 human ensembl 74_37 +1 known frame_shift_del c.807 p.W272fs 0.001 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 38 0 0 40 13 24.5283 NADSYN1 0 genome.wustl.edu 37 11 71193945 71193946 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 71193945 71193946 - C INS NADSYN1 ENST00000319023 human ensembl 74_37 +1 known frame_shift_ins c.1201_1202 p.Q403fs 0.935:0.919 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 99 0 0 83 11 11.7021 CYB5R2 0 genome.wustl.edu 37 11 7689748 7689748 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 7689748 7689748 T - DEL CYB5R2 ENST00000299498 human ensembl 74_37 -1 known frame_shift_del c.433 p.T145fs 0.305 NULL pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 206 1 0.483092 111 42 27.451 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 36 0 0 12 15 55.5556 AMOTL1 0 genome.wustl.edu 37 11 94533351 94533351 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 11 94533351 94533351 T - DEL AMOTL1 ENST00000433060 human ensembl 74_37 +1 known frame_shift_del c.995 p.Y334fs 0.062 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 266 0 0 182 61 25.1029 CLEC12A 0 genome.wustl.edu 37 12 10131960 10131961 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 10131960 10131961 - A INS CLEC12A ENST00000355690 human ensembl 74_37 +1 known frame_shift_ins c.246_247 p.M84fs 0.014:0.003 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 9 0 0 10 4 28.5714 WNK1 0 genome.wustl.edu 37 12 1017927 1017928 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 1017927 1017928 - C INS WNK1 ENST00000530271 human ensembl 74_37 +1 known frame_shift_ins c.8612_8613 p.G2874fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 88 0 0 115 18 13.5338 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 118 0 0 121 15 11.0294 TCHP 0 genome.wustl.edu 37 12 110344435 110344435 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 110344435 110344435 A - DEL TCHP ENST00000312777 human ensembl 74_37 +1 known frame_shift_del c.515 p.K174fs 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 57 0 0 32 14 30.4348 KSR2 0 genome.wustl.edu 37 12 117977605 117977605 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 117977605 117977605 G - DEL KSR2 ENST00000339824 human ensembl 74_37 -1 known frame_shift_del c.1606 p.L536fs 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 60 0 0 61 24 28.2353 TAOK3 0 genome.wustl.edu 37 12 118693433 118693433 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 118693433 118693433 T - DEL TAOK3 ENST00000542692 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAOK3 HGNC ENSG00000135090 74 0 0 68 10 12.8205 HNF1A 0 genome.wustl.edu 37 12 121432118 121432118 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 121432118 121432118 C - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 24 0 0 23 10 30.303 B3GNT4 0 genome.wustl.edu 37 12 122691036 122691037 + Frame_Shift_Del DEL CA CA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 122691036 122691037 CA - DEL B3GNT4 ENST00000324189 human ensembl 74_37 +1 known frame_shift_del c.238_239 p.T81fs 0.000:0.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 316 1 0.315457 226 69 23.3898 VPS33A 0 genome.wustl.edu 37 12 122748169 122748169 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 122748169 122748169 A - DEL VPS33A ENST00000267199 human ensembl 74_37 -1 known frame_shift_del c.246 p.F82fs 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 54 0 0 27 7 20.5882 SBNO1 0 genome.wustl.edu 37 12 123794282 123794283 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 123794282 123794283 - T INS SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_ins c.3417_3416 p.N1139fs 1.000:1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 106 1 0.934579 96 31 24.4094 SNRNP35 0 genome.wustl.edu 37 12 123950763 123950764 + Frame_Shift_Del DEL GA GA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 123950763 123950764 GA - DEL SNRNP35 ENST00000412157 human ensembl 74_37 +1 known frame_shift_del c.691_692 p.R234fs 1.000:0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 86 0 0 66 6 8.33333 NCOR2 0 genome.wustl.edu 37 12 124825249 124825249 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 124825249 124825249 G - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.5258 p.P1753fs 0.974 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 9 0 0 18 6 25 NCOR2 0 genome.wustl.edu 37 12 124841289 124841289 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 124841289 124841289 G - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.3161 p.P1054fs 0.010 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 15 0 0 17 6 26.087 DDX51 0 genome.wustl.edu 37 12 132624667 132624668 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 132624667 132624668 - G INS DDX51 ENST00000397333 human ensembl 74_37 -1 known frame_shift_ins c.1751_1750 p.Q584fs 1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 137 0 0 146 12 7.59494 PIK3C2G 0 genome.wustl.edu 37 12 18491390 18491390 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 18491390 18491390 A - DEL PIK3C2G ENST00000538779 human ensembl 74_37 +1 known frame_shift_del c.1303 p.I437fs 0.999 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 66 0 0 53 16 23.1884 PLEKHA5 0 genome.wustl.edu 37 12 19460408 19460408 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 19460408 19460408 A - DEL PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 29 0 0 21 5 19.2308 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 27950769 27950769 G - DEL KLHL42 ENST00000381271 human ensembl 74_37 +1 known frame_shift_del c.1188 p.C399fs 0.988 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 159 0 0 122 31 20.2614 ENSG00000236908 0 genome.wustl.edu 37 12 3432669 3432669 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 3432669 3432669 C - DEL ENSG00000236908 ENST00000432994 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP5-1063M23.2 Clone_based_vega_gene ENSG00000236908 44 0 0 25 10 28.5714 KIF21A 0 genome.wustl.edu 37 12 39726540 39726540 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 39726540 39726540 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.2709 p.K903fs 0.988 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 36 0 0 36 8 18.1818 GXYLT1 0 genome.wustl.edu 37 12 42499815 42499816 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 42499815 42499816 - A INS GXYLT1 ENST00000398675 human ensembl 74_37 -1 known frame_shift_ins c.669_668 p.L223fs 0.997:1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 51 0 0 38 10 20.8333 SCAF11 0 genome.wustl.edu 37 12 46342305 46342306 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 46342305 46342306 - T INS SCAF11 ENST00000369367 human ensembl 74_37 -1 known frame_shift_ins c.313_312 p.Q104fs 0.983:0.983 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 18 0 0 18 4 18.1818 KMT2D 0 genome.wustl.edu 37 12 49435198 49435199 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 49435198 49435199 - G INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.6355_6354 p.A2118fs 0.994:0.973 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 47 0 0 32 9 21.9512 TENC1 0 genome.wustl.edu 37 12 53453310 53453311 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53453310 53453311 - C INS TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_ins c.1915_1916 p.Q641fs 0.004:0.004 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 30 0 0 28 14 33.3333 RARG 0 genome.wustl.edu 37 12 53621285 53621285 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53621285 53621285 C - DEL RARG ENST00000394426 human ensembl 74_37 -1 known frame_shift_del c.45 p.P16fs 0.998 NULL 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 RARG HGNC ENSG00000172819 40 0 0 33 3 8.33333 MFSD5 0 genome.wustl.edu 37 12 53646815 53646816 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 53646815 53646816 CT - DEL MFSD5 ENST00000534842 human ensembl 74_37 +1 known frame_shift_del c.517_518 p.Y174fs 1.000:1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 267 0 0 225 12 5.06329 PDE1B 0 genome.wustl.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 54971059 54971060 - C INS PDE1B ENST00000243052 human ensembl 74_37 +1 known frame_shift_ins c.1558_1559 p.S523fs 0.998:1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 247 0 0 168 32 16 OR6C75 0 genome.wustl.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 55759192 55759192 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.298 p.F102fs 0.964 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 OR6C75 HGNC ENSG00000187857 100 1 0.990099 62 23 27.0588 ITGA7 0 genome.wustl.edu 37 12 56078934 56078934 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56078934 56078934 G - DEL ITGA7 ENST00000555728 human ensembl 74_37 -1 known frame_shift_del c.3454 p.R1152fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 51 0 0 52 8 13.3333 GDF11 0 genome.wustl.edu 37 12 56142425 56142425 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56142425 56142425 C - DEL GDF11 ENST00000257868 human ensembl 74_37 +1 known frame_shift_del c.501 p.K169fs 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 165 0 0 161 12 6.93642 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 34 0 0 21 14 40 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 195 0 0 124 45 26.6272 CYP27B1 0 genome.wustl.edu 37 12 58160653 58160654 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 58160653 58160654 - C INS CYP27B1 ENST00000228606 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.L57fs 0.999:0.430 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 161 0 0 119 32 21.1921 C1RL 0 genome.wustl.edu 37 12 7249400 7249400 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 7249400 7249400 G - DEL C1RL ENST00000266542 human ensembl 74_37 -1 known frame_shift_del c.1051 p.L351fs 0.908 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 73 0 0 102 7 6.42202 NAV3 0 genome.wustl.edu 37 12 78400806 78400806 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 78400806 78400806 A - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known frame_shift_del c.1488 p.K498fs 0.960 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 133 0 0 97 21 17.7966 NAV3 0 genome.wustl.edu 37 12 78513063 78513063 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 78513063 78513063 A - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known frame_shift_del c.3087 p.G1031fs 0.432 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 221 1 0.45045 131 25 16.0256 C3AR1 0 genome.wustl.edu 37 12 8212678 8212678 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 8212678 8212678 A - DEL C3AR1 ENST00000307637 human ensembl 74_37 -1 known frame_shift_del c.104 p.L35fs 0.093 prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 115 0 0 125 21 14.3836 CEP290 0 genome.wustl.edu 37 12 88487680 88487681 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 88487680 88487681 - T INS CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_ins c.3182_3181 p.I1061fs 1.000:1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 22 0 0 30 7 18.9189 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 124 0 0 96 16 14.2857 CCDC38 0 genome.wustl.edu 37 12 96260860 96260860 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 96260860 96260860 A - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.1686 p.F562fs 0.993 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 23 0 0 16 6 27.2727 APAF1 0 genome.wustl.edu 37 12 99071206 99071207 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 12 99071206 99071207 - A INS APAF1 ENST00000551964 human ensembl 74_37 +1 known frame_shift_ins c.1797_1798 p.N601fs 1.000:1.000 superfamily_WD40_repeat_dom,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 38 0 0 29 18 38.2979 CLYBL 0 genome.wustl.edu 37 13 100517132 100517133 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 100517132 100517133 - T INS CLYBL ENST00000339105 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.G203fs 0.996:1.000 pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta - no_errors CLYBL HGNC ENSG00000125246 140 0 0 140 28 16.6667 TNFSF13B 0 genome.wustl.edu 37 13 108959260 108959260 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 108959260 108959260 T - DEL TNFSF13B ENST00000375887 human ensembl 74_37 +1 known frame_shift_del c.832 p.F279fs 0.995 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors TNFSF13B HGNC ENSG00000102524 44 0 0 43 16 27.1186 COL4A1 0 genome.wustl.edu 37 13 110831696 110831696 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 110831696 110831696 C - DEL COL4A1 ENST00000375820 human ensembl 74_37 -1 known frame_shift_del c.2266 p.E756fs 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 130 0 0 151 28 15.6425 COL4A1 0 genome.wustl.edu 37 13 110835578 110835578 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 110835578 110835578 G - DEL COL4A1 ENST00000375820 human ensembl 74_37 -1 known frame_shift_del c.1943 p.P648fs 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 24 0 0 32 8 20 GAS6 0 genome.wustl.edu 37 13 114542717 114542718 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 114542717 114542718 - C INS GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_ins c.450_449 p.R151fs 0.842:0.997 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 159 1 0.625 193 36 15.7205 MPHOSPH8 0 genome.wustl.edu 37 13 20245322 20245322 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 20245322 20245322 T - DEL MPHOSPH8 ENST00000496525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MPHOSPH8 HGNC ENSG00000196199 22 0 0 21 3 12.5 PSPC1 0 genome.wustl.edu 37 13 20304380 20304380 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 20304380 20304380 T - DEL PSPC1 ENST00000338910 human ensembl 74_37 -1 known frame_shift_del c.1157 p.N386fs 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 137 0 0 131 15 10.274 FGF9 0 genome.wustl.edu 37 13 22246178 22246178 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 22246178 22246178 G - DEL FGF9 ENST00000382353 human ensembl 74_37 +1 known frame_shift_del c.127 p.L45fs 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 93 0 0 113 18 13.7405 USP12 0 genome.wustl.edu 37 13 27664270 27664270 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 27664270 27664270 A - DEL USP12 ENST00000282344 human ensembl 74_37 -1 known frame_shift_del c.599 p.L200fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 47 0 0 36 12 25 SNORD102 0 genome.wustl.edu 37 13 27829216 27829217 + RNA INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 27829216 27829217 - T INS SNORD102 ENST00000384769 human ensembl 74_37 +1 known rna NULL NULL 0.999:0.998 - - - no_errors SNORD102 HGNC ENSG00000207500 65 0 0 66 10 13.1579 SLC46A3 0 genome.wustl.edu 37 13 29278265 29278266 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 29278265 29278266 AA - DEL SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors SLC46A3 HGNC ENSG00000139508 40 0 0 47 11 18.9655 MTUS2 0 genome.wustl.edu 37 13 29600552 29600552 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 29600552 29600552 C - DEL MTUS2 ENST00000431530 human ensembl 74_37 +1 known frame_shift_del c.1747 p.P584fs 0.121 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 99 0 0 122 12 8.95522 HMGB1 0 genome.wustl.edu 37 13 31037600 31037600 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 31037600 31037600 T - DEL HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 37 0 0 46 17 26.9841 B3GALTL 0 genome.wustl.edu 37 13 31803391 31803392 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 31803391 31803392 - A INS B3GALTL ENST00000343307 human ensembl 74_37 +1 known frame_shift_ins c.230_231 p.S80fs 0.257:0.240 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 66 0 0 62 6 8.82353 BRCA2 0 genome.wustl.edu 37 13 32911322 32911322 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 32911322 32911322 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.2830 p.D946fs 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 34 0 0 72 17 19.1011 RFC3 0 genome.wustl.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 34398063 34398063 A - DEL RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_del c.235 p.I82fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 16 0 0 13 3 18.75 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776224 36776224 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 36776224 36776224 T - DEL CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known frame_shift_del c.286 p.I96fs 0.956 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 38 0 0 31 15 32.6087 DGKH 0 genome.wustl.edu 37 13 42773803 42773803 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 42773803 42773803 A - DEL DGKH ENST00000337343 human ensembl 74_37 +1 known frame_shift_del c.2387 p.K797fs 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 21 0 0 25 8 24.2424 EPSTI1 0 genome.wustl.edu 37 13 43537414 43537414 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 43537414 43537414 T - DEL EPSTI1 ENST00000313640 human ensembl 74_37 -1 known frame_shift_del c.466 p.M156fs 1.000 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 40 0 0 46 13 22.0339 LACC1 0 genome.wustl.edu 37 13 44455410 44455411 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 44455410 44455411 - A INS LACC1 ENST00000325686 human ensembl 74_37 +1 known frame_shift_ins c.289_290 p.N99fs 1.000:0.994 NULL pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 42 0 0 63 7 10 TSC22D1 0 genome.wustl.edu 37 13 45008838 45008838 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 45008838 45008838 G - DEL TSC22D1 ENST00000458659 human ensembl 74_37 -1 known frame_shift_del c.3146 p.P1049fs 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 38 0 0 68 9 11.6883 GPALPP1 0 genome.wustl.edu 37 13 45601959 45601959 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 45601959 45601959 A - DEL GPALPP1 ENST00000361121 human ensembl 74_37 +1 known frame_shift_del c.844 p.K283fs 1.000 pfam_DUF3752 pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 52 0 0 59 7 10.6061 GTF2F2 0 genome.wustl.edu 37 13 45781540 45781540 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 45781540 45781540 T - DEL GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 21 0 0 12 17 58.6207 ZC3H13 0 genome.wustl.edu 37 13 46543661 46543661 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46543661 46543661 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.3018 p.K1006fs 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 58 0 0 49 14 22.2222 ZC3H13 0 genome.wustl.edu 37 13 46549808 46549809 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 46549808 46549809 CT - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.2078_2077 p.R693fs 0.991:0.444 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 35 0 0 21 6 22.2222 MYCBP2 0 genome.wustl.edu 37 13 77650928 77650928 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 77650928 77650928 T - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.11781 p.A3928fs 0.996 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 61 0 0 68 8 10.5263 EDNRB 0 genome.wustl.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 78475267 78475267 A - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.877 p.Y293fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 42 0 0 38 9 19.1489 SLC15A1 0 genome.wustl.edu 37 13 99364824 99364825 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 13 99364824 99364825 - T INS SLC15A1 ENST00000376503 human ensembl 74_37 -1 known frame_shift_ins c.738_737 p.N246fs 0.869:1.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 82 0 0 79 23 22.549 PPP2R5C 0 genome.wustl.edu 37 14 102378891 102378891 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 102378891 102378891 G - DEL PPP2R5C ENST00000556218 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP2R5C HGNC ENSG00000078304 22 0 0 5 4 44.4444 TEP1 0 genome.wustl.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 20852647 20852647 C - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.3242 p.G1081fs 0.998 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 287 0 0 223 75 25.1678 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 60 0 0 57 20 25.974 RNASE9 0 genome.wustl.edu 37 14 21025106 21025106 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 21025106 21025106 T - DEL RNASE9 ENST00000338904 human ensembl 74_37 -1 known frame_shift_del c.123 p.E42fs 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 45 0 0 55 19 25.6757 NYNRIN 0 genome.wustl.edu 37 14 24877215 24877215 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24877215 24877215 C - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.339 p.P115fs 0.001 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 112 0 0 77 29 27.3585 SDR39U1 0 genome.wustl.edu 37 14 24909625 24909625 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 24909625 24909625 G - DEL SDR39U1 ENST00000399395 human ensembl 74_37 -1 known frame_shift_del c.546 p.I183fs 1.000 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 37 0 0 33 7 17.5 STRN3 0 genome.wustl.edu 37 14 31381213 31381213 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 31381213 31381213 T - DEL STRN3 ENST00000357479 human ensembl 74_37 -1 known frame_shift_del c.1550 p.K517fs 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 80 0 0 63 8 11.2676 ARHGAP5 0 genome.wustl.edu 37 14 32560445 32560445 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 32560445 32560445 A - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.570 p.K192fs 0.964 pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 89 0 0 65 12 15.5844 ARHGAP5 0 genome.wustl.edu 37 14 32562675 32562675 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 32562675 32562675 T - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2800 p.F935fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 38 0 0 43 8 15.6863 SRP54 0 genome.wustl.edu 37 14 35497356 35497356 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 35497356 35497356 A - DEL SRP54 ENST00000216774 human ensembl 74_37 +1 known frame_shift_del c.1390 p.M465fs 1.000 NULL pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 100 0 0 72 20 21.7391 RALGAPA1 0 genome.wustl.edu 37 14 36194270 36194270 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 36194270 36194270 T - DEL RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_del c.1826 p.N609fs 0.969 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 44 0 0 17 10 37.037 MIA2 0 genome.wustl.edu 37 14 39716860 39716860 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 39716860 39716860 A - DEL MIA2 ENST00000556784 human ensembl 74_37 +1 putative frame_shift_del c.1079 p.D363fs 0.883 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 42 0 0 41 17 29.3103 TXNDC16 0 genome.wustl.edu 37 14 52907344 52907344 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 52907344 52907344 T - DEL TXNDC16 ENST00000281741 human ensembl 74_37 -1 known frame_shift_del c.1941 p.A648fs 0.014 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 28 0 0 23 8 25.8065 OTX2 0 genome.wustl.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 57271049 57271049 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.130 p.R44fs 0.947 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 73 0 0 47 16 25.3968 SLC38A6 0 genome.wustl.edu 37 14 61518564 61518564 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 61518564 61518564 T - DEL SLC38A6 ENST00000354886 human ensembl 74_37 +1 known frame_shift_del c.1110 p.L372fs 0.480 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 39 0 0 31 9 22.5 WDR89 0 genome.wustl.edu 37 14 64066271 64066273 + In_Frame_Del DEL AAT AAT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 64066271 64066273 AAT - DEL WDR89 ENST00000267522 human ensembl 74_37 -1 known in_frame_del c.390_388 p.I130in_frame_del 1.000:1.000:0.766 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR89 HGNC ENSG00000140006 33 0 0 28 8 22.2222 SYNE2 0 genome.wustl.edu 37 14 64608080 64608081 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 64608080 64608081 - A INS SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_ins c.14998_14999 p.S5002fs 1.000:0.989 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 55 0 0 44 9 16.9811 PLEKHH1 0 genome.wustl.edu 37 14 68053849 68053850 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 68053849 68053850 - C INS PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known frame_shift_ins c.3992_3993 p.T1334fs 0.000:0.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 47 0 0 18 4 18.1818 SIPA1L1 0 genome.wustl.edu 37 14 72054754 72054755 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 72054754 72054755 - C INS SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_ins c.165_166 p.R57fs 0.981:1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 164 1 0.606061 103 25 19.5312 RPS6KL1 0 genome.wustl.edu 37 14 75373751 75373751 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 75373751 75373751 A - DEL RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known frame_shift_del c.1616 p.F539fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 407 0 0 324 51 13.6 IRF2BPL 0 genome.wustl.edu 37 14 77493373 77493374 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 77493373 77493374 - G INS IRF2BPL ENST00000238647 human ensembl 74_37 -1 known frame_shift_ins c.763_762 p.N254fs 0.925:0.927 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 9 0 0 7 5 41.6667 FOXN3 0 genome.wustl.edu 37 14 89878534 89878534 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 89878534 89878534 G - DEL FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_del c.287 p.P96fs 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 94 0 0 65 17 20.7317 KCNK13 0 genome.wustl.edu 37 14 90651284 90651285 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 90651284 90651285 - G INS KCNK13 ENST00000282146 human ensembl 74_37 +1 known frame_shift_ins c.1164_1165 p.V390fs 0.587:1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 47 0 0 38 5 11.6279 CLMN 0 genome.wustl.edu 37 14 95662949 95662949 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 95662949 95662949 T - DEL CLMN ENST00000298912 human ensembl 74_37 -1 known frame_shift_del c.2594 p.K865fs 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 41 0 0 37 8 17.7778 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 38 0 0 38 15 28.3019 ALDH1A3 0 genome.wustl.edu 37 15 101432756 101432756 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 101432756 101432756 T - DEL ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known frame_shift_del c.387 p.F131fs 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 118 0 0 102 6 5.55556 OR4F15 0 genome.wustl.edu 37 15 102358469 102358469 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 102358469 102358469 T - DEL OR4F15 ENST00000332238 human ensembl 74_37 +1 known frame_shift_del c.80 p.F28fs 0.205 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 138 0 0 108 10 8.47458 OR4M2 0 genome.wustl.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 22369023 22369024 - G INS OR4M2 ENST00000332663 human ensembl 74_37 +1 putative frame_shift_ins c.448_449 p.F153fs 0.084:0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 336 0 0 260 33 11.2628 GABRG3 0 genome.wustl.edu 37 15 27571974 27571974 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 27571974 27571974 T - DEL GABRG3 ENST00000333743 human ensembl 74_37 +1 known frame_shift_del c.289 p.F98fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 132 0 0 81 10 10.989 AQR 0 genome.wustl.edu 37 15 35224524 35224524 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 35224524 35224524 A - DEL AQR ENST00000156471 human ensembl 74_37 -1 known frame_shift_del c.895 p.S299fs 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 63 0 0 62 12 16.2162 ZNF770 0 genome.wustl.edu 37 15 35274382 35274383 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 35274382 35274383 - T INS ZNF770 ENST00000356321 human ensembl 74_37 -1 known frame_shift_ins c.1254_1253 p.N418fs 0.772:0.757 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 42 0 0 38 15 28.3019 MEIS2 0 genome.wustl.edu 37 15 37390309 37390309 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 37390309 37390309 G - DEL MEIS2 ENST00000561208 human ensembl 74_37 -1 known frame_shift_del c.104 p.P35fs 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 78 0 0 86 9 9.47368 C15orf52 0 genome.wustl.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 40631782 40631782 C - DEL C15orf52 ENST00000559313 human ensembl 74_37 -1 known frame_shift_del c.294 p.M99fs 0.991 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 122 0 0 92 11 10.6796 ENSG00000259211 0 genome.wustl.edu 37 15 40756453 40756453 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 40756453 40756453 C - DEL ENSG00000259211 ENST00000559730 human ensembl 74_37 -1 known rna NULL NULL 0.673 - - - no_errors RP11-64K12.8 Clone_based_vega_gene ENSG00000259211 12 0 0 2 3 60 ZFYVE19 0 genome.wustl.edu 37 15 41105094 41105095 + Frame_Shift_Del DEL GA GA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41105094 41105095 GA - DEL ZFYVE19 ENST00000355341 human ensembl 74_37 +1 known frame_shift_del c.1024_1025 p.R343fs 0.290:0.277 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 68 0 0 73 12 14.1176 ENSG00000259521 0 genome.wustl.edu 37 15 41319994 41319994 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 41319994 41319994 A - DEL ENSG00000259521 ENST00000560178 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-540O11.4 Clone_based_vega_gene ENSG00000259521 8 0 0 7 3 30 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 42742957 42742957 A - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 176 0 0 138 49 26.2032 MAP1A 0 genome.wustl.edu 37 15 43820775 43820775 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 43820775 43820775 C - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.7104 p.P2370fs 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 77 0 0 62 16 20.5128 TRPM7 0 genome.wustl.edu 37 15 50884195 50884195 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 50884195 50884195 T - DEL TRPM7 ENST00000313478 human ensembl 74_37 -1 known frame_shift_del c.4237 p.S1413fs 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 68 0 0 44 20 31.25 CYP19A1 0 genome.wustl.edu 37 15 51504602 51504602 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 51504602 51504602 T - DEL CYP19A1 ENST00000260433 human ensembl 74_37 -1 known frame_shift_del c.1178 p.N393fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 118 0 0 71 31 30.3922 MYO5A 0 genome.wustl.edu 37 15 52615583 52615583 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 52615583 52615583 A - DEL MYO5A ENST00000358212 human ensembl 74_37 -1 known frame_shift_del c.4769 p.L1590fs 1.000 pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 36 0 0 35 13 27.0833 USP3-AS1 0 genome.wustl.edu 37 15 63881043 63881043 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 63881043 63881043 A - DEL USP3-AS1 ENST00000558831 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP3-AS1 HGNC ENSG00000259248 120 0 0 94 30 24.1935 SENP8 0 genome.wustl.edu 37 15 72432223 72432223 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 72432223 72432223 T - DEL SENP8 ENST00000340912 human ensembl 74_37 +1 known frame_shift_del c.259 p.L88fs 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP8 HGNC ENSG00000166192 110 0 0 69 53 43.4426 STRA6 0 genome.wustl.edu 37 15 74494643 74494643 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 74494643 74494643 A - DEL STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors STRA6 HGNC ENSG00000137868 29 0 0 22 5 18.5185 C15orf39 0 genome.wustl.edu 37 15 75501123 75501125 + In_Frame_Del DEL CTT CTT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 75501123 75501125 CTT - DEL C15orf39 ENST00000360639 human ensembl 74_37 +1 known in_frame_del c.2734_2736 p.L913in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 60 0 0 47 6 11.3208 PEAK1 0 genome.wustl.edu 37 15 77474065 77474065 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 77474065 77474065 T - DEL PEAK1 ENST00000312493 human ensembl 74_37 -1 known frame_shift_del c.204 p.K68fs 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 96 0 0 105 30 22.2222 ADAMTS7 0 genome.wustl.edu 37 15 79066978 79066978 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 79066978 79066978 C - DEL ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known frame_shift_del c.1864 p.V622fs 0.999 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 94 0 0 104 23 18.1102 MEX3B 0 genome.wustl.edu 37 15 82336383 82336383 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 82336383 82336383 G - DEL MEX3B ENST00000329713 human ensembl 74_37 -1 known frame_shift_del c.828 p.G277fs 0.008 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 73 0 0 86 18 17.3077 BTBD1 0 genome.wustl.edu 37 15 83686891 83686891 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 15 83686891 83686891 A - DEL BTBD1 ENST00000261721 human ensembl 74_37 -1 known frame_shift_del c.1377 p.F459fs 0.978 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 58 0 0 43 8 15.6863 ERCC4 0 genome.wustl.edu 37 16 14029286 14029286 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 14029286 14029286 A - DEL ERCC4 ENST00000311895 human ensembl 74_37 +1 known frame_shift_del c.1497 p.K500fs 0.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 92 0 0 44 18 29.0323 KIAA0430 0 genome.wustl.edu 37 16 15719251 15719251 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 15719251 15719251 T - DEL KIAA0430 ENST00000396368 human ensembl 74_37 -1 known frame_shift_del c.1931 p.N644fs 0.289 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 66 0 0 71 6 7.79221 SMG1 0 genome.wustl.edu 37 16 18890990 18890990 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 18890990 18890990 A - DEL SMG1 ENST00000389467 human ensembl 74_37 -1 known frame_shift_del c.1345 p.S449fs 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 46 0 0 46 3 6.12245 TMC5 0 genome.wustl.edu 37 16 19468198 19468201 + Frame_Shift_Del DEL CAGT CAGT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CAGT CAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 19468198 19468201 CAGT - DEL TMC5 ENST00000219821 human ensembl 74_37 +1 known frame_shift_del c.170_173 p.V58fs 0.000:0.000:0.000:0.001 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 64 0 0 51 14 21.5385 CCP110 0 genome.wustl.edu 37 16 19548632 19548632 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 19548632 19548632 A - DEL CCP110 ENST00000381396 human ensembl 74_37 +1 known frame_shift_del c.1641 p.N549fs 0.797 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 96 0 0 76 29 27.619 ENSG00000261312 0 genome.wustl.edu 37 16 19718153 19718153 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 19718153 19718153 A - DEL ENSG00000261312 ENST00000565916 human ensembl 74_37 +1 known rna NULL NULL 0.126 - - - no_errors AC002550.5 Clone_based_vega_gene ENSG00000261312 127 1 0.78125 78 25 24.2718 KNOP1 0 genome.wustl.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 19722724 19722724 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.536 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 184 0 0 113 27 19.2857 ENSG00000261312 0 genome.wustl.edu 37 16 19726362 19726363 + RNA INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 19726362 19726363 - A INS ENSG00000261312 ENST00000565916 human ensembl 74_37 +1 known rna NULL NULL 0.848:0.763 - - - no_errors AC002550.5 Clone_based_vega_gene ENSG00000261312 50 0 0 27 12 30.7692 NTHL1 0 genome.wustl.edu 37 16 2096133 2096133 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2096133 2096133 G - DEL NTHL1 ENST00000219066 human ensembl 74_37 -1 known frame_shift_del c.374 p.P125fs 1.000 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 195 0 0 201 23 10.2679 RBBP6 0 genome.wustl.edu 37 16 24582804 24582804 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 24582804 24582804 A - DEL RBBP6 ENST00000319715 human ensembl 74_37 +1 known frame_shift_del c.4417 p.T1475fs 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 60 0 0 48 10 17.2414 SRRM2 0 genome.wustl.edu 37 16 2816741 2816743 + In_Frame_Del DEL CTC CTC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 2816741 2816743 CTC - DEL SRRM2 ENST00000301740 human ensembl 74_37 +1 known in_frame_del c.6212_6214 p.P2073in_frame_del 1.000:0.999:1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 127 0 0 58 25 30.1205 SH2B1 0 genome.wustl.edu 37 16 28883208 28883208 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 28883208 28883208 C - DEL SH2B1 ENST00000322610 human ensembl 74_37 +1 known frame_shift_del c.1417 p.R475fs 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 158 0 0 97 29 23.0159 ATP2A1 0 genome.wustl.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 28913639 28913640 - C INS ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_ins c.2456_2457 p.R822fs 0.996:0.957 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 170 1 0.584795 127 30 19.1083 MAZ 0 genome.wustl.edu 37 16 29818054 29818054 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29818054 29818054 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.32 p.F14fs 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 18 0 0 9 7 43.75 MAZ 0 genome.wustl.edu 37 16 29821005 29821006 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29821005 29821006 - G INS MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_ins c.1424_1425 p.A478fs 1.000:0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 23 0 0 14 2 12.5 KCTD13 0 genome.wustl.edu 37 16 29923364 29923364 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 29923364 29923364 T - DEL KCTD13 ENST00000308768 human ensembl 74_37 -1 known frame_shift_del c.421 p.R141fs 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC ENSG00000174943 18 0 0 7 8 53.3333 AXIN1 0 genome.wustl.edu 37 16 347093 347093 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 347093 347093 C - DEL AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_del c.1918 p.E640fs 0.998 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 301 0 0 240 18 6.97674 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 15 0 0 7 2 22.2222 PHKB 0 genome.wustl.edu 37 16 47684785 47684785 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 47684785 47684785 A - DEL PHKB ENST00000299167 human ensembl 74_37 +1 known frame_shift_del c.1924 p.G644fs 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 80 0 0 80 21 20.7921 PPL 0 genome.wustl.edu 37 16 4944500 4944500 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 4944500 4944500 G - DEL PPL ENST00000345988 human ensembl 74_37 -1 known frame_shift_del c.1362 p.T455fs 0.933 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 91 0 0 62 20 24.3902 SLC9A5 0 genome.wustl.edu 37 16 67286519 67286519 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 67286519 67286519 G - DEL SLC9A5 ENST00000299798 human ensembl 74_37 +1 known frame_shift_del c.262 p.G89fs 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 180 0 0 130 42 24.4186 WWP2 0 genome.wustl.edu 37 16 69973863 69973864 + RNA INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 69973863 69973864 - C INS WWP2 ENST00000544162 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.042 - - - no_errors WWP2 HGNC ENSG00000198373 29 0 0 18 6 25 CLEC18C 0 genome.wustl.edu 37 16 70219848 70219849 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 70219848 70219849 - A INS CLEC18C ENST00000314151 human ensembl 74_37 +1 known frame_shift_ins c.1272_1273 p.T425fs 0.983:0.999 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CLEC18C HGNC ENSG00000157335 116 0 0 87 8 8.42105 CHST4 0 genome.wustl.edu 37 16 71570593 71570593 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 71570593 71570593 A - DEL CHST4 ENST00000338482 human ensembl 74_37 +1 known frame_shift_del c.13 p.M7fs 0.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 95 0 0 120 8 6.25 ZFHX3 0 genome.wustl.edu 37 16 72822586 72822586 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 72822586 72822586 G - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.9589 p.Q3197fs 0.870 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 167 0 0 187 17 8.33333 MBTPS1 0 genome.wustl.edu 37 16 84103636 84103636 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 84103636 84103636 T - DEL MBTPS1 ENST00000343411 human ensembl 74_37 -1 known frame_shift_del c.1790 p.N597fs 0.754 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 111 0 0 91 15 14.1509 CPNE7 0 genome.wustl.edu 37 16 89644102 89644102 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 16 89644102 89644102 G - DEL CPNE7 ENST00000268720 human ensembl 74_37 +1 known frame_shift_del c.330 p.G112fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE7 HGNC ENSG00000178773 16 0 0 9 6 40 SERPINF1 0 genome.wustl.edu 37 17 1674430 1674431 + Frame_Shift_Ins INS - - CC TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 1674430 1674431 - CC INS SERPINF1 ENST00000254722 human ensembl 74_37 +1 known frame_shift_ins c.391_392 p.Q133fs 0.614:0.627 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF1 HGNC ENSG00000132386 78 0 0 60 8 11.7647 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 41 0 0 23 21 47.7273 RAI1 0 genome.wustl.edu 37 17 17698653 17698653 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 17698653 17698653 C - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known frame_shift_del c.2391 p.P799fs 0.055 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 50 0 0 27 8 22.8571 SLC47A1 0 genome.wustl.edu 37 17 19459098 19459098 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 19459098 19459098 C - DEL SLC47A1 ENST00000571335 human ensembl 74_37 +1 novel frame_shift_del c.144 p.T51fs 0.000 NULL pfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 62 0 0 30 9 23.0769 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 135 0 0 132 16 10.8108 UBBP4 0 genome.wustl.edu 37 17 21731034 21731034 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 21731034 21731034 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.336 p.D115fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 110 0 0 71 6 7.79221 KSR1 0 genome.wustl.edu 37 17 25909933 25909933 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 25909933 25909933 C - DEL KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_del c.782 p.R263fs 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 35 0 0 24 13 35.1351 CLUH 0 genome.wustl.edu 37 17 2601713 2601713 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 2601713 2601713 C - DEL CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_del c.1324 p.D442fs 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 69 0 0 59 8 11.9403 TMEM97 0 genome.wustl.edu 37 17 26653807 26653808 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 26653807 26653808 AA - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519_520 p.K176fs 1.000:1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 71 0 0 66 34 34 KIAA0100 0 genome.wustl.edu 37 17 26966334 26966334 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 26966334 26966334 T - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.1228 p.R410fs 0.999 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 134 0 0 93 32 25.6 EFCAB5 0 genome.wustl.edu 37 17 28382913 28382913 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 28382913 28382913 A - DEL EFCAB5 ENST00000394835 human ensembl 74_37 +1 known frame_shift_del c.2202 p.K736fs 0.005 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 60 0 0 60 12 16.6667 CPD 0 genome.wustl.edu 37 17 28791832 28791832 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 28791832 28791832 A - DEL CPD ENST00000225719 human ensembl 74_37 +1 known frame_shift_del c.4143 p.*1381fs 0.988 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 64 0 0 45 10 18.1818 NF1 0 genome.wustl.edu 37 17 29592335 29592336 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 29592335 29592336 - T INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.4813_4814 p.Y1607fs 1.000:1.000 superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 93 0 0 40 13 24.5283 RAB11FIP4 0 genome.wustl.edu 37 17 29758897 29758898 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 29758897 29758898 - G INS RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known frame_shift_ins c.226_227 p.V78fs 1.000:0.979 pfscan_EF_hand_dom pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 121 0 0 102 7 6.42202 HNF1B 0 genome.wustl.edu 37 17 36059174 36059174 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 36059174 36059174 G - DEL HNF1B ENST00000225893 human ensembl 74_37 -1 known frame_shift_del c.1561 p.Q521fs 1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 100 0 0 62 12 16.2162 TOP2A 0 genome.wustl.edu 37 17 38546381 38546381 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 38546381 38546381 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.4303 p.R1435fs 0.997 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 37 0 0 19 9 32.1429 RAMP2 0 genome.wustl.edu 37 17 40914762 40914762 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 40914762 40914762 C - DEL RAMP2 ENST00000253796 human ensembl 74_37 +1 known frame_shift_del c.420 p.P142fs 1.000 pfam_RAMP pfam_RAMP - no_errors RAMP2 HGNC ENSG00000131477 95 0 0 51 16 23.8806 ITGA2B 0 genome.wustl.edu 37 17 42453086 42453087 + Splice_Site INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 42453086 42453087 - G INS ITGA2B ENST00000262407 human ensembl 74_37 -1 known splice_site_ins c.2602-3_2602-2 e26-2 0.946:0.138 - - - no_errors ITGA2B HGNC ENSG00000005961 12 0 0 5 6 54.5455 ENSG00000233175 0 genome.wustl.edu 37 17 43317791 43317791 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 43317791 43317791 C - DEL ENSG00000233175 ENST00000393507 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 32 0 0 33 8 19.5122 HOXB3 0 genome.wustl.edu 37 17 46629396 46629396 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 46629396 46629396 G - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.441 p.G148fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 641 0 0 412 102 19.8444 HOXB3 0 genome.wustl.edu 37 17 46629736 46629737 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 46629736 46629737 - G INS HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_ins c.101_100 p.Q34fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 77 0 0 48 29 37.6623 ZNF652 0 genome.wustl.edu 37 17 47394555 47394555 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 47394555 47394555 T - DEL ZNF652 ENST00000362063 human ensembl 74_37 -1 known frame_shift_del c.533 p.K178fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 109 0 0 121 15 11.0294 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 117 0 0 40 53 56.9892 CACNA1G 0 genome.wustl.edu 37 17 48703920 48703920 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48703920 48703920 C - DEL CACNA1G ENST00000359106 human ensembl 74_37 +1 known frame_shift_del c.6942 p.E2317fs 0.996 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 19 0 0 6 4 40 CACNA1G 0 genome.wustl.edu 37 17 48704019 48704019 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 48704019 48704019 C - DEL CACNA1G ENST00000359106 human ensembl 74_37 +1 known frame_shift_del c.7041 p.P2349fs 0.691 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 96 0 0 71 8 10.1266 KIF2B 0 genome.wustl.edu 37 17 51902014 51902014 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 51902014 51902014 A - DEL KIF2B ENST00000268919 human ensembl 74_37 +1 known frame_shift_del c.1620 p.K542fs 0.032 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 77 0 0 68 11 13.9241 VPS53 0 genome.wustl.edu 37 17 530426 530427 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 530426 530427 - A INS VPS53 ENST00000437048 human ensembl 74_37 -1 known frame_shift_ins c.962_961 p.C321fs 1.000:1.000 pfam_Vps53_N pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 90 0 0 66 18 21.4286 NOG 0 genome.wustl.edu 37 17 54671923 54671923 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 54671923 54671923 G - DEL NOG ENST00000332822 human ensembl 74_37 +1 known frame_shift_del c.339 p.A115fs 0.994 pfam_Noggin,pirsf_Noggin pfam_Noggin,pirsf_Noggin - no_errors NOG HGNC ENSG00000183691 16 0 0 18 8 30.7692 MED13 0 genome.wustl.edu 37 17 60087992 60087992 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 60087992 60087992 A - DEL MED13 ENST00000397786 human ensembl 74_37 -1 known frame_shift_del c.1886 p.L629fs 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 55 0 0 24 15 38.4615 LRRC37A3 0 genome.wustl.edu 37 17 62856351 62856352 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 62856351 62856352 - T INS LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known frame_shift_ins c.3913_3912 p.Y1304fs 0.000:0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 295 0 0 202 67 24.9071 AXIN2 0 genome.wustl.edu 37 17 63532585 63532585 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 63532585 63532585 C - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.1994 p.G665fs 0.436 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 74 0 0 76 7 8.43373 AXIN2 0 genome.wustl.edu 37 17 63554128 63554128 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 63554128 63554128 C - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.611 p.G204fs 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 101 0 0 59 6 9.23077 C17orf58 0 genome.wustl.edu 37 17 65989061 65989061 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 65989061 65989061 A - DEL C17orf58 ENST00000334461 human ensembl 74_37 -1 known frame_shift_del c.202 p.W68fs 0.000 NULL NULL - no_errors C17orf58 HGNC ENSG00000186665 53 0 0 58 17 22.6667 SDK2 0 genome.wustl.edu 37 17 71426726 71426726 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 71426726 71426726 G - DEL SDK2 ENST00000392650 human ensembl 74_37 -1 known frame_shift_del c.1507 p.Q503fs 0.998 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 21 0 0 28 4 12.5 KIAA0195 0 genome.wustl.edu 37 17 73484877 73484878 + Frame_Shift_Ins INS - - CC TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73484877 73484878 - CC INS KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_ins c.650_651 p.F220fs 1.000:1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 134 0 0 111 23 17.1642 KIAA0195 0 genome.wustl.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 73491063 73491063 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.2676 p.S895fs 0.999 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 152 0 0 100 44 30.5556 ZBTB4 0 genome.wustl.edu 37 17 7370110 7370110 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7370110 7370110 G - DEL ZBTB4 ENST00000311403 human ensembl 74_37 -1 known frame_shift_del c.11 p.P4fs 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 15 0 0 10 6 37.5 SNORA67 0 genome.wustl.edu 37 17 7483111 7483113 + RNA DEL CTC CTC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7483111 7483113 CTC - DEL SNORA67 ENST00000581621 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors SNORA67 HGNC ENSG00000264772 70 0 0 48 16 25 SEC14L1 0 genome.wustl.edu 37 17 75189625 75189626 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 75189625 75189626 - A INS SEC14L1 ENST00000392476 human ensembl 74_37 +1 known frame_shift_ins c.468_469 p.G158fs 1.000:1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 80 0 0 64 20 23.8095 WRAP53 0 genome.wustl.edu 37 17 7592173 7592173 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7592173 7592173 G - DEL WRAP53 ENST00000316024 human ensembl 74_37 +1 known frame_shift_del c.207 p.D71fs 0.025 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 143 0 0 115 23 16.6667 AFMID 0 genome.wustl.edu 37 17 76186988 76186988 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 76186988 76186988 G - DEL AFMID ENST00000591538 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AFMID HGNC ENSG00000183077 23 0 0 6 6 50 DNAH17 0 genome.wustl.edu 37 17 76471925 76471926 + RNA INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 76471925 76471926 - A INS DNAH17 ENST00000586052 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DNAH17 HGNC ENSG00000187775 38 0 0 27 5 15.625 DNAH2 0 genome.wustl.edu 37 17 7663182 7663183 + Frame_Shift_Del DEL TC TC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 7663182 7663183 TC - DEL DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_del c.2711_2712 p.S905fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 334 0 0 243 72 22.8571 ASPSCR1 0 genome.wustl.edu 37 17 79954545 79954545 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 79954545 79954545 G - DEL ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known frame_shift_del c.756 p.G254fs 0.999 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 59 0 0 59 12 16.9014 HEXDC 0 genome.wustl.edu 37 17 80400298 80400298 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 17 80400298 80400298 G - DEL HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_del c.1588 p.A532fs 0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 81 0 0 81 7 7.95455 RNMT 0 genome.wustl.edu 37 18 13746253 13746253 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 13746253 13746253 A - DEL RNMT ENST00000262173 human ensembl 74_37 +1 known frame_shift_del c.1174 p.T394fs 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 73 0 0 29 15 34.0909 B4GALT6 0 genome.wustl.edu 37 18 29207063 29207063 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 29207063 29207063 A - DEL B4GALT6 ENST00000306851 human ensembl 74_37 -1 known frame_shift_del c.798 p.F266fs 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 44 0 0 31 11 26.1905 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 27 0 0 16 9 36 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 85 0 0 64 18 21.9512 ZBTB7C 0 genome.wustl.edu 37 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 45567076 45567076 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.403 p.E135fs 0.994 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 ZBTB7C HGNC ENSG00000184828 47 0 0 15 10 40 SMAD7 0 genome.wustl.edu 37 18 46474795 46474795 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 46474795 46474795 G - DEL SMAD7 ENST00000262158 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 1.000 superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC ENSG00000101665 64 0 0 52 9 14.7541 ELAC1 0 genome.wustl.edu 37 18 48510941 48510941 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 48510941 48510941 T - DEL ELAC1 ENST00000591429 human ensembl 74_37 +1 putative frame_shift_del c.633 p.F213fs 0.000 NULL pfam_Beta-lactamas-like - no_errors ELAC1 HGNC ENSG00000141642 29 0 0 20 5 20 SERPINB7 0 genome.wustl.edu 37 18 61460422 61460423 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 61460422 61460423 - T INS SERPINB7 ENST00000336429 human ensembl 74_37 +1 known frame_shift_ins c.247_248 p.S85fs 0.120:0.157 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 28 0 0 35 5 12.5 LAMA1 0 genome.wustl.edu 37 18 7016544 7016544 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 18 7016544 7016544 T - DEL LAMA1 ENST00000389658 human ensembl 74_37 -1 known frame_shift_del c.2935 p.R979fs 0.179 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 99 0 0 73 13 15.1163 RAVER1 0 genome.wustl.edu 37 19 10434093 10434093 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 10434093 10434093 G - DEL RAVER1 ENST00000293677 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.211 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 27 0 0 12 8 40 ZNF791 0 genome.wustl.edu 37 19 12739501 12739502 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 12739501 12739502 - A INS ZNF791 ENST00000343325 human ensembl 74_37 +1 known frame_shift_ins c.1158_1159 p.C388fs 0.792:0.642 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 ZNF791 HGNC ENSG00000173875 88 0 0 60 19 24.0506 FBXW9 0 genome.wustl.edu 37 19 12800973 12800974 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 12800973 12800974 - C INS FBXW9 ENST00000380339 human ensembl 74_37 -1 known frame_shift_ins c.925_924 p.P308fs 0.001:0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 44 0 0 35 11 23.913 HOOK2 0 genome.wustl.edu 37 19 12876754 12876754 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 12876754 12876754 C - DEL HOOK2 ENST00000397668 human ensembl 74_37 -1 known frame_shift_del c.1586 p.G529fs 0.814 pfam_Hook-related_fam,superfamily_UBA-like pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 105 0 0 80 23 22.3301 CACNA1A 0 genome.wustl.edu 37 19 13397458 13397459 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 13397458 13397459 - G INS CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_ins c.3412_3411 p.K1137fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 55 0 0 40 10 20 RPS15 0 genome.wustl.edu 37 19 1438819 1438821 + In_Frame_Del DEL AGA AGA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 1438819 1438821 AGA - DEL RPS15 ENST00000586686 human ensembl 74_37 +1 known in_frame_del c.17_19 p.K9in_frame_del 1.000:1.000:1.000 pirsf_Ribosomal_S19 pfam_Ribosomal_S19,superfamily_Ribosomal_S19_SF,pirsf_Ribosomal_S19,prints_Ribosomal_S19,tigrfam_Ribosomal_S19A/S15e - no_errors RPS15 HGNC ENSG00000115268 23 0 0 21 4 16 AP1M1 0 genome.wustl.edu 37 19 16314384 16314384 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 16314384 16314384 G - DEL AP1M1 ENST00000444449 human ensembl 74_37 +1 known frame_shift_del c.157 p.V55fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 116 0 0 79 26 24.7619 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 104 1 0.952381 54 14 20.5882 ZNF682 0 genome.wustl.edu 37 19 20116856 20116856 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 20116856 20116856 T - DEL ZNF682 ENST00000397165 human ensembl 74_37 -1 known frame_shift_del c.1455 p.K485fs 0.035 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 44 0 0 49 8 14.0351 ZNF43 0 genome.wustl.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 21992087 21992087 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.752 p.N251fs 0.932 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 ZNF43 HGNC ENSG00000198521 61 0 0 18 18 50 ZNF536 0 genome.wustl.edu 37 19 30935465 30935465 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 30935465 30935465 G - DEL ZNF536 ENST00000355537 human ensembl 74_37 +1 known frame_shift_del c.996 p.G333fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 262 0 0 206 77 27.2085 FAM187B 0 genome.wustl.edu 37 19 35716084 35716084 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 35716084 35716084 G - DEL FAM187B ENST00000324675 human ensembl 74_37 -1 known frame_shift_del c.754 p.L252fs 0.160 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 10 0 0 10 5 33.3333 KMT2B 0 genome.wustl.edu 37 19 36216189 36216189 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36216189 36216189 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3597 p.P1201fs 0.130 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 44 0 0 23 15 39.4737 KMT2B 0 genome.wustl.edu 37 19 36223002 36223002 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36223002 36223002 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5631 p.G1879fs 0.997 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 22 0 0 16 6 27.2727 KIRREL2 0 genome.wustl.edu 37 19 36357214 36357214 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 36357214 36357214 C - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.1947 p.C652fs 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 128 0 0 75 25 25 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 26 0 0 24 7 22.5806 DLL3 0 genome.wustl.edu 37 19 39998572 39998572 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 39998572 39998572 C - DEL DLL3 ENST00000205143 human ensembl 74_37 +1 known frame_shift_del c.1776 p.P594fs 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 44 0 0 30 11 26.8293 FCGBP 0 genome.wustl.edu 37 19 40421121 40421121 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40421121 40421121 C - DEL FCGBP ENST00000221347 human ensembl 74_37 -1 known frame_shift_del c.2800 p.V934fs 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 58 0 0 65 7 9.72222 PRX 0 genome.wustl.edu 37 19 40900486 40900486 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 40900486 40900486 C - DEL PRX ENST00000324001 human ensembl 74_37 -1 known frame_shift_del c.3773 p.G1258fs 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 32 0 0 29 8 21.6216 CCDC94 0 genome.wustl.edu 37 19 4249259 4249260 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4249259 4249260 - C INS CCDC94 ENST00000262962 human ensembl 74_37 +1 known frame_shift_ins c.59_60 p.K22fs 1.000:1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 54 0 0 22 4 15.3846 TMEM145 0 genome.wustl.edu 37 19 42827892 42827893 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42827892 42827893 - G INS TMEM145 ENST00000301204 human ensembl 74_37 +1 known frame_shift_ins c.1352_1353 p.V452fs 1.000:1.000 NULL pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 148 0 0 150 12 7.40741 LIPE 0 genome.wustl.edu 37 19 42907075 42907075 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 42907075 42907075 T - DEL LIPE ENST00000244289 human ensembl 74_37 -1 known frame_shift_del c.2651 p.N884fs 0.718 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 66 0 0 55 14 20.2899 RTN2 0 genome.wustl.edu 37 19 45996513 45996513 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 45996513 45996513 G - DEL RTN2 ENST00000245923 human ensembl 74_37 -1 known frame_shift_del c.938 p.P313fs 0.005 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 161 1 0.617284 146 38 20.6522 TICAM1 0 genome.wustl.edu 37 19 4816465 4816465 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 4816465 4816465 G - DEL TICAM1 ENST00000248244 human ensembl 74_37 -1 known frame_shift_del c.1925 p.P642fs 0.003 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 45 0 0 44 16 26.6667 FAM83E 0 genome.wustl.edu 37 19 49106826 49106827 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49106826 49106827 - G INS FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_ins c.1101_1100 p.A368fs 0.001:0.032 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 34 0 0 17 5 22.7273 DBP 0 genome.wustl.edu 37 19 49134274 49134276 + In_Frame_Del DEL GTT GTT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49134274 49134276 GTT - DEL DBP ENST00000222122 human ensembl 74_37 -1 known in_frame_del c.798_796 p.N266in_frame_del 1.000:1.000:1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors DBP HGNC ENSG00000105516 47 0 0 19 3 13.6364 HRC 0 genome.wustl.edu 37 19 49657098 49657098 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49657098 49657098 G - DEL HRC ENST00000252825 human ensembl 74_37 -1 known frame_shift_del c.1397 p.P466fs 0.272 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 136 0 0 96 30 23.8095 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 302 0 0 161 65 28.7611 PTOV1 0 genome.wustl.edu 37 19 50363526 50363527 + Frame_Shift_Ins INS - - GG TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 50363526 50363527 - GG INS PTOV1 ENST00000391842 human ensembl 74_37 +1 known frame_shift_ins c.1241_1242 p.*417fs 1.000:1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 46 0 0 33 3 8.33333 ASPDH 0 genome.wustl.edu 37 19 51015680 51015682 + In_Frame_Del DEL GCC GCC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51015680 51015682 GCC - DEL ASPDH ENST00000389208 human ensembl 74_37 -1 known in_frame_del c.590_588 p.A198in_frame_del 0.994:0.975:0.202 pfam_Asp_DH pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd - no_errors ASPDH HGNC ENSG00000204653 47 0 0 34 10 22.7273 SHANK1 0 genome.wustl.edu 37 19 51192559 51192559 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51192559 51192559 G - DEL SHANK1 ENST00000391813 human ensembl 74_37 -1 known frame_shift_del c.103 p.H35fs 0.020 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK1 HGNC ENSG00000161681 58 0 0 58 8 12.1212 ENSG00000268889 0 genome.wustl.edu 37 19 51906670 51906670 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51906670 51906670 T - DEL ENSG00000268889 ENST00000600765 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors CTD-2616J11.14 Clone_based_vega_gene ENSG00000268889 38 0 0 36 8 18.1818 SIGLEC10 0 genome.wustl.edu 37 19 51919372 51919372 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51919372 51919372 T - DEL SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known frame_shift_del c.804 p.G269fs 0.354 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 8 0 0 9 4 30.7692 SIGLEC8 0 genome.wustl.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 51961617 51961619 GCA - DEL SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known in_frame_del c.25_23 p.L8in_frame_del 0.633:0.759:0.808 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 117 1 0.847458 80 23 22.3301 ZNF649 0 genome.wustl.edu 37 19 52394014 52394014 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 52394014 52394014 C - DEL ZNF649 ENST00000354957 human ensembl 74_37 -1 known frame_shift_del c.1375 p.D459fs 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF649 HGNC ENSG00000198093 242 0 0 130 39 23.0769 ZNF616 0 genome.wustl.edu 37 19 52620073 52620074 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 52620073 52620074 - G INS ZNF616 ENST00000600228 human ensembl 74_37 -1 known frame_shift_ins c.344_343 p.H115fs 0.000:0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 119 0 0 57 20 25.974 CACNG8 0 genome.wustl.edu 37 19 54483177 54483177 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 54483177 54483177 G - DEL CACNG8 ENST00000270458 human ensembl 74_37 +1 known frame_shift_del c.424 p.G143fs 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 34 0 0 28 11 28.2051 IL11 0 genome.wustl.edu 37 19 55877434 55877435 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 55877434 55877435 - C INS IL11 ENST00000264563 human ensembl 74_37 -1 known frame_shift_ins c.541_540 p.L180fs 0.932:0.882 pfam_IL-11,superfamily_4_helix_cytokine-like_core pfam_IL-11,superfamily_4_helix_cytokine-like_core,prints_IL-11_mml,prints_IL-11 - no_errors IL11 HGNC ENSG00000095752 10 0 0 18 5 21.7391 U2AF2 0 genome.wustl.edu 37 19 56173906 56173906 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56173906 56173906 G - DEL U2AF2 ENST00000308924 human ensembl 74_37 +1 known frame_shift_del c.525 p.L178fs 0.923 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 71 0 0 53 22 29.3333 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 28 0 0 15 8 34.7826 NLRP8 0 genome.wustl.edu 37 19 56482022 56482022 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 56482022 56482022 G - DEL NLRP8 ENST00000291971 human ensembl 74_37 +1 known frame_shift_del c.2494 p.A833fs 0.000 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 NLRP8 HGNC ENSG00000179709 168 0 0 120 31 20.5298 C19orf70 0 genome.wustl.edu 37 19 5679654 5679654 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 5679654 5679654 G - DEL C19orf70 ENST00000309324 human ensembl 74_37 -1 known frame_shift_del c.150 p.A51fs 0.000 NULL NULL - no_errors C19orf70 HGNC ENSG00000174917 109 0 0 88 19 17.757 ZNF416 0 genome.wustl.edu 37 19 58084579 58084579 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 58084579 58084579 A - DEL ZNF416 ENST00000196489 human ensembl 74_37 -1 known frame_shift_del c.693 p.H232fs 0.065 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ENSG00000083817 185 0 0 138 33 19.2982 DENND1C 0 genome.wustl.edu 37 19 6468936 6468936 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 6468936 6468936 C - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.1436 p.G479fs 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 27 0 0 20 7 25.9259 FBN3 0 genome.wustl.edu 37 19 8196625 8196625 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8196625 8196625 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.1803 p.L602fs 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 49 0 0 37 14 27.451 KANK3 0 genome.wustl.edu 37 19 8387793 8387793 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 19 8387793 8387793 G - DEL KANK3 ENST00000330915 human ensembl 74_37 -1 known frame_shift_del c.2396 p.P799fs 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 36 0 0 29 8 21.6216 NPAS2 0 genome.wustl.edu 37 2 101564794 101564794 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 101564794 101564794 C - DEL NPAS2 ENST00000542504 human ensembl 74_37 +1 known frame_shift_del c.656 p.S221fs 0.973 pfam_PAS_fold pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 37 0 0 25 2 7.40741 MFSD9 0 genome.wustl.edu 37 2 103334977 103334978 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 103334977 103334978 - G INS MFSD9 ENST00000258436 human ensembl 74_37 -1 known frame_shift_ins c.1327_1326 p.S442fs 0.000:0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 57 0 0 44 10 18.5185 ATP6V1C2 0 genome.wustl.edu 37 2 10917818 10917819 + Frame_Shift_Ins INS - - AG TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 10917818 10917819 - AG INS ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known frame_shift_ins c.933_934 p.E315fs 1.000:1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 110 1 0.900901 69 17 19.7674 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 25 0 0 19 5 20.8333 BUB1 0 genome.wustl.edu 37 2 111399006 111399006 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 111399006 111399006 T - DEL BUB1 ENST00000302759 human ensembl 74_37 -1 known frame_shift_del c.2661 p.V888fs 0.995 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_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 125 0 0 87 32 26.8908 ROCK2 0 genome.wustl.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 11389837 11389837 A - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.412 p.W138fs 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_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 129 0 0 100 6 5.66038 FOXD4L1 0 genome.wustl.edu 37 2 114257058 114257059 + In_Frame_Ins INS - - GGC TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 114257058 114257059 - GGC INS FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known in_frame_ins c.225_226 p.78in_frame_insG 0.000:0.003 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 34 0 0 38 4 9.52381 DDX18 0 genome.wustl.edu 37 2 118582216 118582216 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 118582216 118582216 A - DEL DDX18 ENST00000263239 human ensembl 74_37 +1 known frame_shift_del c.1138 p.K381fs 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 143 0 0 100 25 20 LRP1B 0 genome.wustl.edu 37 2 141115623 141115624 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 141115623 141115624 - T INS LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_ins c.11320_11319 p.C3773fs 1.000:0.565 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 90 0 0 58 23 28.3951 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 86 0 0 39 44 53.012 PRPF40A 0 genome.wustl.edu 37 2 153526849 153526849 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 153526849 153526849 T - DEL PRPF40A ENST00000410080 human ensembl 74_37 -1 known frame_shift_del c.1526 p.N509fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 29 0 0 32 6 15.7895 FIGN 0 genome.wustl.edu 37 2 164467542 164467543 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 164467542 164467543 - C INS FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_ins c.800_799 p.A267fs 1.000:1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 91 0 0 48 19 28.3582 FIGN 0 genome.wustl.edu 37 2 164468131 164468132 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 164468131 164468132 - T INS FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_ins c.211_210 p.Y70fs 1.000:0.998 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 159 0 0 117 30 20.4082 PXDN 0 genome.wustl.edu 37 2 1652960 1652960 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 1652960 1652960 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2592 p.N865fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 51 0 0 32 14 30.4348 GRB14 0 genome.wustl.edu 37 2 165353943 165353944 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 165353943 165353944 CT - DEL GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_del c.1162_1161 p.R387fs 1.000:1.000 pfam_BPS-dom pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 71 0 0 43 19 30.6452 GRB14 0 genome.wustl.edu 37 2 165365340 165365340 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 165365340 165365340 A - DEL GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_del c.839 p.F280fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 83 0 0 72 11 13.253 SCN1A 0 genome.wustl.edu 37 2 166894520 166894520 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 166894520 166894520 A - DEL SCN1A ENST00000303395 human ensembl 74_37 -1 known frame_shift_del c.2712 p.F904fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 177 0 0 121 32 20.915 ITGA6 0 genome.wustl.edu 37 2 173335732 173335733 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 173335732 173335733 - T INS ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_ins c.674_675 p.D228fs 1.000:1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 69 0 0 34 21 38.1818 ITGA6 0 genome.wustl.edu 37 2 173339813 173339813 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 173339813 173339813 A - DEL ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_del c.1260 p.N422fs 0.051 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 ITGA6 HGNC ENSG00000091409 43 0 0 32 13 28.8889 HOXD8 0 genome.wustl.edu 37 2 176995416 176995417 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 176995416 176995417 - C INS HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_ins c.322_323 p.P111fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 67 0 0 89 24 21.2389 HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 67 0 0 86 27 23.8938 RBM45 0 genome.wustl.edu 37 2 178988920 178988921 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 178988920 178988921 AA - DEL RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_del c.1135_1136 p.K381fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 84 0 0 53 21 28.3784 OSBPL6 0 genome.wustl.edu 37 2 179193015 179193016 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179193015 179193016 - A INS OSBPL6 ENST00000315022 human ensembl 74_37 +1 known frame_shift_ins c.165_166 p.I56fs 1.000:1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 74 0 0 50 10 16.6667 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 21 0 0 11 8 42.1053 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 14 0 0 11 7 38.8889 CERKL 0 genome.wustl.edu 37 2 182403983 182403983 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 182403983 182403983 A - DEL CERKL ENST00000339098 human ensembl 74_37 -1 known frame_shift_del c.1452 p.P485fs 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 42 0 0 33 12 26.6667 FSIP2 0 genome.wustl.edu 37 2 186670036 186670037 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 186670036 186670037 - A INS FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_ins c.16270_16271 p.M5426fs 1.000:0.999 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 45 0 0 46 8 14.8148 FSIP2 0 genome.wustl.edu 37 2 186673387 186673387 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 186673387 186673387 A - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.19621 p.V6543fs 0.014 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 33 0 0 27 8 22.8571 OSGEPL1 0 genome.wustl.edu 37 2 190620089 190620089 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 190620089 190620089 T - DEL OSGEPL1 ENST00000264151 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 0.997 pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 48 0 0 39 15 27.7778 DNAH7 0 genome.wustl.edu 37 2 196834715 196834715 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 196834715 196834715 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.2162 p.K721fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 39 0 0 20 28 58.3333 AOX1 0 genome.wustl.edu 37 2 201473949 201473949 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 201473949 201473949 A - DEL AOX1 ENST00000465297 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AOX1 HGNC ENSG00000138356 21 0 0 20 4 16.6667 GCSHP3 0 genome.wustl.edu 37 2 206980715 206980715 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 206980715 206980715 T - DEL GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 11 0 0 3 4 57.1429 GPR1 0 genome.wustl.edu 37 2 207041592 207041592 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 207041592 207041592 A - DEL GPR1 ENST00000407325 human ensembl 74_37 -1 known frame_shift_del c.380 p.F127fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR1_orph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt - no_errors GPR1 HGNC ENSG00000183671 131 0 0 90 29 24.3697 MAP2 0 genome.wustl.edu 37 2 210561667 210561667 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 210561667 210561667 A - DEL MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_del c.4414 p.T1474fs 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 36 0 0 21 23 52.2727 ZNF142 0 genome.wustl.edu 37 2 219521067 219521067 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 219521067 219521067 G - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.86 p.P29fs 0.731 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 63 0 0 66 8 10.8108 TTLL4 0 genome.wustl.edu 37 2 219602834 219602834 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 219602834 219602834 T - DEL TTLL4 ENST00000258398 human ensembl 74_37 +1 known frame_shift_del c.435 p.S147fs 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 169 0 0 127 22 14.7651 CNPPD1 0 genome.wustl.edu 37 2 220037570 220037570 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 220037570 220037570 G - DEL CNPPD1 ENST00000360507 human ensembl 74_37 -1 known frame_shift_del c.971 p.P324fs 0.872 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 76 0 0 46 48 51.0638 ECEL1 0 genome.wustl.edu 37 2 233350773 233350774 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 233350773 233350774 - C INS ECEL1 ENST00000304546 human ensembl 74_37 -1 known frame_shift_ins c.591_590 p.R199fs 0.997:1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 21 0 0 18 8 30.7692 TRPM8 0 genome.wustl.edu 37 2 234879009 234879010 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 234879009 234879010 - C INS TRPM8 ENST00000324695 human ensembl 74_37 +1 known frame_shift_ins c.2294_2295 p.E768fs 0.005:0.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 381 1 0.26178 284 54 15.9763 AGAP1 0 genome.wustl.edu 37 2 236649672 236649672 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 236649672 236649672 G - DEL AGAP1 ENST00000304032 human ensembl 74_37 +1 known frame_shift_del c.376 p.G127fs 1.000 pfam_MIRO-like,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_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 63 0 0 67 5 6.94444 GPR113 0 genome.wustl.edu 37 2 26534413 26534413 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 26534413 26534413 C - DEL GPR113 ENST00000333478 human ensembl 74_37 -1 known frame_shift_del c.1586 p.G529fs 0.991 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 131 0 0 105 25 19.2308 DPYSL5 0 genome.wustl.edu 37 2 27162904 27162905 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27162904 27162905 CT - DEL DPYSL5 ENST00000288699 human ensembl 74_37 +1 known frame_shift_del c.953_954 p.L319fs 1.000:0.997 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 103 0 0 67 28 29.4737 ENSG00000272056 0 genome.wustl.edu 37 2 27276505 27276505 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27276505 27276505 T - DEL ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 24 0 0 12 5 29.4118 EMILIN1 0 genome.wustl.edu 37 2 27305785 27305786 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27305785 27305786 - G INS EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_ins c.1346_1347 p.L452fs 1.000:0.997 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 28 0 0 33 9 21.4286 EMILIN1 0 genome.wustl.edu 37 2 27306611 27306611 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27306611 27306611 G - DEL EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_del c.2172 p.R726fs 1.000 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 139 0 0 134 26 16.25 SLC30A3 0 genome.wustl.edu 37 2 27480186 27480186 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 27480186 27480186 G - DEL SLC30A3 ENST00000233535 human ensembl 74_37 -1 known frame_shift_del c.613 p.H205fs 0.996 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 29 0 0 27 8 22.8571 SULT6B1 0 genome.wustl.edu 37 2 37414553 37414553 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 37414553 37414553 T - DEL SULT6B1 ENST00000535679 human ensembl 74_37 -1 known frame_shift_del c.257 p.K86fs 0.944 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 28 0 0 14 9 39.1304 PPM1B 0 genome.wustl.edu 37 2 44428501 44428501 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 44428501 44428501 T - DEL PPM1B ENST00000282412 human ensembl 74_37 +1 known frame_shift_del c.163 p.F56fs 0.999 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 187 0 0 169 24 12.4352 MTIF2 0 genome.wustl.edu 37 2 55489457 55489457 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 55489457 55489457 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.326 p.N109fs 0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 80 0 0 65 20 23.5294 UGP2 0 genome.wustl.edu 37 2 64069278 64069281 + RNA DEL AAAA AAAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 64069278 64069281 AAAA - DEL UGP2 ENST00000484056 human ensembl 74_37 +1 known rna NULL NULL 0.271:0.359:0.509:0.020 - - - no_errors UGP2 HGNC ENSG00000169764 94 0 0 50 23 31.5068 ETAA1 0 genome.wustl.edu 37 2 67626691 67626692 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 67626691 67626692 - A INS ETAA1 ENST00000272342 human ensembl 74_37 +1 known frame_shift_ins c.362_363 p.Q124fs 1.000:1.000 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 37 0 0 13 8 38.0952 GKN2 0 genome.wustl.edu 37 2 69179986 69179987 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 69179986 69179987 - T INS GKN2 ENST00000328895 human ensembl 74_37 -1 known frame_shift_ins c.8_7 p.I3fs 0.065:0.550 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors GKN2 HGNC ENSG00000183607 59 0 0 35 7 16.6667 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 54 0 0 34 13 27.6596 DYSF 0 genome.wustl.edu 37 2 71839796 71839797 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 71839796 71839797 - C INS DYSF ENST00000413539 human ensembl 74_37 +1 known frame_shift_ins c.4286_4287 p.I1432fs 1.000:0.989 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 71 0 0 72 14 16.2791 WBP1 0 genome.wustl.edu 37 2 74687543 74687543 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 74687543 74687543 C - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.545 p.P184fs 0.962 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 171 0 0 125 41 24.6988 SUCLG1 0 genome.wustl.edu 37 2 84650856 84650857 + RNA INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 84650856 84650857 - T INS SUCLG1 ENST00000491123 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors SUCLG1 HGNC ENSG00000163541 10 0 0 8 5 38.4615 KIDINS220 0 genome.wustl.edu 37 2 8926140 8926140 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 8926140 8926140 T - DEL KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_del c.1960 p.T654fs 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 53 0 0 30 9 23.0769 MRPS5 0 genome.wustl.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 95775728 95775728 T - DEL MRPS5 ENST00000272418 human ensembl 74_37 -1 known frame_shift_del c.336 p.G113fs 0.999 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 89 0 0 65 25 27.7778 ZNF514 0 genome.wustl.edu 37 2 95815924 95815924 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 95815924 95815924 T - DEL ZNF514 ENST00000295208 human ensembl 74_37 -1 known frame_shift_del c.306 p.K102fs 0.221 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 149 0 0 137 10 6.80272 CNNM4 0 genome.wustl.edu 37 2 97427678 97427678 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 97427678 97427678 C - DEL CNNM4 ENST00000377075 human ensembl 74_37 +1 known frame_shift_del c.942 p.L316fs 1.000 pfam_DUF21 pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 110 0 0 74 23 23.7113 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 45 0 0 50 21 29.5775 ENSG00000232675 0 genome.wustl.edu 37 20 19673863 19673863 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 19673863 19673863 T - DEL ENSG00000232675 ENST00000435992 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-718D20.3 Clone_based_vega_gene ENSG00000232675 16 0 0 14 8 36.3636 RALGAPA2 0 genome.wustl.edu 37 20 20453589 20453589 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 20453589 20453589 A - DEL RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known frame_shift_del c.5379 p.F1793fs 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 51 0 0 73 23 23.9583 PAX1 0 genome.wustl.edu 37 20 21689942 21689942 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 21689942 21689942 C - DEL PAX1 ENST00000398485 human ensembl 74_37 +1 known frame_shift_del c.1142 p.P382fs 0.998 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 70 0 0 114 10 8.06452 ENTPD6 0 genome.wustl.edu 37 20 25187205 25187205 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 25187205 25187205 A - DEL ENTPD6 ENST00000376652 human ensembl 74_37 +1 known frame_shift_del c.33 p.T13fs 0.002 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 107 0 0 80 22 21.5686 FAM182B 0 genome.wustl.edu 37 20 25848639 25848639 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 25848639 25848639 C - DEL FAM182B ENST00000424021 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors FAM182B HGNC ENSG00000175170 36 0 0 23 4 14.8148 ASXL1 0 genome.wustl.edu 37 20 31022441 31022442 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 31022441 31022442 - G INS ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_ins c.1926_1927 p.G645fs 1.000:1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 30 0 0 23 5 17.8571 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 102 0 0 81 37 31.3559 PTPRT 0 genome.wustl.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 40739003 40739003 G - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.3281 p.P1094fs 0.991 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_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 69 0 0 47 24 33.8028 WISP2 0 genome.wustl.edu 37 20 43355771 43355771 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 43355771 43355771 C - DEL WISP2 ENST00000190983 human ensembl 74_37 +1 known frame_shift_del c.576 p.C194fs 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 95 0 0 90 48 34.7826 PIGT 0 genome.wustl.edu 37 20 44050026 44050026 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 44050026 44050026 C - DEL PIGT ENST00000279036 human ensembl 74_37 +1 known frame_shift_del c.1037 p.P348fs 0.666 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 58 0 0 29 13 30.9524 DDX27 0 genome.wustl.edu 37 20 47858504 47858505 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 47858504 47858505 AA - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065_2066 p.K691fs 1.000:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 144 0 0 121 30 19.8675 KCNB1 0 genome.wustl.edu 37 20 47989891 47989891 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 47989891 47989891 G - DEL KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_del c.2206 p.R736fs 1.000 prints_K_chnl_volt-dep_Kv2.1 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 111 0 0 126 40 24.0964 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 100 0 0 88 15 14.5631 SALL4 0 genome.wustl.edu 37 20 50400982 50400983 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 50400982 50400983 - C INS SALL4 ENST00000217086 human ensembl 74_37 -1 known frame_shift_ins c.2984_2983 p.V995fs 0.049:0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 84 0 0 66 32 32.6531 ZNF831 0 genome.wustl.edu 37 20 57766741 57766741 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 57766741 57766741 C - DEL ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_del c.667 p.R225fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 73 0 0 99 19 16.1017 COL9A3 0 genome.wustl.edu 37 20 61452876 61452877 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 61452876 61452877 - C INS COL9A3 ENST00000343916 human ensembl 74_37 +1 known frame_shift_ins c.363_364 p.G123fs 1.000:0.998 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 89 0 0 57 26 31.3253 TCEA2 0 genome.wustl.edu 37 20 62701542 62701542 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 20 62701542 62701542 C - DEL TCEA2 ENST00000465111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEA2 HGNC ENSG00000171703 53 0 0 63 20 24.0964 BTG3 0 genome.wustl.edu 37 21 18981461 18981462 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 18981461 18981462 - T INS BTG3 ENST00000339775 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:0.994 pfam_Anti_prolifrtn,smart_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 37 0 0 29 7 19.4444 LTN1 0 genome.wustl.edu 37 21 30338713 30338713 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 30338713 30338713 T - DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.2238 p.V747fs 0.031 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 91 0 0 49 30 37.9747 BACH1 0 genome.wustl.edu 37 21 30699050 30699050 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 30699050 30699050 A - DEL BACH1 ENST00000286800 human ensembl 74_37 +1 known frame_shift_del c.905 p.K303fs 0.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 127 0 0 96 31 24.4094 SCAF4 0 genome.wustl.edu 37 21 33074655 33074655 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 33074655 33074655 T - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.359 p.N120fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 53 0 0 31 11 26.1905 SON 0 genome.wustl.edu 37 21 34931665 34931666 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 34931665 34931666 - T INS SON ENST00000356577 human ensembl 74_37 +1 known frame_shift_ins c.6451_6452 p.N2154fs 1.000:1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 109 0 0 101 7 6.48148 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 75 0 0 24 19 44.186 TTC3 0 genome.wustl.edu 37 21 38524243 38524244 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 38524243 38524244 AA - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327_2328 p.K778fs 1.000:0.995 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 77 0 0 31 11 26.1905 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250362 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 40250362 40250362 A - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 14 0 0 5 7 58.3333 TFF1 0 genome.wustl.edu 37 21 43786578 43786578 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 43786578 43786578 G - DEL TFF1 ENST00000291527 human ensembl 74_37 -1 known frame_shift_del c.27 p.C10fs 0.013 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF1 HGNC ENSG00000160182 22 0 0 26 6 18.75 RRP1 0 genome.wustl.edu 37 21 45223630 45223632 + In_Frame_Del DEL AGA AGA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 45223630 45223632 AGA - DEL RRP1 ENST00000497547 human ensembl 74_37 +1 known in_frame_del c.1361_1363 p.K458in_frame_del 0.000:0.000:0.000 NULL pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 13 0 0 12 4 25 MCM3AP 0 genome.wustl.edu 37 21 47685951 47685951 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 21 47685951 47685951 G - DEL MCM3AP ENST00000291688 human ensembl 74_37 -1 known frame_shift_del c.2919 p.V974fs 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 259 0 0 254 16 5.92593 BMS1P20 0 genome.wustl.edu 37 22 22661174 22661174 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 22661174 22661174 C - DEL BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.876 - - - no_errors BMS1P20 HGNC ENSG00000236850 42 0 0 19 5 20.8333 GAS2L1 0 genome.wustl.edu 37 22 29707852 29707852 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 29707852 29707852 C - DEL GAS2L1 ENST00000403764 human ensembl 74_37 +1 known frame_shift_del c.1411 p.R473fs 0.986 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 35 0 0 17 12 41.3793 GAS2L1 0 genome.wustl.edu 37 22 29708273 29708273 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 29708273 29708273 G - DEL GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative frame_shift_del c.1152 p.P387fs 0.001 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 89 0 0 87 7 7.44681 SMTN 0 genome.wustl.edu 37 22 31487239 31487239 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 31487239 31487239 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.1230 p.Q412fs 0.981 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 18 0 0 15 2 11.7647 SMTN 0 genome.wustl.edu 37 22 31487368 31487369 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 31487368 31487369 - G INS SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_ins c.1359_1360 p.S455fs 1.000:1.000 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 45 0 0 47 14 22.9508 RTCB 0 genome.wustl.edu 37 22 32794006 32794006 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 32794006 32794006 T - DEL RTCB ENST00000216038 human ensembl 74_37 -1 known frame_shift_del c.736 p.M246fs 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 121 1 0.819672 86 17 16.5049 TRIOBP 0 genome.wustl.edu 37 22 38121772 38121772 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 38121772 38121772 C - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_del c.3209 p.R1072fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 104 0 0 89 10 10.101 TRIOBP 0 genome.wustl.edu 37 22 38130773 38130773 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 38130773 38130773 G - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_del c.4430 p.G1479fs 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 23 0 0 33 7 17.5 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 38897211 38897211 T - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 40 0 0 21 14 40 SLC25A17 0 genome.wustl.edu 37 22 41195058 41195058 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41195058 41195058 A - DEL SLC25A17 ENST00000435456 human ensembl 74_37 -1 known frame_shift_del c.84 p.L30fs 0.972 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A17 HGNC ENSG00000100372 22 0 0 26 15 36.5854 RANGAP1 0 genome.wustl.edu 37 22 41670616 41670618 + In_Frame_Del DEL CTT CTT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41670616 41670618 CTT - DEL RANGAP1 ENST00000356244 human ensembl 74_37 -1 known in_frame_del c.228_226 p.K76in_frame_del 0.988:1.000:1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 123 0 0 83 19 18.6275 POLR3H 0 genome.wustl.edu 37 22 41928125 41928125 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 41928125 41928125 G - DEL POLR3H ENST00000355209 human ensembl 74_37 -1 known frame_shift_del c.332 p.P111fs 1.000 pfam_RNA_pol_III_Rbc25,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8 pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8 - no_errors POLR3H HGNC ENSG00000100413 149 0 0 93 6 6.06061 ARFGAP3 0 genome.wustl.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 43213780 43213780 T - DEL ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known frame_shift_del c.896 p.N299fs 0.002 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 118 0 0 102 15 12.8205 PHF21B 0 genome.wustl.edu 37 22 45309721 45309721 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 45309721 45309721 G - DEL PHF21B ENST00000313237 human ensembl 74_37 -1 known frame_shift_del c.812 p.P271fs 0.015 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 97 0 0 89 31 25.8333 MIR1249 0 genome.wustl.edu 37 22 45596846 45596846 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 45596846 45596846 G - DEL MIR1249 ENST00000408671 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1249 HGNC ENSG00000221598 15 0 0 12 3 20 CELSR1 0 genome.wustl.edu 37 22 46765084 46765084 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 22 46765084 46765084 T - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.7944 p.I2650fs 0.044 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 118 1 0.840336 87 23 20.9091 ABI3BP 0 genome.wustl.edu 37 3 100569540 100569540 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 100569540 100569540 T - DEL ABI3BP ENST00000284322 human ensembl 74_37 -1 known frame_shift_del c.1264 p.T422fs 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 56 0 0 51 14 21.5385 SENP7 0 genome.wustl.edu 37 3 101070484 101070484 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 101070484 101070484 T - DEL SENP7 ENST00000394095 human ensembl 74_37 -1 known frame_shift_del c.1635 p.K545fs 0.977 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 23 0 0 12 4 25 SLC35A5 0 genome.wustl.edu 37 3 112299856 112299856 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 112299856 112299856 T - DEL SLC35A5 ENST00000492406 human ensembl 74_37 +1 known frame_shift_del c.892 p.Y300fs 0.192 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 49 0 0 28 9 24.3243 ZDHHC23 0 genome.wustl.edu 37 3 113679540 113679540 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 113679540 113679540 T - DEL ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.004 - - - no_errors ZDHHC23 HGNC ENSG00000184307 53 0 0 39 17 30.3571 B4GALT4 0 genome.wustl.edu 37 3 118949064 118949064 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 118949064 118949064 T - DEL B4GALT4 ENST00000460395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors B4GALT4 HGNC ENSG00000121578 16 0 0 6 4 40 SEMA5B 0 genome.wustl.edu 37 3 122667488 122667488 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 122667488 122667488 G - DEL SEMA5B ENST00000451055 human ensembl 74_37 -1 known frame_shift_del c.355 p.L119fs 0.996 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 69 0 0 45 9 16.6667 KALRN 0 genome.wustl.edu 37 3 124352739 124352740 + Frame_Shift_Del DEL CA CA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 124352739 124352740 CA - DEL KALRN ENST00000360013 human ensembl 74_37 +1 known frame_shift_del c.5504_5505 p.P1838fs 1.000:0.993 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 60 0 0 29 13 30.9524 C3orf27 0 genome.wustl.edu 37 3 128292318 128292319 + Frame_Shift_Ins INS - - TC TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 128292318 128292319 - TC INS C3orf27 ENST00000356020 human ensembl 74_37 -1 known frame_shift_ins c.255_254 p.D85fs 0.000:0.075 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 103 1 0.961538 63 15 19.2308 ATP2C1 0 genome.wustl.edu 37 3 130649322 130649322 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 130649322 130649322 A - DEL ATP2C1 ENST00000393221 human ensembl 74_37 +1 known frame_shift_del c.171 p.A60fs 1.000 smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Ca-transp_PMR1 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_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 49 0 0 38 8 17.3913 TOPBP1 0 genome.wustl.edu 37 3 133379900 133379900 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 133379900 133379900 A - DEL TOPBP1 ENST00000260810 human ensembl 74_37 -1 known frame_shift_del c.72 p.F24fs 0.998 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 8 0 0 5 3 37.5 PBX2P1 0 genome.wustl.edu 37 3 142895211 142895211 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 142895211 142895211 G - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.341 - - - no_errors PBX2P1 HGNC ENSG00000244171 23 0 0 12 3 20 PLOD2 0 genome.wustl.edu 37 3 145795694 145795694 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 145795694 145795694 T - DEL PLOD2 ENST00000282903 human ensembl 74_37 -1 known frame_shift_del c.1518 p.D507fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 187 0 0 129 32 19.8758 P2RY12 0 genome.wustl.edu 37 3 151056447 151056447 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 151056447 151056447 G - DEL P2RY12 ENST00000302632 human ensembl 74_37 -1 known frame_shift_del c.187 p.K64fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 35 0 0 30 6 16.6667 ANKRD28 0 genome.wustl.edu 37 3 15717504 15717504 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 15717504 15717504 A - DEL ANKRD28 ENST00000498713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD28 HGNC ENSG00000206560 38 0 0 22 12 35.2941 OXNAD1 0 genome.wustl.edu 37 3 16343348 16343348 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 16343348 16343348 A - DEL OXNAD1 ENST00000544043 human ensembl 74_37 +1 known frame_shift_del c.702 p.N236fs 0.128 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 76 0 0 34 17 33.3333 SI 0 genome.wustl.edu 37 3 164781250 164781250 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 164781250 164781250 A - DEL SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_del c.887 p.L296fs 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 63 0 0 66 5 7.04225 TNFSF10 0 genome.wustl.edu 37 3 172224302 172224303 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 172224302 172224303 - A INS TNFSF10 ENST00000241261 human ensembl 74_37 -1 known frame_shift_ins c.826_825 p.G275fs 1.000:0.424 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF10 HGNC ENSG00000121858 59 0 0 37 22 37.2881 TMEM41A 0 genome.wustl.edu 37 3 185212518 185212518 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 185212518 185212518 A - DEL TMEM41A ENST00000421852 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 169 0 0 115 43 27.2152 SENP2 0 genome.wustl.edu 37 3 185304261 185304262 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 185304261 185304262 - C INS SENP2 ENST00000296257 human ensembl 74_37 +1 known frame_shift_ins c.60_61 p.A22fs 1.000:1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 189 0 0 174 30 14.7059 TRA2B 0 genome.wustl.edu 37 3 185641779 185641780 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 185641779 185641780 AA - DEL TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TRA2B HGNC ENSG00000136527 32 0 0 30 8 21.0526 ETV5 0 genome.wustl.edu 37 3 185823714 185823714 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 185823714 185823714 G - DEL ETV5 ENST00000537818 human ensembl 74_37 -1 known frame_shift_del c.70 p.Q24fs 0.890 NULL pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 10 0 0 5 3 37.5 SDHAP1 0 genome.wustl.edu 37 3 195709193 195709193 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 195709193 195709193 A - DEL SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.759 - - - no_errors SDHAP1 HGNC ENSG00000185485 39 0 0 31 4 11.4286 RNF168 0 genome.wustl.edu 37 3 196214348 196214351 + Frame_Shift_Del DEL CTGT CTGT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 196214348 196214351 CTGT - DEL RNF168 ENST00000318037 human ensembl 74_37 -1 known frame_shift_del c.480_477 p.A161fs 0.000:0.000:0.002:0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 226 0 0 155 38 19.6891 NCBP2 0 genome.wustl.edu 37 3 196664215 196664216 + RNA INS - - AA TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 196664215 196664216 - AA INS NCBP2 ENST00000467803 human ensembl 74_37 -1 putative rna NULL NULL 0.020:0.003 - - - no_errors NCBP2 HGNC ENSG00000114503 17 0 0 3 5 62.5 PIGZ 0 genome.wustl.edu 37 3 196674360 196674360 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 196674360 196674360 G - DEL PIGZ ENST00000412723 human ensembl 74_37 -1 known frame_shift_del c.1408 p.R470fs 0.997 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 70 0 0 57 19 25 KAT2B 0 genome.wustl.edu 37 3 20193926 20193927 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 20193926 20193927 - C INS KAT2B ENST00000263754 human ensembl 74_37 +1 known frame_shift_ins c.2408_2409 p.E806fs 1.000:1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 71 0 0 50 14 21.875 THRB 0 genome.wustl.edu 37 3 24206519 24206519 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 24206519 24206519 T - DEL THRB ENST00000280696 human ensembl 74_37 -1 putative frame_shift_del c.327 p.Y111fs 1.000 prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 31 0 0 23 13 36.1111 DYNC1LI1 0 genome.wustl.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 32571050 32571050 T - DEL DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_del c.1288 p.I430fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 15 0 0 4 2 33.3333 DYNC1LI1 0 genome.wustl.edu 37 3 32611857 32611857 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 32611857 32611857 C - DEL DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_del c.201 p.K68fs 0.996 pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 19 0 0 16 4 20 GLB1 0 genome.wustl.edu 37 3 33055705 33055705 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 33055705 33055705 C - DEL GLB1 ENST00000445488 human ensembl 74_37 -1 known frame_shift_del c.1721 p.G574fs 0.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 80 0 0 59 23 28.0488 SCN10A 0 genome.wustl.edu 37 3 38768277 38768277 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 38768277 38768277 C - DEL SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_del c.2907 p.S970fs 0.030 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 74 0 0 85 6 6.59341 SCN11A 0 genome.wustl.edu 37 3 38938481 38938482 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 38938481 38938482 - C INS SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_ins c.2258_2257 p.D753fs 1.000:0.979 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 74 0 0 54 16 22.8571 MOBP 0 genome.wustl.edu 37 3 39544077 39544078 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 39544077 39544078 - C INS MOBP ENST00000354668 human ensembl 74_37 +1 known frame_shift_ins c.258_259 p.A88fs 0.990:0.994 NULL NULL - no_errors MOBP HGNC ENSG00000168314 13 0 0 15 3 16.6667 ZNF445 0 genome.wustl.edu 37 3 44492863 44492863 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 44492863 44492863 C - DEL ZNF445 ENST00000396077 human ensembl 74_37 -1 known frame_shift_del c.541 p.D181fs 0.027 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 222 0 0 151 59 28.0952 EXOSC7 0 genome.wustl.edu 37 3 45077427 45077427 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 45077427 45077427 G - DEL EXOSC7 ENST00000481405 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors EXOSC7 HGNC ENSG00000075914 25 0 0 28 12 30 ALS2CL 0 genome.wustl.edu 37 3 46722809 46722809 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 46722809 46722809 G - DEL ALS2CL ENST00000318962 human ensembl 74_37 -1 known frame_shift_del c.1363 p.Q455fs 0.004 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 176 0 0 179 12 6.28272 ELP6 0 genome.wustl.edu 37 3 47555042 47555042 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 47555042 47555042 G - DEL ELP6 ENST00000296149 human ensembl 74_37 -1 known frame_shift_del c.39 p.D14fs 0.635 pfam_UPF0405 pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 69 0 0 67 15 18.2927 PFKFB4 0 genome.wustl.edu 37 3 48594214 48594214 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 48594214 48594214 G - DEL PFKFB4 ENST00000490115 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PFKFB4 HGNC ENSG00000114268 61 0 0 48 11 18.6441 RBM6 0 genome.wustl.edu 37 3 50004794 50004794 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 50004794 50004794 A - DEL RBM6 ENST00000488807 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors RBM6 HGNC ENSG00000004534 18 0 0 7 12 63.1579 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 42 0 0 54 10 15.625 EDEM1 0 genome.wustl.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 5248941 5248941 T - DEL EDEM1 ENST00000256497 human ensembl 74_37 +1 known frame_shift_del c.1321 p.F442fs 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 126 0 0 107 29 21.3235 PBRM1 0 genome.wustl.edu 37 3 52597340 52597340 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 52597340 52597340 G - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.4045 p.L1349fs 0.571 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 63 0 0 46 8 14.8148 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 18 0 0 20 3 13.0435 CACNA2D3 0 genome.wustl.edu 37 3 54596940 54596940 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 54596940 54596940 T - DEL CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known frame_shift_del c.658 p.F221fs 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 31 0 0 22 10 31.25 CNTN3 0 genome.wustl.edu 37 3 74548856 74548856 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 74548856 74548856 T - DEL CNTN3 ENST00000263665 human ensembl 74_37 -1 known frame_shift_del c.136 p.I46fs 0.956 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 71 0 0 50 11 18.0328 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 28 0 0 38 12 24 ZNF654 0 genome.wustl.edu 37 3 88189730 88189731 + In_Frame_Ins INS - - GTA TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 88189730 88189731 - GTA INS ZNF654 ENST00000309495 human ensembl 74_37 +1 known in_frame_ins c.1270_1271 p.428in_frame_insS 0.579:0.598 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF654 HGNC ENSG00000175105 82 0 0 77 18 18.9474 OR5AC2 0 genome.wustl.edu 37 3 97806904 97806905 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 3 97806904 97806905 - A INS OR5AC2 ENST00000358642 human ensembl 74_37 +1 known frame_shift_ins c.888_889 p.V298fs 0.001:0.025 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC ENSG00000196578 44 0 0 45 11 19.6429 TRAM1L1 0 genome.wustl.edu 37 4 118006156 118006156 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 118006156 118006156 A - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.394 p.S132fs 0.960 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 72 0 0 45 20 30.7692 FAT4 0 genome.wustl.edu 37 4 126238905 126238905 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 126238905 126238905 C - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_del c.1339 p.P448fs 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 70 0 0 36 16 30.7692 PCDH10 0 genome.wustl.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 134071967 134071968 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.Q226fs 0.999:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 89 0 0 95 8 7.76699 USP38 0 genome.wustl.edu 37 4 144135593 144135593 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 144135593 144135593 A - DEL USP38 ENST00000307017 human ensembl 74_37 +1 known frame_shift_del c.2464 p.K823fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 68 0 0 71 16 18.3908 FHDC1 0 genome.wustl.edu 37 4 153896923 153896924 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 153896923 153896924 - C INS FHDC1 ENST00000260008 human ensembl 74_37 +1 known frame_shift_ins c.2480_2481 p.G830fs 0.619:0.617 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 150 0 0 125 32 20.3822 MAP9 0 genome.wustl.edu 37 4 156273869 156273869 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 156273869 156273869 T - DEL MAP9 ENST00000311277 human ensembl 74_37 -1 known frame_shift_del c.1700 p.K567fs 1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 29 0 0 27 2 6.89655 PDGFC 0 genome.wustl.edu 37 4 157688934 157688934 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 157688934 157688934 T - DEL PDGFC ENST00000502773 human ensembl 74_37 -1 known frame_shift_del c.912 p.K304fs 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 57 0 0 36 17 32.0755 TAPT1 0 genome.wustl.edu 37 4 16165091 16165093 + In_Frame_Del DEL ATG ATG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 16165091 16165093 ATG - DEL TAPT1 ENST00000405303 human ensembl 74_37 -1 known in_frame_del c.1544_1542 p.I515in_frame_del 0.247:0.072:0.002 NULL pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 69 0 0 70 9 11.3924 NPY1R 0 genome.wustl.edu 37 4 164246901 164246902 + Frame_Shift_Ins INS - - TA TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 164246901 164246902 - TA INS NPY1R ENST00000296533 human ensembl 74_37 -1 known frame_shift_ins c.709_708 p.R236fs 1.000:0.983 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 18 0 0 18 8 30.7692 TENM3 0 genome.wustl.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 183609359 183609359 G - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.2076 p.T695fs 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 208 1 0.478469 156 38 19.5876 CYP4V2 0 genome.wustl.edu 37 4 187118245 187118245 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 187118245 187118245 T - DEL CYP4V2 ENST00000378802 human ensembl 74_37 +1 known frame_shift_del c.565 p.Y191fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4V2 HGNC ENSG00000145476 85 0 0 76 7 8.43373 SLC34A2 0 genome.wustl.edu 37 4 25671386 25671387 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 25671386 25671387 - T INS SLC34A2 ENST00000382051 human ensembl 74_37 +1 known frame_shift_ins c.753_754 p.H252fs 0.383:0.999 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 268 0 0 172 52 23.2143 GRK4 0 genome.wustl.edu 37 4 3040280 3040282 + RNA DEL AAA AAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 3040280 3040282 AAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005 - - - no_errors GRK4 HGNC ENSG00000125388 33 0 0 22 19 46.3415 HTT 0 genome.wustl.edu 37 4 3133117 3133117 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 3133117 3133117 A - DEL HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_del c.2091 p.N699fs 0.273 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 62 0 0 46 8 14.8148 KLF3 0 genome.wustl.edu 37 4 38691388 38691388 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 38691388 38691388 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.583 p.I197fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 71 0 0 60 18 23.0769 RBM47 0 genome.wustl.edu 37 4 40434726 40434731 + In_Frame_Del DEL GCGGCT GCGGCT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GCGGCT GCGGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 40434726 40434731 GCGGCT - DEL RBM47 ENST00000295971 human ensembl 74_37 -1 known in_frame_del c.1484_1479 p.AA497in_frame_del 0.999:0.997:0.079:0.998:0.996:0.007 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 84 0 0 86 7 7.52688 GUF1 0 genome.wustl.edu 37 4 44680574 44680574 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 44680574 44680574 A - DEL GUF1 ENST00000506793 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUF1 HGNC ENSG00000151806 11 0 0 10 6 37.5 ATP10D 0 genome.wustl.edu 37 4 47563007 47563007 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 47563007 47563007 T - DEL ATP10D ENST00000273859 human ensembl 74_37 +1 known frame_shift_del c.2583 p.L863fs 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 90 0 0 69 25 26.5957 CLOCK 0 genome.wustl.edu 37 4 56336954 56336955 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 56336954 56336955 AA - DEL CLOCK ENST00000309964 human ensembl 74_37 -1 known frame_shift_del c.368_367 p.L123fs 1.000:1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 63 0 0 59 18 23.3766 EVC 0 genome.wustl.edu 37 4 5735152 5735152 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 5735152 5735152 A - DEL EVC ENST00000264956 human ensembl 74_37 +1 known frame_shift_del c.692 p.K232fs 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 265 0 0 211 22 9.44206 CENPC 0 genome.wustl.edu 37 4 68384936 68384936 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 68384936 68384936 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.616 p.R206fs 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 41 0 0 30 14 31.8182 TMPRSS11E 0 genome.wustl.edu 37 4 69343337 69343337 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 69343337 69343337 A - DEL TMPRSS11E ENST00000305363 human ensembl 74_37 +1 known frame_shift_del c.958 p.N321fs 0.004 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11E HGNC ENSG00000087128 243 0 0 198 60 23.2558 USO1 0 genome.wustl.edu 37 4 76722291 76722291 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 76722291 76722291 A - DEL USO1 ENST00000538159 human ensembl 74_37 +1 known frame_shift_del c.1951 p.T653fs 1.000 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 19 0 0 15 2 11.7647 HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 16 0 0 9 5 35.7143 ENSG00000227304 0 genome.wustl.edu 37 4 83416686 83416686 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 83416686 83416686 T - DEL ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 0.914 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 17 0 0 3 3 50 ENSG00000227304 0 genome.wustl.edu 37 4 83417201 83417201 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 83417201 83417201 A - DEL ENSG00000227304 ENST00000488045 human ensembl 74_37 -1 known rna NULL NULL 0.546 - - - no_errors RP11-791G16.2 Clone_based_vega_gene ENSG00000227304 67 0 0 39 19 32.7586 CDS1 0 genome.wustl.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 85556475 85556475 T - DEL CDS1 ENST00000295887 human ensembl 74_37 +1 known frame_shift_del c.781 p.F263fs 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 94 0 0 29 17 36.9565 ARHGAP24 0 genome.wustl.edu 37 4 86916162 86916162 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 86916162 86916162 C - DEL ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known frame_shift_del c.1355 p.N454fs 0.921 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 72 0 0 51 12 19.0476 SLC10A6 0 genome.wustl.edu 37 4 87769943 87769943 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 87769943 87769943 C - DEL SLC10A6 ENST00000273905 human ensembl 74_37 -1 known frame_shift_del c.326 p.G109fs 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 123 0 0 88 10 10.2041 MMRN1 0 genome.wustl.edu 37 4 90857472 90857472 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 90857472 90857472 A - DEL MMRN1 ENST00000264790 human ensembl 74_37 +1 known frame_shift_del c.2641 p.G883fs 0.987 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 21 0 0 4 7 63.6364 TMEM175 0 genome.wustl.edu 37 4 944297 944298 + Frame_Shift_Del DEL CA CA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 944297 944298 CA - DEL TMEM175 ENST00000264771 human ensembl 74_37 +1 known frame_shift_del c.281_282 p.T96fs 0.955:0.253 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 125 0 0 64 19 22.8916 DRD5 0 genome.wustl.edu 37 4 9785033 9785033 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 4 9785033 9785033 G - DEL DRD5 ENST00000304374 human ensembl 74_37 +1 known frame_shift_del c.1380 p.E462fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 79 0 0 60 20 25 APC 0 genome.wustl.edu 37 5 112043281 112043282 + RNA INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 112043281 112043282 - G INS APC ENST00000505350 human ensembl 74_37 +1 putative rna NULL NULL 0.036:0.028 - - - no_errors APC HGNC ENSG00000134982 13 0 0 6 6 50 SLC22A4 0 genome.wustl.edu 37 5 131679466 131679466 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 131679466 131679466 A - DEL SLC22A4 ENST00000200652 human ensembl 74_37 +1 known frame_shift_del c.1594 p.T534fs 0.233 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 43 0 0 38 11 22.449 FSTL4 0 genome.wustl.edu 37 5 132537666 132537668 + In_Frame_Del DEL ATC ATC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 132537666 132537668 ATC - DEL FSTL4 ENST00000265342 human ensembl 74_37 -1 known in_frame_del c.1785_1783 p.D595in_frame_del 0.522:0.991:0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 218 0 0 167 77 31.5574 H2AFY 0 genome.wustl.edu 37 5 134670603 134670603 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 134670603 134670603 T - DEL H2AFY ENST00000360597 human ensembl 74_37 -1 known rna NULL NULL 0.730 - - - no_errors H2AFY HGNC ENSG00000113648 58 0 0 27 47 63.5135 CXXC5 0 genome.wustl.edu 37 5 139060271 139060271 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 139060271 139060271 C - DEL CXXC5 ENST00000302517 human ensembl 74_37 +1 known frame_shift_del c.163 p.E57fs 0.890 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 126 0 0 135 8 5.59441 PCDHB4 0 genome.wustl.edu 37 5 140502964 140502966 + In_Frame_Del DEL AAC AAC - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 140502964 140502966 AAC - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known in_frame_del c.1384_1386 p.N463in_frame_del 1.000:1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 484 0 0 478 32 6.27451 FCHSD1 0 genome.wustl.edu 37 5 141026156 141026156 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 141026156 141026156 C - DEL FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.535 - - - no_errors FCHSD1 HGNC ENSG00000197948 28 0 0 20 3 13.0435 TRIO 0 genome.wustl.edu 37 5 14488155 14488156 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 14488155 14488156 - C INS TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_ins c.7418_7419 p.S2476fs 0.023:0.021 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 20 0 0 13 5 27.7778 SPINK5 0 genome.wustl.edu 37 5 147473959 147473960 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 147473959 147473960 - T INS SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_ins c.709_710 p.C239fs 0.986:0.959 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 201 0 0 214 32 13.0081 TCOF1 0 genome.wustl.edu 37 5 149777957 149777957 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 149777957 149777957 A - DEL TCOF1 ENST00000451292 human ensembl 74_37 +1 known frame_shift_del c.4494 p.K1500fs 0.722 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 124 0 0 133 8 5.67376 FNDC9 0 genome.wustl.edu 37 5 156769909 156769910 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 156769909 156769910 - C INS FNDC9 ENST00000312349 human ensembl 74_37 -1 known frame_shift_ins c.636_635 p.G213fs 0.000:0.000 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 73 0 0 106 13 10.9244 SLC34A1 0 genome.wustl.edu 37 5 176825225 176825225 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 176825225 176825225 C - DEL SLC34A1 ENST00000324417 human ensembl 74_37 +1 known frame_shift_del c.1858 p.P621fs 0.995 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 42 0 0 43 9 17.3077 ADAMTS2 0 genome.wustl.edu 37 5 178579173 178579173 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 178579173 178579173 G - DEL ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known frame_shift_del c.1599 p.L534fs 0.009 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 77 0 0 63 12 16 FLT4 0 genome.wustl.edu 37 5 180058747 180058748 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 180058747 180058748 - G INS FLT4 ENST00000261937 human ensembl 74_37 -1 known frame_shift_ins c.90_89 p.T31fs 0.361:0.998 pfscan_Ig-like_dom,prints_VEGFR3_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 73 0 0 68 19 21.8391 OR2Y1 0 genome.wustl.edu 37 5 180166307 180166308 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 180166307 180166308 - A INS OR2Y1 ENST00000307832 human ensembl 74_37 -1 known frame_shift_ins c.752_751 p.Y251fs 0.618:0.612 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 191 0 0 149 90 37.6569 CDH10 0 genome.wustl.edu 37 5 24491905 24491906 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 24491905 24491906 - T INS CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_ins c.1656_1655 p.N552fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 22 0 0 22 8 26.6667 DROSHA 0 genome.wustl.edu 37 5 31526792 31526792 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 31526792 31526792 G - DEL DROSHA ENST00000344624 human ensembl 74_37 -1 known frame_shift_del c.248 p.P83fs 0.998 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 31 0 0 39 12 23.5294 RXFP3 0 genome.wustl.edu 37 5 33938214 33938214 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 33938214 33938214 G - DEL RXFP3 ENST00000330120 human ensembl 74_37 +1 known frame_shift_del c.1369 p.R459fs 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 44 0 0 46 11 19.2982 AGXT2 0 genome.wustl.edu 37 5 34998889 34998890 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 34998889 34998890 - T INS AGXT2 ENST00000231420 human ensembl 74_37 -1 known frame_shift_ins c.1480_1479 p.V493fs 0.391:0.343 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 58 0 0 53 5 8.62069 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 21 0 0 9 4 30.7692 IL7R 0 genome.wustl.edu 37 5 35876542 35876544 + In_Frame_Del DEL AAG AAG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 35876542 35876544 AAG - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known in_frame_del c.1334_1336 p.E447in_frame_del 0.980:0.993:1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 56 0 0 29 6 17.1429 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 52 0 0 53 13 19.697 C5orf42 0 genome.wustl.edu 37 5 37108532 37108533 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 37108532 37108533 - T INS C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_ins c.9280_9279 p.H3093fs 0.001:0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 84 0 0 53 17 24.2857 C5orf42 0 genome.wustl.edu 37 5 37169374 37169374 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 37169374 37169374 A - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.6752 p.F2251fs 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 136 0 0 100 29 22.4806 RICTOR 0 genome.wustl.edu 37 5 38945715 38945715 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 38945715 38945715 A - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.4583 p.L1528fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 66 0 0 44 14 24.1379 IL6ST 0 genome.wustl.edu 37 5 55247869 55247869 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 55247869 55247869 T - DEL IL6ST ENST00000336909 human ensembl 74_37 -1 known frame_shift_del c.1587 p.V530fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 28 0 0 26 8 23.5294 PLK2 0 genome.wustl.edu 37 5 57753011 57753012 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 57753011 57753012 - A INS PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_ins c.1005_1004 p.L335fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 57 0 0 39 6 13.3333 RAB3C 0 genome.wustl.edu 37 5 58147205 58147205 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 58147205 58147205 G - DEL RAB3C ENST00000381158 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RAB3C HGNC ENSG00000152932 78 0 0 31 7 18.4211 DEPDC1B 0 genome.wustl.edu 37 5 59982869 59982869 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 59982869 59982869 T - DEL DEPDC1B ENST00000265036 human ensembl 74_37 -1 known frame_shift_del c.234 p.K78fs 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 196 0 0 144 10 6.49351 ERCC8 0 genome.wustl.edu 37 5 60186878 60186878 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 60186878 60186878 T - DEL ERCC8 ENST00000265038 human ensembl 74_37 -1 known frame_shift_del c.879 p.G294fs 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 30 0 0 27 12 30.7692 ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 23 0 0 7 6 46.1538 TBCA 0 genome.wustl.edu 37 5 76989051 76989051 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 76989051 76989051 A - DEL TBCA ENST00000306388 human ensembl 74_37 -1 putative frame_shift_del c.286 p.S96fs 0.176 NULL pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 11 0 0 7 2 22.2222 AP3B1 0 genome.wustl.edu 37 5 77424993 77424993 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 77424993 77424993 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.1789 p.I597fs 1.000 superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 40 0 0 20 9 31.0345 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 128 0 0 118 20 14.4928 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319970 + RNA DEL AAA AAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 109319968 109319970 AAA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 44 0 0 54 20 27.027 RPF2 0 genome.wustl.edu 37 6 111346774 111346774 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 111346774 111346774 A - DEL RPF2 ENST00000441448 human ensembl 74_37 +1 known frame_shift_del c.910 p.N306fs 0.900 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 32 0 0 33 6 15.3846 REV3L 0 genome.wustl.edu 37 6 111701188 111701188 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 111701188 111701188 T - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.1451 p.K484fs 0.999 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 133 0 0 86 7 7.52688 TRAF3IP2 0 genome.wustl.edu 37 6 111880506 111880506 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 111880506 111880506 A - DEL TRAF3IP2 ENST00000368730 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TRAF3IP2 HGNC ENSG00000056972 58 0 0 37 16 30.1887 LAMA4 0 genome.wustl.edu 37 6 112575076 112575077 + Frame_Shift_Del DEL GA GA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 112575076 112575077 GA - DEL LAMA4 ENST00000368638 human ensembl 74_37 -1 known frame_shift_del c.277_276 p.P93fs 0.000:0.000 NULL NULL - no_errors LAMA4 HGNC ENSG00000112769 34 0 0 19 12 38.7097 NT5DC1 0 genome.wustl.edu 37 6 116560165 116560165 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 116560165 116560165 T - DEL NT5DC1 ENST00000319550 human ensembl 74_37 +1 known frame_shift_del c.1131 p.F379fs 0.996 superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 65 0 0 54 19 26.0274 ADTRP 0 genome.wustl.edu 37 6 11714640 11714643 + RNA DEL AAAA AAAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 11714640 11714643 AAAA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 24 0 0 14 12 46.1538 TBC1D32 0 genome.wustl.edu 37 6 121412156 121412157 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 121412156 121412157 - A INS TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative frame_shift_ins c.3620_3619 p.W1207fs 1.000:1.000 superfamily_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 91 0 0 73 4 5.19481 STL 0 genome.wustl.edu 37 6 125231565 125231565 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 125231565 125231565 A - DEL STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 15 0 0 9 5 35.7143 LAMA2 0 genome.wustl.edu 37 6 129826416 129826417 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 129826416 129826417 - A INS LAMA2 ENST00000421865 human ensembl 74_37 +1 known frame_shift_ins c.8619_8620 p.A2875fs 0.994:1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 59 0 0 41 14 25.4545 JARID2 0 genome.wustl.edu 37 6 15487734 15487734 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 15487734 15487734 C - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.867 p.P291fs 0.998 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 75 0 0 51 5 8.92857 TULP4 0 genome.wustl.edu 37 6 158923753 158923753 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 158923753 158923753 G - DEL TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_del c.3058 p.V1022fs 0.001 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 18 0 0 20 6 23.0769 LPA 0 genome.wustl.edu 37 6 160963770 160963770 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 160963770 160963770 C - DEL LPA ENST00000316300 human ensembl 74_37 -1 known frame_shift_del c.5469 p.C1824fs 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 113 0 0 82 14 14.5833 FGFR1OP 0 genome.wustl.edu 37 6 167413537 167413537 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 167413537 167413537 T - DEL FGFR1OP ENST00000476078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FGFR1OP HGNC ENSG00000213066 62 0 0 51 8 13.5593 RBM24 0 genome.wustl.edu 37 6 17292449 17292451 + RNA DEL AAA AAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 17292449 17292451 AAA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719:0.391 - - - no_errors RBM24 HGNC ENSG00000112183 22 0 0 18 8 30.7692 KIF13A 0 genome.wustl.edu 37 6 17788023 17788023 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 17788023 17788023 T - DEL KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_del c.3345 p.V1116fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 95 0 0 49 10 16.9492 ABT1 0 genome.wustl.edu 37 6 26598159 26598161 + In_Frame_Del DEL AAG AAG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 26598159 26598161 AAG - DEL ABT1 ENST00000274849 human ensembl 74_37 +1 known in_frame_del c.259_261 p.K89in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 62 0 0 50 16 24.2424 HLA-A 0 genome.wustl.edu 37 6 29910372 29910372 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 29910372 29910372 G - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.42 p.A16fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 103 0 0 75 24 24.2424 LSM2 0 genome.wustl.edu 37 6 31765430 31765430 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 31765430 31765430 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LSM2 HGNC ENSG00000204392 55 0 0 46 14 23.3333 NOTCH4 0 genome.wustl.edu 37 6 32188294 32188295 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 32188294 32188295 - C INS NOTCH4 ENST00000375023 human ensembl 74_37 -1 known frame_shift_ins c.1047_1046 p.T350fs 0.019:0.825 pirsf_Notch,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 214 0 0 171 11 6.04396 COL11A2 0 genome.wustl.edu 37 6 33136750 33136751 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 33136750 33136751 - G INS COL11A2 ENST00000341947 human ensembl 74_37 -1 known frame_shift_ins c.3834_3833 p.G1279fs 1.000:1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 118 0 0 88 22 20 PHF1 0 genome.wustl.edu 37 6 33383637 33383637 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 33383637 33383637 C - DEL PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_del c.1466 p.H491fs 0.791 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 218 0 0 112 47 29.5597 BRPF3 0 genome.wustl.edu 37 6 36181729 36181729 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 36181729 36181729 C - DEL BRPF3 ENST00000357641 human ensembl 74_37 +1 known frame_shift_del c.2555 p.P854fs 0.990 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 115 0 0 77 16 17.2043 DNAH8 0 genome.wustl.edu 37 6 38697694 38697695 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 38697694 38697695 - T INS DNAH8 ENST00000449981 human ensembl 74_37 +1 known frame_shift_ins c.542_543 p.A184fs 0.000:0.000 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 24 0 0 7 7 50 DNAH8 0 genome.wustl.edu 37 6 38816440 38816440 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 38816440 38816440 A - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.4411 p.N1473fs 1.000 pfam_Dynein_heavy_dom-2 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 DNAH8 HGNC ENSG00000124721 37 0 0 23 11 32.3529 AARS2 0 genome.wustl.edu 37 6 44268923 44268923 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 44268923 44268923 C - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.2763 p.K922fs 0.724 tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 105 0 0 77 26 25.2427 HCRTR2 0 genome.wustl.edu 37 6 55039411 55039411 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 55039411 55039411 C - DEL HCRTR2 ENST00000370862 human ensembl 74_37 +1 known frame_shift_del c.26 p.P11fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 171 0 0 103 31 23.1343 DST 0 genome.wustl.edu 37 6 56481507 56481507 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 56481507 56481507 C - DEL DST ENST00000370765 human ensembl 74_37 -1 known frame_shift_del c.6758 p.G2253fs 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 142 0 0 127 10 7.29927 PHF3 0 genome.wustl.edu 37 6 64394096 64394097 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 64394096 64394097 - A INS PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_ins c.473_474 p.A161fs 1.000:1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 249 0 0 190 50 20.8333 EYS 0 genome.wustl.edu 37 6 66204940 66204941 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 66204940 66204941 - T INS EYS ENST00000370616 human ensembl 74_37 -1 known frame_shift_ins c.364_363 p.D121fs 0.976:0.816 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 58 0 0 37 3 7.5 FAM135A 0 genome.wustl.edu 37 6 71235776 71235776 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 71235776 71235776 A - DEL FAM135A ENST00000418814 human ensembl 74_37 +1 known frame_shift_del c.2989 p.N999fs 0.027 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 22 0 0 26 7 21.2121 SLC17A5 0 genome.wustl.edu 37 6 74351534 74351534 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 74351534 74351534 C - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.405 p.M137fs 0.947 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 167 0 0 107 41 27.7027 COL12A1 0 genome.wustl.edu 37 6 75851781 75851781 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 75851781 75851781 C - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.4924 p.E1642fs 0.276 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 92 0 0 73 12 14.1176 MYO6 0 genome.wustl.edu 37 6 76608118 76608118 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 76608118 76608118 T - DEL MYO6 ENST00000369981 human ensembl 74_37 +1 known frame_shift_del c.3196 p.L1067fs 0.217 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 46 0 0 34 10 22.7273 IMPG1 0 genome.wustl.edu 37 6 76715171 76715173 + In_Frame_Del DEL AGG AGG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 76715171 76715173 AGG - DEL IMPG1 ENST00000369950 human ensembl 74_37 -1 known in_frame_del c.968_966 p.L323in_frame_del 0.001:0.000:0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 67 0 0 67 6 8.21918 LCA5 0 genome.wustl.edu 37 6 80197085 80197085 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 80197085 80197085 A - DEL LCA5 ENST00000369846 human ensembl 74_37 -1 known frame_shift_del c.1730 p.L577fs 0.367 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 61 0 0 40 11 21.5686 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 39 0 0 22 18 45 ZNF292 0 genome.wustl.edu 37 6 87969483 87969484 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 87969483 87969484 - A INS ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_ins c.6136_6137 p.S2049fs 0.999:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 24 0 0 15 8 34.7826 ANKRD6 0 genome.wustl.edu 37 6 90333705 90333705 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 90333705 90333705 C - DEL ANKRD6 ENST00000339746 human ensembl 74_37 +1 known frame_shift_del c.1147 p.P384fs 0.966 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 51 0 0 43 7 14 MDN1 0 genome.wustl.edu 37 6 90415853 90415853 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 6 90415853 90415853 A - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.8073 p.F2691fs 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 63 0 0 43 7 14 SLC12A9 0 genome.wustl.edu 37 7 100424577 100424578 + RNA INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100424577 100424578 - C INS SLC12A9 ENST00000461016 human ensembl 74_37 +1 putative rna NULL NULL 0.006:0.002 - - - no_errors SLC12A9 HGNC ENSG00000146828 12 0 0 7 3 30 SLC12A9 0 genome.wustl.edu 37 7 100452322 100452323 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 100452322 100452323 CT - DEL SLC12A9 ENST00000354161 human ensembl 74_37 +1 known frame_shift_del c.262_263 p.S89fs 1.000:1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 96 0 0 150 8 5.06329 CUX1 0 genome.wustl.edu 37 7 101845303 101845304 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 101845303 101845304 - C INS CUX1 ENST00000360264 human ensembl 74_37 +1 known frame_shift_ins c.2759_2760 p.L922fs 1.000:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 135 0 0 116 29 20 DOCK4 0 genome.wustl.edu 37 7 111580273 111580273 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 111580273 111580273 T - DEL DOCK4 ENST00000428084 human ensembl 74_37 -1 known frame_shift_del c.869 p.K290fs 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 168 0 0 177 65 26.8595 IFRD1 0 genome.wustl.edu 37 7 112112339 112112339 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 112112339 112112339 A - DEL IFRD1 ENST00000005558 human ensembl 74_37 +1 known frame_shift_del c.1107 p.K371fs 1.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 105 0 0 112 20 15.1515 THSD7A 0 genome.wustl.edu 37 7 11415500 11415500 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 11415500 11415500 T - DEL THSD7A ENST00000423059 human ensembl 74_37 -1 known frame_shift_del c.4895 p.K1632fs 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 81 0 0 94 13 12.1495 CPED1 0 genome.wustl.edu 37 7 120764394 120764394 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 120764394 120764394 T - DEL CPED1 ENST00000310396 human ensembl 74_37 +1 known frame_shift_del c.928 p.F311fs 0.987 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 91 0 0 104 19 15.4472 NUP205 0 genome.wustl.edu 37 7 135258404 135258404 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 135258404 135258404 A - DEL NUP205 ENST00000285968 human ensembl 74_37 +1 known frame_shift_del c.174 p.N60fs 0.964 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 66 0 0 62 7 10.1449 CHRM2 0 genome.wustl.edu 37 7 136700150 136700150 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 136700150 136700150 T - DEL CHRM2 ENST00000320658 human ensembl 74_37 +1 known frame_shift_del c.538 p.S182fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 125 0 0 123 25 16.8919 KIAA1549 0 genome.wustl.edu 37 7 138603524 138603524 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 138603524 138603524 A - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known frame_shift_del c.848 p.L283fs 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 39 0 0 51 9 15 UBN2 0 genome.wustl.edu 37 7 138968105 138968106 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 138968105 138968106 - A INS UBN2 ENST00000473989 human ensembl 74_37 +1 known frame_shift_ins c.2454_2455 p.L820fs 0.823:0.998 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 62 0 0 68 16 19.0476 LUC7L2 0 genome.wustl.edu 37 7 139083425 139083425 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 139083425 139083425 T - DEL LUC7L2 ENST00000541515 human ensembl 74_37 +1 known frame_shift_del c.435 p.F147fs 0.996 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L2 HGNC ENSG00000269955 38 0 0 45 7 13.4615 EPHB6 0 genome.wustl.edu 37 7 142561448 142561448 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 142561448 142561448 G - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.160 p.W56fs 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 79 0 0 94 16 14.5455 ASB10 0 genome.wustl.edu 37 7 150884267 150884268 + Frame_Shift_Del DEL AG AG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150884267 150884268 AG - DEL ASB10 ENST00000422024 human ensembl 74_37 -1 known frame_shift_del c.86_85 p.L29fs 0.003:0.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 11 0 0 6 4 40 CHPF2 0 genome.wustl.edu 37 7 150935383 150935383 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 150935383 150935383 C - DEL CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_del c.1935 p.S648fs 0.983 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 29 0 0 48 7 12.7273 WDR86 0 genome.wustl.edu 37 7 151082356 151082356 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 151082356 151082356 C - DEL WDR86 ENST00000469830 human ensembl 74_37 -1 putative frame_shift_del c.744 p.L249fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR86 HGNC ENSG00000187260 32 0 0 34 6 15 KMT2C 0 genome.wustl.edu 37 7 151859372 151859374 + In_Frame_Del DEL CAG CAG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 151859372 151859374 CAG - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known in_frame_del c.11290_11288 p.A3763in_frame_del 0.014:0.000:0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 61 0 0 68 11 13.9241 KMT2C 0 genome.wustl.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 151874148 151874148 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.8390 p.K2797fs 0.019 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 61 0 0 50 29 36.7089 WDR60 0 genome.wustl.edu 37 7 158695164 158695164 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 158695164 158695164 A - DEL WDR60 ENST00000407559 human ensembl 74_37 +1 known frame_shift_del c.1235 p.K414fs 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 67 0 0 65 17 20.7317 WDR60 0 genome.wustl.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 158704353 158704353 A - DEL WDR60 ENST00000407559 human ensembl 74_37 +1 known frame_shift_del c.1573 p.N527fs 0.958 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 79 0 0 70 26 27.0833 NUPL2 0 genome.wustl.edu 37 7 23224773 23224773 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 23224773 23224773 G - DEL NUPL2 ENST00000258742 human ensembl 74_37 +1 known frame_shift_del c.206 p.G71fs 1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 89 0 0 87 18 17.1429 BRAT1 0 genome.wustl.edu 37 7 2581015 2581015 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 2581015 2581015 C - DEL BRAT1 ENST00000340611 human ensembl 74_37 -1 known frame_shift_del c.1238 p.G413fs 0.009 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 35 0 0 27 11 28.9474 CBX3 0 genome.wustl.edu 37 7 26245989 26245989 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 26245989 26245989 A - DEL CBX3 ENST00000337620 human ensembl 74_37 +1 known frame_shift_del c.26 p.M11fs 1.000 NULL pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 22 0 0 40 7 14.8936 CREB5 0 genome.wustl.edu 37 7 28848864 28848864 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 28848864 28848864 G - DEL CREB5 ENST00000357727 human ensembl 74_37 +1 known frame_shift_del c.1087 p.R365fs 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 112 0 0 147 12 7.54717 CARD11 0 genome.wustl.edu 37 7 2968322 2968323 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 2968322 2968323 - G INS CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_ins c.1664_1663 p.R555fs 0.395:0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 118 0 0 107 30 21.8978 IGFBP1 0 genome.wustl.edu 37 7 45930305 45930305 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 45930305 45930305 A - DEL IGFBP1 ENST00000275525 human ensembl 74_37 +1 known frame_shift_del c.508 p.K171fs 0.000 superfamily_Thyroglobulin_1,prints_IGFBP1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 126 0 0 106 24 18.4615 PKD1L1 0 genome.wustl.edu 37 7 47866996 47866996 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 47866996 47866996 C - DEL PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_del c.6806 p.G2269fs 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 62 0 0 79 12 13.1868 FIGNL1 0 genome.wustl.edu 37 7 50514614 50514614 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 50514614 50514614 T - DEL FIGNL1 ENST00000356889 human ensembl 74_37 -1 known frame_shift_del c.372 p.K124fs 0.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 67 0 0 84 29 25.6637 RBAK 0 genome.wustl.edu 37 7 5103612 5103613 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 5103612 5103613 - A INS RBAK ENST00000353796 human ensembl 74_37 +1 known frame_shift_ins c.525_526 p.M176fs 0.589:0.453 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 49 0 0 57 8 12.3077 CCT6A 0 genome.wustl.edu 37 7 56126070 56126071 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 56126070 56126071 - T INS CCT6A ENST00000275603 human ensembl 74_37 +1 known frame_shift_ins c.741_742 p.Y249fs 0.950:1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 47 0 0 39 7 15.2174 AIMP2 0 genome.wustl.edu 37 7 6057622 6057622 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 6057622 6057622 A - DEL AIMP2 ENST00000223029 human ensembl 74_37 +1 known frame_shift_del c.520 p.K175fs 0.000 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 38 0 0 36 8 18.1818 CCT6P3 0 genome.wustl.edu 37 7 64526690 64526690 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 64526690 64526690 T - DEL CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CCT6P3 HGNC ENSG00000234585 27 0 0 27 8 22.8571 WBSCR22 0 genome.wustl.edu 37 7 73105315 73105316 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 73105315 73105316 - T INS WBSCR22 ENST00000265758 human ensembl 74_37 +1 known frame_shift_ins c.432_433 p.A146fs 1.000:1.000 NULL pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 103 0 0 101 23 18.5484 CLIP2 0 genome.wustl.edu 37 7 73753188 73753188 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 73753188 73753188 C - DEL CLIP2 ENST00000223398 human ensembl 74_37 +1 known frame_shift_del c.532 p.P179fs 0.908 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 74 0 0 78 16 17.0213 POR 0 genome.wustl.edu 37 7 75601744 75601747 + Frame_Shift_Del DEL AGAG AGAG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 75601744 75601747 AGAG - DEL POR ENST00000461988 human ensembl 74_37 +1 known frame_shift_del c.202_205 p.E69fs 0.905:0.992:0.996:1.000 NULL pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 28 0 0 10 6 37.5 HSPB1 0 genome.wustl.edu 37 7 75933304 75933305 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 75933304 75933305 - C INS HSPB1 ENST00000248553 human ensembl 74_37 +1 known frame_shift_ins c.432_433 p.G146fs 0.996:1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB1 HGNC ENSG00000106211 36 0 0 37 12 24.4898 PHTF2 0 genome.wustl.edu 37 7 77531153 77531153 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 77531153 77531153 T - DEL PHTF2 ENST00000248550 human ensembl 74_37 +1 known frame_shift_del c.361 p.F122fs 1.000 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 17 0 0 10 4 28.5714 SEMA3C 0 genome.wustl.edu 37 7 80378301 80378302 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 80378301 80378302 - T INS SEMA3C ENST00000544525 human ensembl 74_37 -1 known frame_shift_ins c.1809_1808 p.N603fs 1.000:1.000 smart_Ig_sub pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 75 0 0 59 16 21.3333 GRM3 0 genome.wustl.edu 37 7 86493698 86493698 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 86493698 86493698 T - DEL GRM3 ENST00000394720 human ensembl 74_37 +1 known frame_shift_del c.1594 p.L533fs 1.000 NULL pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt - no_errors GRM3 HGNC ENSG00000198822 72 0 0 84 14 14.2857 CROT 0 genome.wustl.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 86978480 86978480 A - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.96 p.K34fs 0.795 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 48 0 0 37 6 13.9535 ABCB4 0 genome.wustl.edu 37 7 87074282 87074282 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 87074282 87074282 A - DEL ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_del c.1015 p.S339fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 23 0 0 32 14 30.4348 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 50 0 0 53 9 14.5161 PEX1 0 genome.wustl.edu 37 7 92134189 92134190 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 92134189 92134190 - T INS PEX1 ENST00000248633 human ensembl 74_37 -1 known frame_shift_ins c.1928_1927 p.T643fs 0.000:0.001 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 171 0 0 176 28 13.7255 PEX1 0 genome.wustl.edu 37 7 92146720 92146721 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 92146720 92146721 - T INS PEX1 ENST00000248633 human ensembl 74_37 -1 known frame_shift_ins c.1109_1108 p.I370fs 0.000:0.000 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 90 0 0 89 13 12.7451 SAMD9 0 genome.wustl.edu 37 7 92735067 92735067 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 92735067 92735067 T - DEL SAMD9 ENST00000379958 human ensembl 74_37 -1 known frame_shift_del c.344 p.K115fs 0.174 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 83 0 0 106 20 15.873 HEPACAM2 0 genome.wustl.edu 37 7 92844875 92844875 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 92844875 92844875 T - DEL HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known frame_shift_del c.554 p.N185fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 78 0 0 69 23 25 CASD1 0 genome.wustl.edu 37 7 94185017 94185017 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 94185017 94185017 T - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.2341 p.C783fs 0.986 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 61 0 0 55 13 19.1176 PON2 0 genome.wustl.edu 37 7 95045560 95045560 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 95045560 95045560 A - DEL PON2 ENST00000536183 human ensembl 74_37 -1 known frame_shift_del c.258 p.F86fs 0.867 NULL pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 67 0 0 75 14 15.7303 DYNC1I1 0 genome.wustl.edu 37 7 95442521 95442521 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 95442521 95442521 T - DEL DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known frame_shift_del c.237 p.L81fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 99 0 0 109 16 12.8 TRRAP 0 genome.wustl.edu 37 7 98609709 98609709 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 98609709 98609709 A - DEL TRRAP ENST00000359863 human ensembl 74_37 +1 known frame_shift_del c.11311 p.T3772fs 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 58 0 0 45 18 28.5714 LOC101927550 0 genome.wustl.edu 37 7 98630587 98630588 + RNA INS - - AA TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 98630587 98630588 - AA INS LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 17 0 0 26 4 13.3333 LOC101927550 0 genome.wustl.edu 37 7 98630588 98630588 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 98630588 98630588 A - DEL LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 17 0 0 25 5 16.6667 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99951085 99951085 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 7 99951085 99951085 C - DEL STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 74 0 0 54 16 22.8571 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 40 0 0 47 6 11.3208 AZIN1 0 genome.wustl.edu 37 8 103852031 103852031 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 103852031 103852031 A - DEL AZIN1 ENST00000337198 human ensembl 74_37 -1 known frame_shift_del c.123 p.F41fs 1.000 prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 30 0 0 24 9 27.2727 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 20 0 0 25 20 44.4444 RP1L1 0 genome.wustl.edu 37 8 10470350 10470351 + Frame_Shift_Del DEL CT CT - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 10470350 10470351 CT - DEL RP1L1 ENST00000382483 human ensembl 74_37 -1 known frame_shift_del c.1258_1257 p.R419fs 0.000:0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 101 0 0 94 20 17.5439 LRP12 0 genome.wustl.edu 37 8 105511744 105511744 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 105511744 105511744 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.219 p.Q74fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 41 0 0 33 10 23.2558 EXT1 0 genome.wustl.edu 37 8 119123039 119123039 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 119123039 119123039 G - DEL EXT1 ENST00000378204 human ensembl 74_37 -1 known frame_shift_del c.247 p.R83fs 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 54 0 0 74 8 9.7561 FER1L6 0 genome.wustl.edu 37 8 125061916 125061917 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 125061916 125061917 - C INS FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_ins c.2793_2794 p.R933fs 0.980:1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 71 0 0 74 8 9.7561 MTSS1 0 genome.wustl.edu 37 8 125568558 125568558 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 125568558 125568558 C - DEL MTSS1 ENST00000518547 human ensembl 74_37 -1 known frame_shift_del c.1319 p.G440fs 0.995 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 49 0 0 38 12 24 PHF20L1 0 genome.wustl.edu 37 8 133836264 133836264 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 133836264 133836264 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.1595 p.V535fs 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 56 0 0 54 19 26.0274 AGO2 0 genome.wustl.edu 37 8 141554344 141554345 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 141554344 141554345 - G INS AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_ins c.1807_1806 p.A602fs 0.998:0.203 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 236 0 0 229 49 17.6259 GRINA 0 genome.wustl.edu 37 8 145065718 145065718 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145065718 145065718 C - DEL GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_del c.327 p.N112fs 0.916 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 24 0 0 23 9 28.125 SPATC1 0 genome.wustl.edu 37 8 145095886 145095886 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145095886 145095886 C - DEL SPATC1 ENST00000377470 human ensembl 74_37 +1 known frame_shift_del c.1184 p.P396fs 0.507 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 143 0 0 103 28 21.374 BOP1 0 genome.wustl.edu 37 8 145512979 145512979 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145512979 145512979 G - DEL BOP1 ENST00000307404 human ensembl 74_37 -1 known frame_shift_del c.106 p.L36fs 0.001 NULL pfam_BOP1_N_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BOP1 HGNC ENSG00000170727 22 0 0 38 6 13.6364 TONSL 0 genome.wustl.edu 37 8 145665789 145665789 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 145665789 145665789 G - DEL TONSL ENST00000409379 human ensembl 74_37 -1 known frame_shift_del c.1235 p.P412fs 0.089 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 86 0 0 100 22 18.0328 DLGAP2 0 genome.wustl.edu 37 8 1497007 1497007 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 1497007 1497007 G - DEL DLGAP2 ENST00000421627 human ensembl 74_37 +1 known frame_shift_del c.148 p.R52fs 0.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 20 0 0 18 9 33.3333 MTMR7 0 genome.wustl.edu 37 8 17159785 17159785 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 17159785 17159785 A - DEL MTMR7 ENST00000180173 human ensembl 74_37 -1 known frame_shift_del c.1498 p.W500fs 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 84 0 0 64 14 17.9487 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 20 0 0 11 22 66.6667 NAT2 0 genome.wustl.edu 37 8 18258079 18258079 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 18258079 18258079 T - DEL NAT2 ENST00000286479 human ensembl 74_37 +1 known frame_shift_del c.566 p.I189fs 0.070 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 71 0 0 72 25 25.7732 SLC18A1 0 genome.wustl.edu 37 8 20004788 20004788 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 20004788 20004788 G - DEL SLC18A1 ENST00000276373 human ensembl 74_37 -1 known frame_shift_del c.1445 p.P482fs 0.988 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 53 0 0 48 17 26.1538 SLC18A1 0 genome.wustl.edu 37 8 20007193 20007194 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 20007193 20007194 - A INS SLC18A1 ENST00000276373 human ensembl 74_37 -1 known frame_shift_ins c.1140_1139 p.L380fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 45 0 0 48 6 11.1111 RHOBTB2 0 genome.wustl.edu 37 8 22864672 22864673 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 22864672 22864673 - G INS RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known frame_shift_ins c.914_915 p.P309fs 0.998:1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 106 0 0 95 30 24 RHOBTB2 0 genome.wustl.edu 37 8 22874858 22874860 + In_Frame_Del DEL AGG AGG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 22874858 22874860 AGG - DEL RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known in_frame_del c.2060_2062 p.E688in_frame_del 1.000:1.000:1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 65 0 0 62 13 17.3333 FZD3 0 genome.wustl.edu 37 8 28385159 28385159 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 28385159 28385159 T - DEL FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_del c.882 p.F296fs 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 64 0 0 92 6 6.12245 CSMD1 0 genome.wustl.edu 37 8 3200919 3200920 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 3200919 3200920 - T INS CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_ins c.3531_3530 p.N1177fs 0.001:0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 55 0 0 41 9 18 NRG1 0 genome.wustl.edu 37 8 32453511 32453511 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 32453511 32453511 A - DEL NRG1 ENST00000338921 human ensembl 74_37 +1 known frame_shift_del c.266 p.K91fs 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 86 0 0 81 7 7.95455 GPR124 0 genome.wustl.edu 37 8 37699108 37699108 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 37699108 37699108 C - DEL GPR124 ENST00000412232 human ensembl 74_37 +1 known frame_shift_del c.3252 p.P1086fs 0.976 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 13 0 0 31 6 16.2162 SNTG1 0 genome.wustl.edu 37 8 51705315 51705315 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 51705315 51705315 T - DEL SNTG1 ENST00000518864 human ensembl 74_37 +1 known frame_shift_del c.1480 p.L495fs 0.957 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 107 0 0 139 27 16.2651 ST18 0 genome.wustl.edu 37 8 53062481 53062482 + Frame_Shift_Ins INS - - T TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 53062481 53062482 - T INS ST18 ENST00000276480 human ensembl 74_37 -1 known frame_shift_ins c.1863_1862 p.N621fs 0.998:1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 69 0 0 82 22 21.1538 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 163 1 0.609756 149 33 18.1319 ZFHX4 0 genome.wustl.edu 37 8 77617337 77617337 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 77617337 77617337 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.1014 p.K340fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 90 0 0 113 11 8.87097 ZFHX4 0 genome.wustl.edu 37 8 77617547 77617547 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 77617547 77617547 G - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.1224 p.L411fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 53 0 0 50 8 13.7931 CA2 0 genome.wustl.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 86386635 86386635 T - DEL CA2 ENST00000285379 human ensembl 74_37 +1 known frame_shift_del c.434 p.L147fs 0.362 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 114 0 0 113 10 8.13008 PPP1R3B 0 genome.wustl.edu 37 8 8998980 8998980 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 8998980 8998980 T - DEL PPP1R3B ENST00000310455 human ensembl 74_37 -1 known frame_shift_del c.182 p.K61fs 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 91 0 0 105 21 16.6667 FAM92A1 0 genome.wustl.edu 37 8 94717262 94717262 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 94717262 94717262 A - DEL FAM92A1 ENST00000522324 human ensembl 74_37 +1 putative frame_shift_del c.456 p.K154fs 0.001 NULL pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 31 0 0 30 8 21.0526 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 101 0 0 82 17 17.1717 TSPYL5 0 genome.wustl.edu 37 8 98289664 98289664 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 98289664 98289664 G - DEL TSPYL5 ENST00000322128 human ensembl 74_37 -1 known frame_shift_del c.409 p.R137fs 0.768 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 74 0 0 61 16 20.7792 SNORA72 0 genome.wustl.edu 37 8 99054837 99054838 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 8 99054837 99054838 AA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 35 0 0 33 24 42.1053 ENSG00000254571 0 genome.wustl.edu 37 9 102677512 102677512 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 102677512 102677512 T - DEL ENSG00000254571 ENST00000524512 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-60I3.4 Clone_based_vega_gene ENSG00000254571 92 0 0 93 10 9.70874 RNF20 0 genome.wustl.edu 37 9 104302779 104302779 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 104302779 104302779 A - DEL RNF20 ENST00000389120 human ensembl 74_37 +1 known frame_shift_del c.305 p.N103fs 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 34 0 0 23 8 25.8065 MIR4668 0 genome.wustl.edu 37 9 114694384 114694385 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 114694384 114694385 AA - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 16 0 0 12 8 40 POLE3 0 genome.wustl.edu 37 9 116172488 116172489 + RNA INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 116172488 116172489 - C INS POLE3 ENST00000475080 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.127 - - - no_errors POLE3 HGNC ENSG00000148229 37 0 0 23 5 17.8571 ASTN2 0 genome.wustl.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 119976989 119976991 CAG - DEL ASTN2 ENST00000313400 human ensembl 74_37 -1 known in_frame_del c.663_661 p.L221in_frame_del 0.994:1.000:1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 54 0 0 77 7 8.33333 CNTRL 0 genome.wustl.edu 37 9 123914741 123914741 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 123914741 123914741 T - DEL CNTRL ENST00000373845 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors CNTRL HGNC ENSG00000119397 37 0 0 34 15 30.6122 DAB2IP 0 genome.wustl.edu 37 9 124536637 124536637 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 124536637 124536637 C - DEL DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_del c.3066 p.H1025fs 0.988 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 52 0 0 49 8 14.0351 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827754 + Frame_Shift_Del DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 125827753 125827754 AA - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717_1718 p.K576fs 0.000:0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 39 0 0 21 24 53.3333 RABEPK 0 genome.wustl.edu 37 9 127982926 127982927 + Frame_Shift_Del DEL GA GA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 127982926 127982927 GA - DEL RABEPK ENST00000373538 human ensembl 74_37 +1 known frame_shift_del c.473_474 p.G161fs 1.000:1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 79 0 0 49 12 19.6721 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 23 0 0 21 5 19.2308 NUP214 0 genome.wustl.edu 37 9 134073008 134073008 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 134073008 134073008 C - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_del c.4130 p.P1379fs 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 148 0 0 81 28 25.6881 UCK1 0 genome.wustl.edu 37 9 134401377 134401378 + RNA INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 134401377 134401378 - G INS UCK1 ENST00000484876 human ensembl 74_37 -1 known rna NULL NULL 0.077:0.012 - - - no_errors UCK1 HGNC ENSG00000130717 153 0 0 92 22 19.2982 SETX 0 genome.wustl.edu 37 9 135158548 135158549 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135158548 135158549 AA - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.003 - - - no_errors SETX HGNC ENSG00000107290 14 0 0 7 9 56.25 SETX 0 genome.wustl.edu 37 9 135203742 135203742 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135203742 135203742 A - DEL SETX ENST00000372169 human ensembl 74_37 -1 known frame_shift_del c.3243 p.F1081fs 1.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 72 0 0 71 11 13.4146 TTF1 0 genome.wustl.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 135277388 135277388 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.821 p.K274fs 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 103 0 0 65 20 23.5294 BRD3 0 genome.wustl.edu 37 9 136918528 136918529 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 136918528 136918529 - G INS BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_ins c.72_71 p.E25fs 0.120:1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 63 0 0 58 5 7.93651 PNPLA7 0 genome.wustl.edu 37 9 140355914 140355914 + RNA DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 140355914 140355914 G - DEL PNPLA7 ENST00000469998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 23 0 0 9 5 35.7143 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 47 0 0 32 20 38.4615 RPS6 0 genome.wustl.edu 37 9 19376283 19376283 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 19376283 19376283 A - DEL RPS6 ENST00000498815 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPS6 HGNC ENSG00000137154 52 0 0 54 10 15.625 FAM214B 0 genome.wustl.edu 37 9 35108147 35108148 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 35108147 35108148 - C INS FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_ins c.125_124 p.A42fs 0.144:0.584 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 28 0 0 32 5 13.5135 ALDH1B1 0 genome.wustl.edu 37 9 38396386 38396386 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 38396386 38396386 C - DEL ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known frame_shift_del c.641 p.L216fs 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 112 0 0 94 11 10.4762 ERMP1 0 genome.wustl.edu 37 9 5801227 5801227 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 5801227 5801227 A - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.2016 p.P673fs 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 64 0 0 45 11 19.6429 APBA1 0 genome.wustl.edu 37 9 72131216 72131216 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 72131216 72131216 G - DEL APBA1 ENST00000265381 human ensembl 74_37 -1 known frame_shift_del c.911 p.P304fs 0.170 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 12 0 0 15 6 28.5714 LOC101927552 0 genome.wustl.edu 37 9 86482789 86482789 + RNA DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 86482789 86482789 A - DEL LOC101927552 ENST00000421734 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors RP11-575L7.4 Clone_based_vega_gene ENSG00000231616 24 0 0 18 6 25 ENSG00000230303 0 genome.wustl.edu 37 9 88400990 88400990 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 88400990 88400990 T - DEL ENSG00000230303 ENST00000439544 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-213G2.2 Clone_based_vega_gene ENSG00000230303 33 0 0 26 8 23.5294 DAPK1 0 genome.wustl.edu 37 9 90321801 90321802 + Frame_Shift_Ins INS - - G TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 90321801 90321802 - G INS DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_ins c.3890_3891 p.Y1300fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 96 0 0 74 15 16.8539 ROR2 0 genome.wustl.edu 37 9 94493292 94493292 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 94493292 94493292 C - DEL ROR2 ENST00000375708 human ensembl 74_37 -1 known frame_shift_del c.1083 p.H362fs 0.825 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 72 0 0 75 7 8.53659 WNK2 0 genome.wustl.edu 37 9 96080206 96080207 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 96080206 96080207 - C INS WNK2 ENST00000297954 human ensembl 74_37 +1 known frame_shift_ins c.6791_6792 p.T2267fs 0.000:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 36 0 0 35 4 10.2564 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 23 0 0 18 3 14.2857 FANCC 0 genome.wustl.edu 37 9 97934320 97934320 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c 9 97934320 97934320 T - DEL FANCC ENST00000289081 human ensembl 74_37 -1 known frame_shift_del c.455 p.N152fs 1.000 pfam_Fanconi,pirsf_Fanconi,prints_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 46 0 0 28 9 24.3243 TENM1 0 genome.wustl.edu 37 X 123805534 123805534 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 123805534 123805534 T - DEL TENM1 ENST00000422452 human ensembl 74_37 -1 known frame_shift_del c.1167 p.V390fs 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 47 0 0 32 6 15.7895 RBMX 0 genome.wustl.edu 37 X 135956319 135956320 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 135956319 135956320 - C INS RBMX ENST00000320676 human ensembl 74_37 -1 known frame_shift_ins c.1158_1157 p.G387fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 108 0 0 78 8 9.30233 RBMX 0 genome.wustl.edu 37 X 135956408 135956408 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 135956408 135956408 A - DEL RBMX ENST00000320676 human ensembl 74_37 -1 known frame_shift_del c.1069 p.Y357fs 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 179 0 0 130 10 7.14286 SPANXC 0 genome.wustl.edu 37 X 140335820 140335820 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 140335820 140335820 T - DEL SPANXC ENST00000358993 human ensembl 74_37 -1 known frame_shift_del c.124 p.M42fs 0.004 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 251 0 0 216 19 8.08511 ENSG00000266560 0 genome.wustl.edu 37 X 151283859 151283859 + RNA DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 151283859 151283859 C - DEL ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 86 0 0 35 45 56.25 PNMA5 0 genome.wustl.edu 37 X 152159091 152159092 + Frame_Shift_Ins INS - - C TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 152159091 152159092 - C INS PNMA5 ENST00000361887 human ensembl 74_37 -1 known frame_shift_ins c.1052_1051 p.A351fs 0.000:0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 53 0 0 24 20 45.4545 FLNA 0 genome.wustl.edu 37 X 153589691 153589691 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 153589691 153589691 G - DEL FLNA ENST00000369850 human ensembl 74_37 -1 known frame_shift_del c.3192 p.T1065fs 0.001 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 40 0 0 32 17 34.6939 F8 0 genome.wustl.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 154157686 154157686 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.4379 p.N1460fs 0.012 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 56 0 0 25 26 50.9804 CTPS2 0 genome.wustl.edu 37 X 16609020 16609021 + RNA DEL AA AA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 16609020 16609021 AA - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 11 0 0 11 5 31.25 TXLNG 0 genome.wustl.edu 37 X 16847845 16847845 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 16847845 16847845 G - DEL TXLNG ENST00000380122 human ensembl 74_37 +1 known frame_shift_del c.816 p.E274fs 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 80 0 0 34 32 48.4848 RBBP7 0 genome.wustl.edu 37 X 16876853 16876853 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 16876853 16876853 T - DEL RBBP7 ENST00000380087 human ensembl 74_37 -1 known frame_shift_del c.427 p.T143fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 55 0 0 28 27 49.0909 AKAP17A 0 genome.wustl.edu 37 X 1712781 1712781 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 1712781 1712781 G - DEL AKAP17A ENST00000313871 human ensembl 74_37 +1 known frame_shift_del c.426 p.E144fs 0.965 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 283 0 0 217 55 20.2206 KLHL34 0 genome.wustl.edu 37 X 21675046 21675046 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 21675046 21675046 C - DEL KLHL34 ENST00000379499 human ensembl 74_37 -1 known frame_shift_del c.861 p.R288fs 0.005 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 12 0 0 15 6 28.5714 ZNF645 0 genome.wustl.edu 37 X 22291685 22291685 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 22291685 22291685 G - DEL ZNF645 ENST00000323684 human ensembl 74_37 +1 known frame_shift_del c.577 p.V193fs 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 58 0 0 33 35 51.4706 PRKX 0 genome.wustl.edu 37 X 3592741 3592741 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 3592741 3592741 T - DEL PRKX ENST00000262848 human ensembl 74_37 -1 known frame_shift_del c.233 p.K78fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKX HGNC ENSG00000183943 80 0 0 54 8 12.9032 FAM47C 0 genome.wustl.edu 37 X 37028481 37028481 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 37028481 37028481 C - DEL FAM47C ENST00000358047 human ensembl 74_37 +1 known frame_shift_del c.1998 p.P668fs 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 110 0 0 82 12 12.766 PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 64 0 0 44 23 34.3284 GPR82 0 genome.wustl.edu 37 X 41586414 41586415 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 41586414 41586415 - A INS GPR82 ENST00000302548 human ensembl 74_37 +1 known frame_shift_ins c.135_136 p.T47fs 0.228:0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 34 0 0 29 6 17.1429 GPR82 0 genome.wustl.edu 37 X 41586527 41586530 + Frame_Shift_Del DEL ATCA ATCA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 ATCA ATCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 41586527 41586530 ATCA - DEL GPR82 ENST00000302548 human ensembl 74_37 +1 known frame_shift_del c.248_251 p.Q84fs 0.996:0.952:0.117:0.114 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 43 0 0 10 14 58.3333 ARAF 0 genome.wustl.edu 37 X 47426415 47426415 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 47426415 47426415 C - DEL ARAF ENST00000377045 human ensembl 74_37 +1 known frame_shift_del c.758 p.R255fs 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 37 0 0 18 22 55 TFE3 0 genome.wustl.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 48887952 48887952 C - DEL TFE3 ENST00000315869 human ensembl 74_37 -1 known frame_shift_del c.1445 p.G482fs 0.037 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 79 0 0 41 26 38.806 IQSEC2 0 genome.wustl.edu 37 X 53280145 53280145 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 53280145 53280145 G - DEL IQSEC2 ENST00000396435 human ensembl 74_37 -1 known frame_shift_del c.1613 p.P538fs 0.983 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 56 0 0 30 22 42.3077 FAAH2 0 genome.wustl.edu 37 X 57313352 57313352 + Frame_Shift_Del DEL G G - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 57313352 57313352 G - DEL FAAH2 ENST00000374900 human ensembl 74_37 +1 known frame_shift_del c.94 p.G33fs 0.000 superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 19 0 0 8 7 46.6667 TEX11 0 genome.wustl.edu 37 X 70127618 70127618 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 70127618 70127618 A - DEL TEX11 ENST00000374333 human ensembl 74_37 -1 known frame_shift_del c.22 p.S8fs 0.008 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 18 0 0 29 5 14.7059 NHSL2 0 genome.wustl.edu 37 X 71360412 71360413 + Frame_Shift_Ins INS - - A TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 71360412 71360413 - A INS NHSL2 ENST00000540800 human ensembl 74_37 +1 known frame_shift_ins c.3014_3015 p.P1008fs 0.998:0.966 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 30 0 0 16 15 48.3871 XIST 0 genome.wustl.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 73046080 73046080 T - DEL XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 50 0 0 36 27 42.8571 XIST 0 genome.wustl.edu 37 X 73071941 73071943 + RNA DEL AAA AAA - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 73071941 73071943 AAA - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.531:0.460:0.005 - - - no_errors XIST HGNC ENSG00000229807 13 0 0 8 6 42.8571 FAM46D 0 genome.wustl.edu 37 X 79698606 79698606 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 79698606 79698606 A - DEL FAM46D ENST00000308293 human ensembl 74_37 +1 known frame_shift_del c.568 p.N191fs 0.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 42 0 0 20 14 41.1765 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 9 0 0 3 5 62.5 FAM133A 0 genome.wustl.edu 37 X 92964950 92964950 + Frame_Shift_Del DEL A A - TCGA-CD-A4MG-01A-11D-A25D-08 TCGA-CD-A4MG-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05 f2395de6-3fc0-48c1-97c8-2500e65c889c X 92964950 92964950 A - DEL FAM133A ENST00000322139 human ensembl 74_37 +1 known frame_shift_del c.532 p.R180fs 0.996 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 17 0 0 6 8 57.1429