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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SSPO 0 genome.wustl.edu 37 7 149506541 149506541 + R SNP T T A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 149506541 149506541 T A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 40 0 0.00 58 9 13.43 ENOSF1 0 genome.wustl.edu 37 18 690702 690703 + Frame_Shift_Ins INS - - AGCTGTTTCCCCTGGAGAGTCC TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 18 690702 690703 - AGCTGTTTCCCCTGGAGAGTCC INS ENOSF1 ENST00000581475 human ensembl 74_37 -1 known frame_shift_ins c.467_466 p.L156fs 0.000:0.000 NULL pfam_Mandelate_racemase_N - no_errors ENOSF1 HGNC ENSG00000132199 tier1 TCHHL1 0 genome.wustl.edu 37 1 152059969 152059969 + Missense_Mutation SNP G G C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 152059969 152059969 G C SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.189 p.D63E 0.079 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 26 0 0.00 52 7 11.86 AASS 0 genome.wustl.edu 37 7 121733109 121733109 + Nonsense_Mutation SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 121733109 121733109 C A SNP AASS ENST00000393376 human ensembl 74_37 -1 known nonsense c.1759 p.E587* 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_D(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 tier1 - - 63 0 0.00 69 6 8.00 PDX1 0 genome.wustl.edu 37 13 28498562 28498562 + Silent SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 13 28498562 28498562 C A SNP PDX1 ENST00000381033 human ensembl 74_37 +1 known silent c.576 p.I192 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 tier1 - - 61 0 0.00 50 12 19.35 FMN2 0 genome.wustl.edu 37 1 240492670 240492670 + Missense_Mutation SNP T T A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 240492670 240492670 T A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4339 p.F1447I 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 26 0 0.00 25 6 19.35 CEACAM8 0 genome.wustl.edu 37 19 43093685 43093685 + Silent SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 19 43093685 43093685 G A SNP CEACAM8 ENST00000244336 human ensembl 74_37 -1 known silent c.627 p.D209 0.062 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 CEACAM8 HGNC ENSG00000124469 tier1 - - 84 0 0.00 82 33 28.70 CNTP3 0 genome.wustl.edu 37 9 39099994 39099994 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 9 39099994 39099994 C T SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known missense c.2909 p.R970H 0.314 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom 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 CNTP3 HGNC ENSG00000106714 tier1 - - 58 0 0.00 61 11 15.28 DPY19L4 0 genome.wustl.edu 37 8 95801976 95801976 + Missense_Mutation SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 8 95801976 95801976 G T SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.2010 p.M670I 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 tier1 - - 81 0 0.00 77 10 11.49 ODF3B 0 genome.wustl.edu 37 22 50969671 50969671 + Missense_Mutation SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 22 50969671 50969671 G T SNP ODF3B ENST00000329363 human ensembl 74_37 -1 known missense c.367 p.H123N 0.999 NULL pfam_SHIPPO-rpt - no_errors ODF3B HGNC ENSG00000177989 tier1 - - 32 0 0.00 34 4 10.53 PSME4 0 genome.wustl.edu 37 2 54153144 54153144 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 2 54153144 54153144 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.1610 p.C537Y 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 30 0 0.00 46 12 20.69 FGG 0 genome.wustl.edu 37 4 155526181 155526181 + Nonsense_Mutation SNP A A C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 4 155526181 155526181 A C SNP FGG ENST00000336098 human ensembl 74_37 -1 known nonsense c.1167 p.Y389* 1.000 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_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 tier1 - - 79 0 0.00 56 8 12.50 KIF7 0 genome.wustl.edu 37 15 90176221 90176221 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 90176221 90176221 C G SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.2725 p.E909Q 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 KIF7 HGNC ENSG00000166813 tier1 - - 20 0 0.00 34 6 15.00 NHSL2 0 genome.wustl.edu 37 X 71359470 71359470 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 X 71359470 71359470 C G SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2072 p.S691C 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 33 0 0.00 60 7 10.45 GOLGA6L2 0 genome.wustl.edu 37 15 23685017 23685017 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 23685017 23685017 C G SNP GOLGA6L2 ENST00000345070 human ensembl 74_37 -1 known missense c.820 p.A274P 0.003 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 rs190025566 - 32 0 0.00 38 5 11.63 MYH13 0 genome.wustl.edu 37 17 10216011 10216011 + Silent SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 10216011 10216011 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.4245 p.C1415 0.993 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 27 0 0.00 44 5 10.20 RB1 0 genome.wustl.edu 37 13 48953787 48953787 + Splice_Site SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 13 48953787 48953787 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site c.1389+1 e14+1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 tier1 - - 272 0 0.00 191 89 31.79 PRRC2A 0 genome.wustl.edu 37 6 31605306 31605306 + Silent SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 31605306 31605306 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.6417 p.R2139 0.964 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 97 0 0.00 139 16 10.32 WDR76 0 genome.wustl.edu 37 15 44158334 44158334 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 44158334 44158334 C T SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known missense c.1625 p.T542I 0.993 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 tier1 - - 35 0 0.00 46 4 8.00 V1 0 genome.wustl.edu 37 1 201618518 201618518 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 201618518 201618518 G A SNP V1 ENST00000367296 human ensembl 74_37 +1 known missense c.722 p.G241E 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors V1 HGNC ENSG00000134369 tier1 - - 44 0 0.00 74 7 8.64 CHR7 0 genome.wustl.edu 37 15 32393542 32393542 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 32393542 32393542 C T SNP CHR7 ENST00000454250 human ensembl 74_37 +1 known silent c.319 p.L107 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_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR7 HGNC ENSG00000175344 tier1 - - 36 0 0.00 25 19 43.18 SPATS1 0 genome.wustl.edu 37 6 44336210 44336210 + Silent SNP A A C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 44336210 44336210 A C SNP SPATS1 ENST00000288390 human ensembl 74_37 +1 known silent c.669 p.S223 0.988 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 tier1 - - 51 0 0.00 67 7 9.46 NR1I3 0 genome.wustl.edu 37 1 161202645 161202645 + Missense_Mutation SNP A A G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 161202645 161202645 A G SNP NR1I3 ENST00000367979 human ensembl 74_37 -1 known missense c.500 p.F167S 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 tier1 - - 30 0 0.00 31 16 34.04 RLTPR 0 genome.wustl.edu 37 16 67685131 67685131 + Silent SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 16 67685131 67685131 G A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known silent c.2226 p.E742 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 tier1 - - 50 0 0.00 51 11 17.74 POU2F1 0 genome.wustl.edu 37 1 167381214 167381214 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 167381214 167381214 C T SNP POU2F1 ENST00000367866 human ensembl 74_37 +1 known missense c.1574 p.S525F 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 tier1 - - 25 0 0.00 38 7 15.56 URM1 0 genome.wustl.edu 37 9 131152123 131152123 + R SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 9 131152123 131152123 G T SNP URM1 ENST00000483206 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors URM1 HGNC ENSG00000167118 tier1 - - 36 0 0.00 53 7 11.67 PRRC2A 0 genome.wustl.edu 37 6 31603240 31603240 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 31603240 31603240 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5371 p.E1791K 0.995 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 33 0 0.00 47 6 11.32 TENM2 0 genome.wustl.edu 37 5 167654985 167654985 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 5 167654985 167654985 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.5370 p.S1790 0.218 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 26 0 0.00 27 4 12.90 GRIN2A 0 genome.wustl.edu 37 16 10274089 10274089 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 16 10274089 10274089 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.180 p.A60 0.000 superfamily_Peripla_BP_I 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 tier1 - - 34 0 0.00 46 19 29.23 ENSG00000215979 0 genome.wustl.edu 37 6 26365703 26365722 + R DEL TGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG - TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 TGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 26365703 26365722 TGTGTGTGTGTGTGTGTGTG - DEL ENSG00000215979 ENST00000401160 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.001:0.003:0.035:0.047:0.052:0.060:0.076:0.083:0.101:0.112:0.118:0.122:0.123:0.119:0.112:0.098:0.077:0.044:0.031 - - - no_errors AL021917.1 Clone_based_ensembl_gene ENSG00000215979 tier1 CDKL5 0 genome.wustl.edu 37 X 18616676 18616676 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 X 18616676 18616676 C G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.920 p.P307R 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL5 HGNC ENSG00000008086 tier1 - - 96 0 0.00 132 20 13.16 GPRIN2 0 genome.wustl.edu 37 10 46999608 46999608 + Frame_Shift_Del DEL C C - TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 10 46999608 46999608 C - DEL GPRIN2 ENST00000374314 human ensembl 74_37 +1 known frame_shift_del c.728 p.A243fs 0.001 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 tier1 37 0 0.00 61 7 10.29 RRN3P1 0 genome.wustl.edu 37 16 21821976 21821977 + R INS - - AA TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 16 21821976 21821977 - AA INS RRN3P1 ENST00000551681 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.003 - - - no_errors RRN3P1 HGNC ENSG00000248124 tier1 19 0 0.00 26 7 21.21 COA6 0 genome.wustl.edu 37 1 234519493 234519493 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 234519493 234519493 G A SNP COA6 ENST00000366615 human ensembl 74_37 +1 novel missense c.397 p.D133N 1.000 pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B - no_errors COA6 HGNC ENSG00000168275 tier1 - - 101 0 0.00 102 16 13.45 HBG2 0 genome.wustl.edu 37 11 5275523 5275523 + Missense_Mutation SNP T T C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 11 5275523 5275523 T C SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known missense c.314 p.K105R 0.998 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 tier1 - - 70 0 0.00 45 10 18.18 LRIG2 0 genome.wustl.edu 37 1 113667282 113667283 + R INS - - T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 113667282 113667283 - T INS LRIG2 ENST00000466161 human ensembl 74_37 +1 known rna NULL NULL 0.029:0.014 - - - no_errors LRIG2 HGNC ENSG00000198799 tier1 9 0 0.00 22 4 15.38 ARID3B 0 genome.wustl.edu 37 15 74883555 74883555 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 74883555 74883555 C T SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.945 p.L315 0.958 superfamily_ARID/BRIGHT_D-bd pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID3B HGNC ENSG00000179361 tier1 - - 60 0 0.00 54 7 11.48 ALAD2 0 genome.wustl.edu 37 11 89880650 89880650 + Missense_Mutation SNP A A T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 11 89880650 89880650 A T SNP ALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.347 p.N116I 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors ALAD2 HGNC ENSG00000077616 tier1 - - 63 0 0.00 61 11 15.28 SNTG1 0 genome.wustl.edu 37 8 51621506 51621506 + Missense_Mutation SNP A A G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 8 51621506 51621506 A G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.1252 p.T418A 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 31 0 0.00 43 5 10.42 ACSF2 0 genome.wustl.edu 37 17 48538718 48538718 + Splice_Site SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 48538718 48538718 C T SNP ACSF2 ENST00000502667 human ensembl 74_37 +1 novel splice_site c.438+2 e3+2 0.998 - - - no_errors ACSF2 HGNC ENSG00000167107 tier1 - - 14 0 0.00 23 11 32.35 OR2M7 0 genome.wustl.edu 37 1 248487708 248487708 + Missense_Mutation SNP G G C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 248487708 248487708 G C SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.163 p.L55V 0.336 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 OR2M7 HGNC ENSG00000177186 tier1 - - 85 0 0.00 80 8 9.09 KLHL30 0 genome.wustl.edu 37 2 239054412 239054412 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 2 239054412 239054412 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.1089 p.M363I 1.000 pfam_Kelch_1,smart_Kelch_1,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 KLHL30 HGNC ENSG00000168427 tier1 - - 65 0 0.00 51 6 10.53 MBNL1 0 genome.wustl.edu 37 3 152017897 152017898 + R INS - - T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 3 152017897 152017898 - T INS MBNL1 ENST00000461436 human ensembl 74_37 +1 putative rna NULL NULL 0.829:0.026 - - - no_errors MBNL1 HGNC ENSG00000152601 tier1 47 0 0.00 57 12 17.39 SCML2 0 genome.wustl.edu 37 X 18257826 18257826 + R SNP A A C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 X 18257826 18257826 A C SNP SCML2 ENST00000491988 human ensembl 74_37 -1 known rna NULL NULL 0.118 - - - no_errors SCML2 HGNC ENSG00000102098 tier1 - - 75 0 0.00 109 13 10.66 PDIA4 0 genome.wustl.edu 37 7 148705263 148705263 + Missense_Mutation SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 148705263 148705263 C A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.1119 p.M373I 0.047 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 tier1 - - 62 0 0.00 100 18 15.25 SAMD8 0 genome.wustl.edu 37 10 76936171 76936171 + Silent SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 10 76936171 76936171 G A SNP SAMD8 ENST00000372690 human ensembl 74_37 +1 known silent c.1158 p.L386 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 tier1 - - 51 0 0.00 46 4 8.00 HOOK1 0 genome.wustl.edu 37 1 60302603 60302603 + Missense_Mutation SNP A A C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 60302603 60302603 A C SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.533 p.Q178P 0.802 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 137 0 0.00 159 20 11.17 MYH7 0 genome.wustl.edu 37 14 23895280 23895280 + Missense_Mutation SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 14 23895280 23895280 G T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2055 p.D685E 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,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 37 0 0.00 47 10 17.54 MAGI2 0 genome.wustl.edu 37 7 77764399 77764399 + Silent SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 77764399 77764399 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.2970 p.D990 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 rs151185251 - 19 0 0.00 28 7 20.00 PRRC2A 0 genome.wustl.edu 37 6 31602954 31602954 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 31602954 31602954 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5206 p.E1736K 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 22 0 0.00 30 6 15.79 PDIA4 0 genome.wustl.edu 37 7 148705272 148705272 + Silent SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 148705272 148705272 C A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known silent c.1110 p.R370 0.345 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 tier1 - - 64 0 0.00 97 17 14.91 CCNYL2 0 genome.wustl.edu 37 10 42907248 42907248 + R SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 10 42907248 42907248 C T SNP CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 - - 77 0 0.00 100 9 8.26 URM1 0 genome.wustl.edu 37 9 131151745 131151745 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 9 131151745 131151745 G A SNP URM1 ENST00000452446 human ensembl 74_37 +1 known missense c.394 p.E132K 0.001 NULL pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC ENSG00000167118 tier1 - - 58 0 0.00 65 8 10.96 ACACB 0 genome.wustl.edu 37 12 109680379 109680379 + Missense_Mutation SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 12 109680379 109680379 C A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5160 p.F1720L 1.000 NULL 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 tier1 - - 28 0 0.00 23 4 14.81 ZNF284 0 genome.wustl.edu 37 19 44591144 44591144 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 19 44591144 44591144 C T SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.1513 p.H505Y 0.984 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 ZNF284 HGNC ENSG00000186026 tier1 - - 48 0 0.00 69 7 9.21 ZNF74 0 genome.wustl.edu 37 22 20759979 20759979 + Missense_Mutation SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 22 20759979 20759979 C A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.656 p.A219E 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 tier1 - - 31 0 0.00 31 6 16.22 PRRC2A 0 genome.wustl.edu 37 6 31605238 31605238 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 31605238 31605238 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.6349 p.A2117T 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 61 0 0.00 71 10 12.35 ENSG00000221659 0 genome.wustl.edu 37 3 21179806 21179806 + R SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 3 21179806 21179806 G A SNP ENSG00000221659 ENST00000408732 human ensembl 74_37 -1 novel rna NULL NULL 0.040 - - - no_errors AC104441.1 Clone_based_ensembl_gene ENSG00000221659 tier1 - - 32 0 0.00 43 4 8.51 GCNT2 0 genome.wustl.edu 37 6 10586804 10586804 + Missense_Mutation SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 10586804 10586804 C A SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known missense c.582 p.D194E 0.929 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 tier1 - - 26 0 0.00 37 13 26.00 ADCK5 0 genome.wustl.edu 37 8 145617202 145617202 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 8 145617202 145617202 C G SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known missense c.1076 p.S359W 1.000 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 13 0 0.00 4 5 55.56 KIF7 0 genome.wustl.edu 37 15 90152192 90152192 + R SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 90152192 90152192 C T SNP KIF7 ENST00000558928 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIF7 HGNC ENSG00000166813 tier1 - - 93 0 0.00 104 40 27.78 GPR114 0 genome.wustl.edu 37 16 57601387 57601387 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 16 57601387 57601387 C T SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.705 p.L235 0.990 smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 tier1 - - 25 0 0.00 21 17 44.74 CSF2RB 0 genome.wustl.edu 37 22 37334252 37334252 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 22 37334252 37334252 C G SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2420 p.A807G 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 tier1 - - 58 0 0.00 69 12 14.81 PACSIN3 0 genome.wustl.edu 37 11 47199923 47199923 + Nonsense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 11 47199923 47199923 G A SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known nonsense c.1153 p.R385* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain 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 PACSIN3 HGNC ENSG00000165912 tier1 - - 26 0 0.00 52 5 8.77 CHMP7 0 genome.wustl.edu 37 8 23115547 23115547 + Missense_Mutation SNP T T A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 8 23115547 23115547 T A SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known missense c.793 p.C265S 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 tier1 - - 18 0 0.00 24 13 35.14 DNM1P47 0 genome.wustl.edu 37 15 102294423 102294423 + R SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 102294423 102294423 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 48 0 0.00 20 8 28.57 FGFR2 0 genome.wustl.edu 37 10 123279550 123279550 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 10 123279550 123279550 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.882 p.V294 0.537 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 FGFR2 HGNC ENSG00000066468 tier1 - - 51 0 0.00 38 4 9.52 RN7SKP70 0 genome.wustl.edu 37 5 178046734 178046734 + R SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 5 178046734 178046734 G T SNP RN7SKP70 ENST00000516655 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RN7SKP70 HGNC ENSG00000252464 tier1 - - 31 0 0.00 34 4 10.53 RPS6KL1 0 genome.wustl.edu 37 14 75375803 75375803 + Splice_Site SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 14 75375803 75375803 C T SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known splice_site c.1360+1 e7+1 1.000 - - - no_errors RPS6KL1 HGNC ENSG00000198208 tier1 - - 30 0 0.00 55 5 8.33 GVINP1 0 genome.wustl.edu 37 11 6740896 6740896 + R SNP T T C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 11 6740896 6740896 T C SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 54 0 0.00 32 7 17.95 TCOF1 0 genome.wustl.edu 37 5 149755997 149755997 + Silent SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 5 149755997 149755997 G T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known silent c.2154 p.V718 0.212 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 35 0 0.00 31 4 11.43 RYR2 0 genome.wustl.edu 37 1 237527674 237527674 + Splice_Site SNP T T A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 237527674 237527674 T A SNP RYR2 ENST00000366574 human ensembl 74_37 +1 known splice_site c.309+2 e5+2 1.000 - - - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 26 0 0.00 29 6 17.14 PRRC2A 0 genome.wustl.edu 37 6 31604868 31604868 + Missense_Mutation SNP G G T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 6 31604868 31604868 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.6197 p.S2066I 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 52 0 0.00 68 8 10.53 KNCN 0 genome.wustl.edu 37 1 47013251 47013251 + R SNP A A T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 47013251 47013251 A T SNP KNCN ENST00000524908 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors KNCN HGNC ENSG00000162456 tier1 - - 46 0 0.00 66 11 14.29 PLA2G2F 0 genome.wustl.edu 37 1 20474783 20474783 + Silent SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 20474783 20474783 C A SNP PLA2G2F ENST00000375102 human ensembl 74_37 +1 known silent c.525 p.G175 0.312 superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2F HGNC ENSG00000158786 tier1 - - 34 0 0.00 34 16 32.00 KRT71 0 genome.wustl.edu 37 12 52946513 52946513 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 12 52946513 52946513 C T SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known missense c.349 p.V117M 0.983 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 tier1 rs150480717 - 46 0 0.00 52 11 17.46 PAX5 0 genome.wustl.edu 37 9 36966611 36966611 + Missense_Mutation SNP G G A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 9 36966611 36966611 G A SNP PAX5 ENST00000358127 human ensembl 74_37 -1 known missense c.715 p.R239C 1.000 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 tier1 - - 28 0 0.00 26 5 16.13 CBWD6 0 genome.wustl.edu 37 9 69205352 69205352 + R SNP T T C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 9 69205352 69205352 T C SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 122 0 0.00 187 19 9.22 HERC2P4 0 genome.wustl.edu 37 16 32192057 32192057 + R SNP A A T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 16 32192057 32192057 A T SNP HERC2P4 ENST00000568097 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 80 0 0.00 87 16 15.53 SHROOM2 0 genome.wustl.edu 37 X 9905384 9905384 + Missense_Mutation SNP G G C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 X 9905384 9905384 G C SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.3798 p.Q1266H 0.978 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 27 0 0.00 32 6 15.79 COA6 0 genome.wustl.edu 37 1 234519488 234519488 + Missense_Mutation SNP G G C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 234519488 234519488 G C SNP COA6 ENST00000366615 human ensembl 74_37 +1 novel missense c.392 p.R131T 1.000 pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B - no_errors COA6 HGNC ENSG00000168275 tier1 - - 95 0 0.00 103 14 11.86 ACSF2 0 genome.wustl.edu 37 17 48539878 48539878 + Silent SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 48539878 48539878 C T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known silent c.724 p.L242 0.066 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 tier1 - - 24 0 0.00 31 5 13.89 STK31 0 genome.wustl.edu 37 7 23775341 23775341 + Frame_Shift_Del DEL A A - TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 23775341 23775341 A - DEL STK31 ENST00000355870 human ensembl 74_37 +1 known frame_shift_del c.668 p.K225fs 0.996 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 tier1 20 0 0.00 22 3 12.00 PTPRZ1 0 genome.wustl.edu 37 7 121616308 121616308 + Missense_Mutation SNP T T C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 121616308 121616308 T C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.538 p.S180P 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a 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 tier1 - - 78 0 0.00 52 20 27.78 KIF7 0 genome.wustl.edu 37 15 90176192 90176192 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 90176192 90176192 C G SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.2754 p.E918D 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 KIF7 HGNC ENSG00000166813 tier1 - - 21 0 0.00 34 8 19.05 PTP4A2 0 genome.wustl.edu 37 1 32384716 32384717 + R INS - - A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 1 32384716 32384717 - A INS PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 18 0 0.00 28 4 12.50 ENSG00000259241 0 genome.wustl.edu 37 15 51987959 51987960 + R INS - - A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 15 51987959 51987960 - A INS ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 tier1 12 0 0.00 21 7 25.00 CHD3 0 genome.wustl.edu 37 17 7810447 7810447 + Missense_Mutation SNP C C G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 7810447 7810447 C G SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4670 p.T1557S 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 32 0 0.00 31 19 38.00 ANKRD20A11P 0 genome.wustl.edu 37 21 15290022 15290022 + R SNP T T C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 21 15290022 15290022 T C SNP ANKRD20A11P ENST00000442192 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 - - 204 0 0.00 129 93 41.89 UBN2 0 genome.wustl.edu 37 7 138916591 138916591 + Silent SNP C C A TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 7 138916591 138916591 C A SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known silent c.361 p.R121 0.765 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 23 0 0.00 23 4 14.81 CHD3 0 genome.wustl.edu 37 17 7810227 7810227 + Missense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 7810227 7810227 C T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4544 p.P1515L 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 22 0 0.00 15 6 28.57 CHD3 0 genome.wustl.edu 37 17 7810224 7810224 + Missense_Mutation SNP T T G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 7810224 7810224 T G SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4541 p.M1514R 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 22 0 0.00 16 5 23.81 CHCHD6 0 genome.wustl.edu 37 3 126633574 126633574 + Missense_Mutation SNP A A G TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 3 126633574 126633574 A G SNP CHCHD6 ENST00000290913 human ensembl 74_37 +1 known missense c.547 p.K183E 0.498 pfam_DUF737 pfam_DUF737 - no_errors CHCHD6 HGNC ENSG00000159685 tier1 - - 50 0 0.00 78 12 13.33 ZNF469 0 genome.wustl.edu 37 16 88496432 88496432 + Missense_Mutation SNP G G C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 16 88496432 88496432 G C SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.2554 p.E852Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 32 0 0.00 66 7 9.59 ANKRD18B 0 genome.wustl.edu 37 9 33548671 33548671 + Nonsense_Mutation SNP C C T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 9 33548671 33548671 C T SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known nonsense c.1699 p.R567* 0.918 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 63 0 0.00 75 7 8.54 LOC100631378 0 genome.wustl.edu 37 19 38327603 38327603 + R SNP G G C TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 19 38327603 38327603 G C SNP LOC100631378 ENST00000433142 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors AC016582.2 Clone_based_vega_gene ENSG00000225868 tier1 - - 45 0 0.00 64 7 9.86 KRT33B 0 genome.wustl.edu 37 17 39521801 39521801 + Missense_Mutation SNP A A T TCGA-DX-A8BG-01A-12D-A417-09 TCGA-DX-A8BG-10B-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 80ec1e1f-5a5b-4bd5-b943-a5e7b19d52be f98679ff-cde8-4cd6-8906-fa6534122ba7 17 39521801 39521801 A T SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known missense c.593 p.V198D 0.999 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 tier1 - - 29 0 0.00 61 8 11.59