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 PDE4DIP 0 genome.wustl.edu 37 1 145075742 145075742 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 145075742 145075742 G A SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known nonsense c.121 p.Q41* 0.002 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 103 0 0 96 6 5.88235 ANKRD35 0 genome.wustl.edu 37 1 145562224 145562224 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 145562224 145562224 C T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.1912 p.R638W 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 ANKRD35 HGNC ENSG00000198483 97 0 0 89 7 7.29167 ETV3L 0 genome.wustl.edu 37 1 157062655 157062655 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 157062655 157062655 C T SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known missense c.872 p.G291E 0.994 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 44 0 0 21 11 34.375 KIRREL 0 genome.wustl.edu 37 1 158057640 158057640 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 158057640 158057640 T G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.757 p.L253V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 42 0 0 24 14 36.8421 ARHGEF10L 0 genome.wustl.edu 37 1 18023498 18023498 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 18023498 18023498 C A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.3463 p.P1155T 0.311 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 20 0 0 9 2 18.1818 KDM5B 0 genome.wustl.edu 37 1 202715452 202715452 + Splice_Site SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 202715452 202715452 C G SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known splice_site c.2125-1 e16-1 1.000 - - - no_errors KDM5B HGNC ENSG00000117139 54 0 0 48 5 9.43396 OR2G2 0 genome.wustl.edu 37 1 247752185 247752185 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 247752185 247752185 G A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.524 p.R175H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 130 0 0 97 36 27.0677 OR2G3 0 genome.wustl.edu 37 1 247769166 247769166 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 247769166 247769166 T C SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known silent c.279 p.T93 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 228 1 0.436681 184 63 25.5061 OR2M4 0 genome.wustl.edu 37 1 248402821 248402821 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 248402821 248402821 A G SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known silent c.591 p.R197 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 OR2M4 HGNC ENSG00000171180 116 0 0 74 41 35.6522 PHACTR4 0 genome.wustl.edu 37 1 28807116 28807116 + Missense_Mutation SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 28807116 28807116 G C SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known missense c.1790 p.R597P 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 155 0 0 81 20 19.802 PHACTR4 0 genome.wustl.edu 37 1 28823079 28823079 + RNA SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 28823079 28823079 G C SNP PHACTR4 ENST00000493669 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PHACTR4 HGNC ENSG00000204138 89 0 0 58 23 28.3951 PTCH2 0 genome.wustl.edu 37 1 45293539 45293539 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 45293539 45293539 C A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known silent c.2034 p.P678 0.276 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 62 0 0 61 12 16.4384 BEND5 0 genome.wustl.edu 37 1 49201942 49201942 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 49201942 49201942 G A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.1077 p.P359 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 110 0 0 71 37 34.2593 C1orf173 0 genome.wustl.edu 37 1 75037172 75037172 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 75037172 75037172 A C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4222 p.L1408V 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 155 0 0 84 34 28.8136 IFI44L 0 genome.wustl.edu 37 1 79093642 79093642 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 79093642 79093642 T A SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.42 p.H14Q 0.000 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 20 0 0 24 8 25 PLEKHN1 0 genome.wustl.edu 37 1 909420 909420 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 909420 909420 G A SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.1798 p.A600T 0.003 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 11 0 0 7 3 30 GFI1 0 genome.wustl.edu 37 1 92944272 92944272 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 92944272 92944272 G A SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known silent c.963 p.F321 0.973 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 92 0 0 55 24 30.3797 CPN1 0 genome.wustl.edu 37 10 101835745 101835745 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 101835745 101835745 C T SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.343 p.V115I 0.002 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 80 0 0 51 16 23.8806 ACSL5 0 genome.wustl.edu 37 10 114136171 114136171 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 114136171 114136171 C T SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known missense c.104 p.S35L 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 101 0 0 66 29 30.5263 USP6NL 0 genome.wustl.edu 37 10 11523795 11523795 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 11523795 11523795 C T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1121 p.R374Q 1.000 superfamily_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 USP6NL HGNC ENSG00000148429 39 0 0 32 6 15.7895 ATRNL1 0 genome.wustl.edu 37 10 117059577 117059577 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 117059577 117059577 A C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2449 p.N817H 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin 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 82 0 0 70 21 23.0769 C1QL3 0 genome.wustl.edu 37 10 16562644 16562644 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 16562644 16562644 C T SNP C1QL3 ENST00000298943 human ensembl 74_37 -1 known missense c.421 p.E141K 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL3 HGNC ENSG00000165985 76 0 0 46 27 36.9863 GAD2 0 genome.wustl.edu 37 10 26513561 26513561 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 26513561 26513561 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known silent c.705 p.G235 0.807 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 66 0 0 55 15 21.4286 BICC1 0 genome.wustl.edu 37 10 60560026 60560026 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 10 60560026 60560026 G T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.1798 p.D600Y 0.998 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 27 0 0 26 13 33.3333 DRD2 0 genome.wustl.edu 37 11 113295233 113295233 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 113295233 113295233 G T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known silent c.141 p.V47 1.000 prints_GPCR_Rhodpsn 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 122 0 0 64 24 27.2727 OR8B4 0 genome.wustl.edu 37 11 124294043 124294043 + Missense_Mutation SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 124294043 124294043 G C SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.725 p.S242C 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 50 0 0 24 12 33.3333 OPCML 0 genome.wustl.edu 37 11 132290089 132290089 + Nonstop_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 132290089 132290089 A G SNP OPCML ENST00000541867 human ensembl 74_37 -1 known nonstop c.1063 p.*355R 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 57 0 0 65 18 21.6867 NELL1 0 genome.wustl.edu 37 11 20959354 20959354 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 20959354 20959354 A C SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.1020 p.K340N 1.000 smart_VWF_C 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 54 0 0 45 14 23.7288 CD44 0 genome.wustl.edu 37 11 35232982 35232982 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 35232982 35232982 A G SNP CD44 ENST00000428726 human ensembl 74_37 +1 known missense c.1796 p.N599S 0.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 93 0 0 82 34 29.3103 RAG1 0 genome.wustl.edu 37 11 36594879 36594879 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 36594879 36594879 T G SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.25 p.L9V 0.046 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 84 0 0 49 32 39.5062 LRRC4C 0 genome.wustl.edu 37 11 40136913 40136913 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 40136913 40136913 C A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known silent c.930 p.L310 0.997 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 52 0 0 44 17 27.8689 CHST1 0 genome.wustl.edu 37 11 45671646 45671646 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 45671646 45671646 G A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.828 p.C276 0.999 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 93 0 0 52 29 35.8025 OR4A47 0 genome.wustl.edu 37 11 48510689 48510689 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 48510689 48510689 G T SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known silent c.345 p.V115 0.005 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 OR4A47 HGNC ENSG00000237388 68 0 0 69 22 24.1758 OR51M1 0 genome.wustl.edu 37 11 5411155 5411155 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 5411155 5411155 A G SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.527 p.K176R 0.008 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 OR51M1 HGNC ENSG00000184698 235 0 0 143 52 26.6667 OR8H3 0 genome.wustl.edu 37 11 55890635 55890635 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 55890635 55890635 A G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.787 p.R263G 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 93 0 0 77 35 31.25 OR9Q2 0 genome.wustl.edu 37 11 57958763 57958763 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 57958763 57958763 C A SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known silent c.801 p.S267 0.003 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 OR9Q2 HGNC ENSG00000186513 90 0 0 68 24 26.087 PGA5 0 genome.wustl.edu 37 11 61017430 61017430 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 61017430 61017430 G A SNP PGA5 ENST00000312403 human ensembl 74_37 +1 known missense c.961 p.V321I 0.419 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 36 0 0 21 14 40 TYR 0 genome.wustl.edu 37 11 88961116 88961116 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 88961116 88961116 C A SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.1162 p.L388I 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 70 0 0 73 14 16.092 TRIM49C 0 genome.wustl.edu 37 11 89774393 89774393 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 89774393 89774393 T G SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.1034 p.V345G 0.162 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,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,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 TRIM49C HGNC ENSG00000204449 64 0 0 33 15 31.25 FAM76B 0 genome.wustl.edu 37 11 95509183 95509183 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 11 95509183 95509183 G A SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known missense c.833 p.T278I 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 30 0 0 33 10 23.2558 CUX2 0 genome.wustl.edu 37 12 111779799 111779799 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 111779799 111779799 C A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.3601 p.L1201I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 127 0 0 53 26 32.9114 ETV6 0 genome.wustl.edu 37 12 12022503 12022503 + Silent SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 12022503 12022503 C G SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known silent c.609 p.S203 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 229 0 0 173 23 11.7347 TMEM132D 0 genome.wustl.edu 37 12 129563232 129563232 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 129563232 129563232 C A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1962 p.K654N 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 122 0 0 98 18 15.5172 ST8SIA1 0 genome.wustl.edu 37 12 22408298 22408298 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 22408298 22408298 T G SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.407 p.K136T 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 163 1 0.609756 143 58 28.8557 ARID2 0 genome.wustl.edu 37 12 46231349 46231349 + Nonsense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 46231349 46231349 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known nonsense c.1189 p.Q397* 1.000 superfamily_ARM-type_fold 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 94 0 0 33 35 51.4706 KCNA1 0 genome.wustl.edu 37 12 5020801 5020801 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 5020801 5020801 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.257 p.R86Q 1.000 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_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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 91 0 0 53 29 35.3659 SCN8A 0 genome.wustl.edu 37 12 52100394 52100394 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 52100394 52100394 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.1530 p.G510 0.997 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 18 0 0 16 4 20 HOXC6 0 genome.wustl.edu 37 12 54423485 54423485 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 54423485 54423485 G A SNP HOXC6 ENST00000243108 human ensembl 74_37 +1 known silent c.447 p.S149 0.983 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 HOXC6 HGNC ENSG00000197757 177 0 0 105 39 27.0833 GAPDH 0 genome.wustl.edu 37 12 6647006 6647006 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 6647006 6647006 T C SNP GAPDH ENST00000229239 human ensembl 74_37 +1 known missense c.782 p.V261A 0.992 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 58 0 0 30 10 25 NAV3 0 genome.wustl.edu 37 12 78444720 78444720 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 78444720 78444720 G A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2309 p.R770Q 1.000 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 28 0 0 13 11 45.8333 LIN7A 0 genome.wustl.edu 37 12 81283099 81283099 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 81283099 81283099 T G SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.132 p.E44D 0.998 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 31 0 0 30 13 30.2326 NALCN 0 genome.wustl.edu 37 13 102030937 102030937 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 102030937 102030937 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.359 p.V120A 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 58 0 0 28 14 33.3333 SOX1 0 genome.wustl.edu 37 13 112722355 112722355 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 112722355 112722355 C T SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.383 p.T128M 1.000 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 59 0 0 11 13 54.1667 SACS 0 genome.wustl.edu 37 13 23905184 23905184 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 23905184 23905184 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.12831 p.P4277 0.291 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 83 0 0 64 11 14.6667 HSPH1 0 genome.wustl.edu 37 13 31725791 31725791 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 31725791 31725791 T C SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known silent c.624 p.S208 0.382 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 36 0 0 19 17 47.2222 NBEA 0 genome.wustl.edu 37 13 36242529 36242529 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 36242529 36242529 C A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8623 p.Q2875K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom 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 23 0 0 8 4 33.3333 TRPC4 0 genome.wustl.edu 37 13 38229234 38229234 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 38229234 38229234 T C SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known silent c.1875 p.Q625 1.000 prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 16 0 0 7 4 36.3636 SLITRK5 0 genome.wustl.edu 37 13 88329829 88329829 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 13 88329829 88329829 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2186 p.A729V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 79 0 0 28 10 26.3158 AHNAK2 0 genome.wustl.edu 37 14 105416442 105416442 + Silent SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 14 105416442 105416442 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.5346 p.V1782 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 336 1 0.296736 169 56 24.8889 TRIM9 0 genome.wustl.edu 37 14 51561231 51561231 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 14 51561231 51561231 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.427 p.R143C 1.000 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 27 0 0 18 10 35.7143 TMX1 0 genome.wustl.edu 37 14 51721136 51721136 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 14 51721136 51721136 G A SNP TMX1 ENST00000457354 human ensembl 74_37 +1 known missense c.742 p.E248K 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 71 0 0 55 38 40.8602 FBXO34 0 genome.wustl.edu 37 14 55818684 55818684 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 14 55818684 55818684 G T SNP FBXO34 ENST00000313833 human ensembl 74_37 +1 known missense c.1576 p.G526W 0.001 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 166 0 0 116 32 21.6216 AREL1 0 genome.wustl.edu 37 14 75143434 75143434 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 14 75143434 75143434 G A SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known missense c.503 p.T168I 1.000 superfamily_Ig_E-set pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 77 0 0 29 18 38.2979 GANC 0 genome.wustl.edu 37 15 42641627 42641627 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 42641627 42641627 A G SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.2465 p.Q822R 0.995 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 101 1 0.980392 82 21 20.3883 EPB42 0 genome.wustl.edu 37 15 43494042 43494042 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 43494042 43494042 C T SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known missense c.2003 p.R668K 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 199 0 0 131 7 5.07246 TP53BP1 0 genome.wustl.edu 37 15 43701941 43701941 + Splice_Site SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 43701941 43701941 T C SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known splice_site c.5306-2 e25-2 1.000 - - - no_errors TP53BP1 HGNC ENSG00000067369 16 0 0 18 8 30.7692 SEMA6D 0 genome.wustl.edu 37 15 48056124 48056124 + Silent SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 48056124 48056124 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.825 p.T275 0.808 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 101 0 0 93 21 18.4211 ENSG00000187812 0 genome.wustl.edu 37 15 76074441 76074441 + RNA SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 76074441 76074441 A T SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 44 0 0 58 4 6.45161 ADAMTSL3 0 genome.wustl.edu 37 15 84651800 84651800 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 84651800 84651800 C A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.3420 p.G1140 0.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 38 0 0 30 15 33.3333 RLBP1 0 genome.wustl.edu 37 15 89760498 89760498 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 89760498 89760498 G T SNP RLBP1 ENST00000268125 human ensembl 74_37 -1 known missense c.199 p.Q67K 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom - no_errors RLBP1 HGNC ENSG00000140522 120 0 0 84 32 27.5862 IQGAP1 0 genome.wustl.edu 37 15 91035841 91035841 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 91035841 91035841 C T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4526 p.T1509I 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 42 0 0 34 12 26.087 CHD2 0 genome.wustl.edu 37 15 93467679 93467679 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 15 93467679 93467679 C T SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known missense c.191 p.S64L 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 153 1 0.649351 106 61 36.5269 IFT140 0 genome.wustl.edu 37 16 1634361 1634361 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 1634361 1634361 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1216 p.E406K 1.000 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 28 0 0 17 5 22.7273 XYLT1 0 genome.wustl.edu 37 16 17352902 17352902 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 17352902 17352902 G A SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.856 p.R286C 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 87 0 0 34 20 37.037 VWA3A 0 genome.wustl.edu 37 16 22130291 22130291 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 22130291 22130291 C T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known silent c.1059 p.H353 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 45 0 0 28 17 37.7778 SLC5A2 0 genome.wustl.edu 37 16 31500028 31500028 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 31500028 31500028 C T SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known silent c.1215 p.F405 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 SLC5A2 HGNC ENSG00000140675 37 0 0 25 13 34.2105 CES1 0 genome.wustl.edu 37 16 55857581 55857581 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 55857581 55857581 G T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known silent c.420 p.I140 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 48 0 0 63 9 12.5 KCTD19 0 genome.wustl.edu 37 16 67325601 67325601 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 67325601 67325601 C T SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known silent c.2358 p.T786 0.660 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 113 0 0 48 28 36.8421 RHOT2 0 genome.wustl.edu 37 16 720267 720267 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 720267 720267 G A SNP RHOT2 ENST00000561983 human ensembl 74_37 +1 known missense c.331 p.G111R 1.000 NULL pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase - no_errors RHOT2 HGNC ENSG00000140983 115 0 0 48 22 31.4286 RBFOX1 0 genome.wustl.edu 37 16 7703860 7703860 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 7703860 7703860 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known silent c.930 p.Y310 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 56 0 0 43 16 27.1186 ZCCHC14 0 genome.wustl.edu 37 16 87451107 87451107 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 16 87451107 87451107 G A SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.931 p.H311Y 1.000 pfam_SAM_type1,superfamily_SAM/pointed pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 284 1 0.350877 166 73 30.5439 TAF15 0 genome.wustl.edu 37 17 34160922 34160922 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 34160922 34160922 G A SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known missense c.617 p.R206H 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 43 0 0 39 12 23.5294 KRT35 0 genome.wustl.edu 37 17 39633390 39633390 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 39633390 39633390 G A SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.1286 p.A429V 0.416 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 78 0 0 90 5 5.26316 NXN 0 genome.wustl.edu 37 17 729219 729219 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 729219 729219 T A SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.460 p.I154F 1.000 NULL pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 45 0 0 13 7 35 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 45 0 0 13 14 51.8519 EFNB3 0 genome.wustl.edu 37 17 7611546 7611546 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 7611546 7611546 G T SNP EFNB3 ENST00000226091 human ensembl 74_37 +1 known silent c.393 p.S131 0.098 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 127 1 0.78125 40 32 44.4444 DUS1L 0 genome.wustl.edu 37 17 80017925 80017925 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 80017925 80017925 C T SNP DUS1L ENST00000306796 human ensembl 74_37 -1 known missense c.1067 p.R356Q 1.000 NULL pfam_tRNA_hU_synthase - no_errors DUS1L HGNC ENSG00000169718 44 0 0 36 5 12.1951 FASN 0 genome.wustl.edu 37 17 80039961 80039961 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 17 80039961 80039961 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.6087 p.A2029 0.004 pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR 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 69 18 20.6897 POTEC 0 genome.wustl.edu 37 18 14542958 14542958 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 18 14542958 14542958 T G SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.188 p.K63T 0.005 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 POTEC HGNC ENSG00000183206 274 0 0 169 14 7.65027 CTAGE1 0 genome.wustl.edu 37 18 19997725 19997725 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 18 19997725 19997725 C T SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known missense c.50 p.R17H 0.000 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 45 0 0 63 5 7.35294 DCC 0 genome.wustl.edu 37 18 51053126 51053126 + Silent SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 18 51053126 51053126 C A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.4251 p.A1417 1.000 pfam_Neogenin_C pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 68 0 0 26 10 27.7778 L3MBTL4 0 genome.wustl.edu 37 18 6239858 6239858 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 18 6239858 6239858 G T SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.566 p.S189Y 0.043 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 41 0 0 20 13 39.3939 ARHGAP28 0 genome.wustl.edu 37 18 6859866 6859866 + Silent SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 18 6859866 6859866 G C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known silent c.696 p.G232 0.557 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 223 0 0 142 26 15.4762 ZNF439 0 genome.wustl.edu 37 19 11978219 11978219 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 11978219 11978219 A C SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.335 p.K112T 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 ZNF439 HGNC ENSG00000171291 168 0 0 56 43 43.4343 ZNF585B 0 genome.wustl.edu 37 19 37676443 37676443 + Missense_Mutation SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 37676443 37676443 C G SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.1996 p.E666Q 0.014 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 49 0 0 27 13 32.5 PVRL2 0 genome.wustl.edu 37 19 45368587 45368587 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 45368587 45368587 G A SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.148 p.V50M 0.390 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom 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 129 0 0 52 30 36.5854 ZNF347 0 genome.wustl.edu 37 19 53645699 53645699 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 53645699 53645699 C T SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.385 p.G129R 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 ZNF347 HGNC ENSG00000197937 90 0 0 54 26 32.5 PTPRH 0 genome.wustl.edu 37 19 55693420 55693420 + Missense_Mutation SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 55693420 55693420 C G SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.3162 p.K1054N 0.884 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,prints_Tyr_Pase_rcpt/non-rcpt 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 179 0 0 100 39 28.0576 BRSK1 0 genome.wustl.edu 37 19 55823347 55823347 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 55823347 55823347 C T SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.2296 p.R766C 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 BRSK1 HGNC ENSG00000160469 18 0 0 11 8 42.1053 NLRP8 0 genome.wustl.edu 37 19 56466131 56466131 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 56466131 56466131 A G SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.707 p.K236R 0.661 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 129 0 0 66 23 25.8427 ZNF470 0 genome.wustl.edu 37 19 57088868 57088868 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 57088868 57088868 T C SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known silent c.1071 p.H357 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 ZNF470 HGNC ENSG00000197016 46 0 0 45 21 31.8182 PEG3 0 genome.wustl.edu 37 19 57335788 57335788 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 57335788 57335788 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.236 p.T79N 0.011 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 100 0 0 73 26 26.2626 MED16 0 genome.wustl.edu 37 19 872114 872114 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 872114 872114 G A SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1910 p.S637F 1.000 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 54 0 0 7 9 56.25 MUC16 0 genome.wustl.edu 37 19 9066275 9066275 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 9066275 9066275 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21171 p.K7057N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 130 0 0 44 35 44.3038 EIF5B 0 genome.wustl.edu 37 2 100009484 100009484 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 100009484 100009484 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.2803 p.G935R 1.000 pfam_Transl_elong_EFTu/EF1A_2 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 55 0 0 35 16 31.3725 PXDN 0 genome.wustl.edu 37 2 1652213 1652213 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 1652213 1652213 G T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3339 p.G1113 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 34 0 0 20 7 25.9259 SCN3A 0 genome.wustl.edu 37 2 166020363 166020363 + Missense_Mutation SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 166020363 166020363 G C SNP SCN3A ENST00000360093 human ensembl 74_37 -1 known missense c.643 p.L215V 1.000 pfam_Ion_trans_dom 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 38 0 0 39 10 20.4082 SCN9A 0 genome.wustl.edu 37 2 167141141 167141141 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 167141141 167141141 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1799 p.S600N 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 72 0 0 69 26 27.3684 PXDN 0 genome.wustl.edu 37 2 1677547 1677547 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 1677547 1677547 A C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.886 p.L296V 0.617 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 96 0 0 60 21 25.9259 TTN 0 genome.wustl.edu 37 2 179654102 179654102 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 179654102 179654102 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2061 p.Q687H 0.955 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 98 0 0 84 39 31.7073 CCDC141 0 genome.wustl.edu 37 2 179702352 179702352 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 179702352 179702352 T G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.3594 p.E1198D 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 113 0 0 57 24 29.6296 DNAH7 0 genome.wustl.edu 37 2 196673538 196673538 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 196673538 196673538 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.9951 p.A3317 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 37 0 0 37 11 22.9167 PUM2 0 genome.wustl.edu 37 2 20511426 20511426 + Splice_Site SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 20511426 20511426 T C SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known splice_site c.349-2 e4-2 1.000 - - - no_errors PUM2 HGNC ENSG00000055917 29 0 0 25 9 26.4706 MDH1B 0 genome.wustl.edu 37 2 207620121 207620121 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 207620121 207620121 T C SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known silent c.522 p.E174 0.002 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 43 0 0 36 21 36.8421 MAP2 0 genome.wustl.edu 37 2 210558112 210558112 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 210558112 210558112 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.1218 p.K406N 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 37 0 0 29 14 32.5581 FARSB 0 genome.wustl.edu 37 2 223488429 223488429 + Silent SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 223488429 223488429 A C SNP FARSB ENST00000281828 human ensembl 74_37 -1 known silent c.1191 p.T397 0.976 tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 83 0 0 65 29 30.8511 SPHKAP 0 genome.wustl.edu 37 2 228881277 228881277 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 228881277 228881277 A G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.4293 p.I1431 0.908 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 70 0 0 68 22 24.4444 ALPI 0 genome.wustl.edu 37 2 233322819 233322819 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 233322819 233322819 G A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.968 p.R323H 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 78 0 0 55 13 19.1176 OTOF 0 genome.wustl.edu 37 2 26688846 26688846 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 26688846 26688846 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.4599 p.I1533 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 89 0 0 49 21 30 OTOF 0 genome.wustl.edu 37 2 26690308 26690308 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 26690308 26690308 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.4152 p.K1384 0.998 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 76 0 0 34 3 8.10811 CAD 0 genome.wustl.edu 37 2 27465519 27465519 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 27465519 27465519 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.6254 p.R2085H 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf 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 134 0 0 57 18 24 CDC42EP3 0 genome.wustl.edu 37 2 37873541 37873541 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 37873541 37873541 C T SNP CDC42EP3 ENST00000295324 human ensembl 74_37 -1 known missense c.190 p.E64K 0.999 pfam_CRIB_dom,smart_CRIB_dom pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP3 HGNC ENSG00000163171 136 1 0.729927 114 41 26.4516 GFPT1 0 genome.wustl.edu 37 2 69555475 69555475 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 69555475 69555475 C T SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known silent c.1821 p.V607 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 106 0 0 57 24 29.6296 GPAT2 0 genome.wustl.edu 37 2 96697824 96697824 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 2 96697824 96697824 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.134 p.P45L 1.000 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 77 0 0 41 10 19.6078 PAX1 0 genome.wustl.edu 37 20 21687213 21687213 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 20 21687213 21687213 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.424 p.V142I 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 73 0 0 52 20 27.7778 SDC4 0 genome.wustl.edu 37 20 43964515 43964515 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 20 43964515 43964515 G A SNP SDC4 ENST00000372733 human ensembl 74_37 -1 known nonsense c.106 p.R36* 0.521 NULL pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 73 0 0 50 12 19.3548 PCNA 0 genome.wustl.edu 37 20 5099508 5099508 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 20 5099508 5099508 A G SNP PCNA ENST00000379143 human ensembl 74_37 -1 known missense c.226 p.S76P 1.000 pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig pfam_Pr_cel_nuc_antig_C,pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig - no_errors PCNA HGNC ENSG00000132646 174 0 0 117 94 44.5498 BAGE2 0 genome.wustl.edu 37 21 11039010 11039010 + RNA SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 21 11039010 11039010 C A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.726 - - - no_errors BAGE2 HGNC ENSG00000187172 341 0 0 284 20 6.57895 BAGE2 0 genome.wustl.edu 37 21 11097600 11097600 + RNA SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 21 11097600 11097600 T G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors BAGE2 HGNC ENSG00000187172 100 0 0 73 7 8.75 LIPI 0 genome.wustl.edu 37 21 15538737 15538737 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 21 15538737 15538737 A C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.742 p.F248V 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 74 0 0 55 26 32.0988 TMPRSS15 0 genome.wustl.edu 37 21 19725236 19725236 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 21 19725236 19725236 A G SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.1155 p.T385 0.999 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom 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 137 0 0 73 35 32.4074 C21orf58 0 genome.wustl.edu 37 21 47731399 47731399 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 21 47731399 47731399 G T SNP C21orf58 ENST00000291691 human ensembl 74_37 -1 known missense c.692 p.P231H 0.066 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 39 0 0 17 4 19.0476 YPEL1 0 genome.wustl.edu 37 22 22057704 22057704 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 22 22057704 22057704 G A SNP YPEL1 ENST00000339468 human ensembl 74_37 -1 known silent c.225 p.A75 0.008 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL1 HGNC ENSG00000100027 148 0 0 183 31 14.486 SNRPD3 0 genome.wustl.edu 37 22 24953726 24953726 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 22 24953726 24953726 T C SNP SNRPD3 ENST00000215829 human ensembl 74_37 +1 known silent c.84 p.Y28 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC ENSG00000100028 121 0 0 100 30 23.0769 MYH9 0 genome.wustl.edu 37 22 36690198 36690198 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 22 36690198 36690198 G T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.3777 p.V1259 0.996 pfam_Myosin_tail,superfamily_STAT_TF_coiled-coil 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 153 1 0.649351 112 34 23.2877 COL6A5 0 genome.wustl.edu 37 3 130095348 130095348 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 3 130095348 130095348 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.336 p.K112 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 15 0 0 6 4 40 TRIM42 0 genome.wustl.edu 37 3 140397174 140397174 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 3 140397174 140397174 C T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.103 p.R35W 0.981 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 158 0 0 122 68 35.7895 CNTN6 0 genome.wustl.edu 37 3 1418726 1418726 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 3 1418726 1418726 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.2133 p.G711 0.982 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 99 0 0 57 43 43 TRAK1 0 genome.wustl.edu 37 3 42260998 42260998 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 3 42260998 42260998 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.1802 p.G601E 1.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 212 0 0 77 62 44.6043 SFMBT1 0 genome.wustl.edu 37 3 52968852 52968852 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 3 52968852 52968852 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.430 p.P144S 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 30 0 0 18 4 18.1818 FILIP1L 0 genome.wustl.edu 37 3 99569565 99569565 + Nonsense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 3 99569565 99569565 G A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known nonsense c.955 p.Q319* 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 200 0 0 172 52 23.2143 TRPC3 0 genome.wustl.edu 37 4 122853799 122853799 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 122853799 122853799 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.614 p.R205H 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel 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 39 0 0 34 16 32 EDNRA 0 genome.wustl.edu 37 4 148457038 148457038 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 148457038 148457038 G A SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known missense c.757 p.D253N 0.870 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 155 0 0 136 32 19.0476 DCHS2 0 genome.wustl.edu 37 4 155242139 155242139 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 155242139 155242139 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3047 p.T1016M 0.022 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 76 0 0 70 29 29.2929 ENSG00000231171 0 genome.wustl.edu 37 4 178896959 178896959 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 178896959 178896959 A G SNP ENSG00000231171 ENST00000507870 human ensembl 74_37 +1 putative silent c.162 p.G54 0.023 NULL NULL - no_errors RP11-389E17.1 Clone_based_vega_gene ENSG00000231171 96 0 0 61 27 30.6818 SLIT2 0 genome.wustl.edu 37 4 20487885 20487885 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 20487885 20487885 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.602 p.L201R 1.000 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,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_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 56 0 0 49 10 16.9492 LOC401127 0 genome.wustl.edu 37 4 39482354 39482354 + RNA SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 39482354 39482354 C T SNP LOC401127 ENST00000597991 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 64 0 0 36 14 28 LIMCH1 0 genome.wustl.edu 37 4 41648596 41648596 + Missense_Mutation SNP A A C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 41648596 41648596 A C SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.2506 p.T836P 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 169 0 0 162 15 8.47458 BEND4 0 genome.wustl.edu 37 4 42145964 42145964 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 42145964 42145964 G T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.535 p.L179I 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 23 0 0 7 5 41.6667 GRXCR1 0 genome.wustl.edu 37 4 42895343 42895343 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 42895343 42895343 C T SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known silent c.60 p.I20 0.953 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 84 0 0 100 20 16.6667 PIGG 0 genome.wustl.edu 37 4 509771 509771 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 509771 509771 G A SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.911 p.R304Q 0.012 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 112 0 0 76 23 23.2323 WFS1 0 genome.wustl.edu 37 4 6303278 6303278 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 6303278 6303278 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1756 p.A586T 0.002 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 124 0 0 58 28 32.5581 UGT2B28 0 genome.wustl.edu 37 4 70146482 70146482 + Missense_Mutation SNP T T A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 70146482 70146482 T A SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.264 p.N88K 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 92 0 0 183 10 5.18135 C4orf40 0 genome.wustl.edu 37 4 71020099 71020099 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 71020099 71020099 C A SNP C4orf40 ENST00000344526 human ensembl 74_37 +1 known missense c.7 p.L3I 0.261 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 50 0 0 38 15 28.3019 SEPT11 0 genome.wustl.edu 37 4 77955707 77955707 + RNA SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 4 77955707 77955707 G T SNP SEPT11 ENST00000512575 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEPT11 HGNC ENSG00000138758 9 0 0 21 2 8.69565 FBN2 0 genome.wustl.edu 37 5 127614390 127614390 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 127614390 127614390 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7282 p.P2428S 1.000 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 113 0 0 64 20 23.8095 DNAH5 0 genome.wustl.edu 37 5 13824336 13824336 + Missense_Mutation SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 13824336 13824336 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6551 p.V2184E 0.998 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 DNAH5 HGNC ENSG00000039139 58 0 0 38 18 32.1429 PCDHA1 0 genome.wustl.edu 37 5 140168138 140168138 + Missense_Mutation SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 140168138 140168138 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.2263 p.R755W 0.373 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 37 0 0 23 8 25.8065 PCDHA13 0 genome.wustl.edu 37 5 140263569 140263569 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 140263569 140263569 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1716 p.S572 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 86 0 0 68 24 26.087 PCDHB12 0 genome.wustl.edu 37 5 140590358 140590358 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 140590358 140590358 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1879 p.A627T 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 PCDHB12 HGNC ENSG00000120328 99 0 0 78 17 17.8947 TCERG1 0 genome.wustl.edu 37 5 145838680 145838680 + Silent SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 145838680 145838680 A G SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.672 p.Q224 0.999 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 24 0 0 19 4 17.3913 CYFIP2 0 genome.wustl.edu 37 5 156816394 156816394 + Silent SNP C C T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 156816394 156816394 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.3480 p.F1160 0.460 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 29 0 0 17 5 22.7273 HMMR 0 genome.wustl.edu 37 5 162901197 162901197 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 162901197 162901197 C A SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.1039 p.L347M 0.698 NULL NULL - no_errors HMMR HGNC ENSG00000072571 33 0 0 15 6 28.5714 NIPBL 0 genome.wustl.edu 37 5 37020626 37020626 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 37020626 37020626 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.5076 p.M1692I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 79 0 0 59 26 30.5882 C5orf42 0 genome.wustl.edu 37 5 37183749 37183749 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 37183749 37183749 T C SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.4534 p.R1512G 0.998 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 56 0 0 41 18 30.5085 CMYA5 0 genome.wustl.edu 37 5 79031976 79031976 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 79031976 79031976 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.7388 p.R2463I 0.019 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 51 0 0 48 20 29.4118 GPR98 0 genome.wustl.edu 37 5 89949196 89949196 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 5 89949196 89949196 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3805 p.F1269V 1.000 NULL 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 51 0 0 42 14 25 TMEM200A 0 genome.wustl.edu 37 6 130761908 130761908 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 6 130761908 130761908 G A SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.341 p.R114H 0.989 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 68 0 0 20 20 50 NUP153 0 genome.wustl.edu 37 6 17675564 17675564 + Missense_Mutation SNP G G C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 6 17675564 17675564 G C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.619 p.L207V 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 40 0 0 29 16 35.5556 PRSS3P2 0 genome.wustl.edu 37 7 142481888 142481888 + RNA SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 142481888 142481888 T C SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors PRSS3P2 HGNC ENSG00000250606 126 1 0.787402 145 8 5.22876 ASIC3 0 genome.wustl.edu 37 7 150747659 150747659 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 150747659 150747659 G T SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known silent c.777 p.P259 0.022 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 143 0 0 53 3 5.35714 DNAJB6 0 genome.wustl.edu 37 7 157177654 157177654 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 157177654 157177654 T C SNP DNAJB6 ENST00000262177 human ensembl 74_37 +1 known missense c.572 p.I191T 0.986 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 101 0 0 35 31 46.9697 GPR141 0 genome.wustl.edu 37 7 37780254 37780254 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 37780254 37780254 T G SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.259 p.F87V 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 67 0 0 44 25 36.2319 AMPH 0 genome.wustl.edu 37 7 38534094 38534094 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 38534094 38534094 G A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.239 p.S80L 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 111 0 0 83 34 29.0598 ZNF107 0 genome.wustl.edu 37 7 64168394 64168394 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 64168394 64168394 A G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1712 p.K571R 0.966 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 79 0 0 55 28 33.7349 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 14 0 0 14 3 17.6471 GSAP 0 genome.wustl.edu 37 7 77035392 77035392 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 77035392 77035392 T C SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.140 p.H47R 1.000 NULL NULL - no_errors GSAP HGNC ENSG00000186088 10 0 0 9 14 60.8696 CDK14 0 genome.wustl.edu 37 7 90546950 90546950 + Missense_Mutation SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 90546950 90546950 A T SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.737 p.Y246F 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 CDK14 HGNC ENSG00000058091 97 0 0 113 77 40.5263 PON1 0 genome.wustl.edu 37 7 94937461 94937461 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 7 94937461 94937461 A G SNP PON1 ENST00000222381 human ensembl 74_37 -1 known missense c.560 p.L187P 0.000 pfam_Arylesterase,pfam_SGL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 36 0 0 49 21 30 VPS13B 0 genome.wustl.edu 37 8 100729456 100729456 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 100729456 100729456 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.6587 p.S2196N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 63 0 0 46 13 22.0339 ZFPM2 0 genome.wustl.edu 37 8 106431376 106431376 + Silent SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 106431376 106431376 G T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.45 p.P15 0.983 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 29 0 0 42 12 22.2222 DLC1 0 genome.wustl.edu 37 8 13357278 13357278 + Silent SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 13357278 13357278 T C SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.303 p.E101 0.917 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 273 0 0 202 93 31.5254 ZNF34 0 genome.wustl.edu 37 8 145998712 145998712 + Missense_Mutation SNP C C A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 145998712 145998712 C A SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known missense c.1622 p.R541L 0.702 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 ZNF34 HGNC ENSG00000196378 94 0 0 67 34 33.6634 PSD3 0 genome.wustl.edu 37 8 18729760 18729760 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 18729760 18729760 G A SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.614 p.T205M 0.000 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 113 0 0 82 33 28.6957 DKK4 0 genome.wustl.edu 37 8 42231770 42231770 + Missense_Mutation SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 42231770 42231770 C G SNP DKK4 ENST00000220812 human ensembl 74_37 -1 known missense c.523 p.V175L 1.000 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 128 0 0 98 6 5.76923 PXDNL 0 genome.wustl.edu 37 8 52323896 52323896 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 52323896 52323896 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.1976 p.A659V 0.164 NULL 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 PXDNL HGNC ENSG00000147485 13 0 0 9 10 52.6316 TCEA1 0 genome.wustl.edu 37 8 54891686 54891686 + Missense_Mutation SNP T T C TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 54891686 54891686 T C SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known missense c.724 p.K242E 1.000 pfam_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 113 0 0 97 14 12.6126 MCPH1 0 genome.wustl.edu 37 8 6312749 6312749 + Missense_Mutation SNP G G T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 8 6312749 6312749 G T SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.1911 p.L637F 0.000 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 109 0 0 81 29 26.3636 BARHL1 0 genome.wustl.edu 37 9 135462862 135462862 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 9 135462862 135462862 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.613 p.V205M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 18 0 0 3 11 78.5714 BNC2 0 genome.wustl.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 9 16436469 16436469 T G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1723 p.S575R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 87 0 0 42 30 41.6667 ATP11C 0 genome.wustl.edu 37 X 138856961 138856961 + Missense_Mutation SNP T T G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 X 138856961 138856961 T G SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.2113 p.T705P 0.935 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 76 0 0 37 39 51.3158 PRRG3 0 genome.wustl.edu 37 X 150869097 150869097 + Silent SNP C C G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 X 150869097 150869097 C G SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known silent c.288 p.A96 1.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 119 0 0 39 57 59.375 ATP2B3 0 genome.wustl.edu 37 X 152813388 152813388 + Missense_Mutation SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 X 152813388 152813388 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1054 p.A352T 0.931 pfam_ATPase_P-typ_transduc_dom_A,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 76 0 0 26 28 51.8519 TRO 0 genome.wustl.edu 37 X 54956444 54956444 + Missense_Mutation SNP A A T TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 X 54956444 54956444 A T SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.3287 p.N1096I 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 31 0 0 13 17 56.6667 MSN 0 genome.wustl.edu 37 X 64949468 64949468 + Missense_Mutation SNP A A G TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 X 64949468 64949468 A G SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.361 p.T121A 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 30 0 0 10 20 66.6667 PCDH11X 0 genome.wustl.edu 37 X 91133636 91133636 + Silent SNP G G A TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 X 91133636 91133636 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.2397 p.E799 0.999 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 38 0 0 18 33 64.7059 CDC73 0 genome.wustl.edu 37 1 193107220 193107221 + Frame_Shift_Del DEL AG AG - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 1 193107220 193107221 AG - DEL CDC73 ENST00000367435 human ensembl 74_37 +1 known frame_shift_del c.429_430 p.E144fs 1.000:1.000 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 103 0 0 71 29 29 GOLGA3 0 genome.wustl.edu 37 12 133357449 133357449 + Frame_Shift_Del DEL G G - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 133357449 133357449 G - DEL GOLGA3 ENST00000204726 human ensembl 74_37 -1 known frame_shift_del c.3517 p.V1174fs 0.989 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 100 0 0 101 23 18.5484 IKBIP 0 genome.wustl.edu 37 12 99007790 99007790 + Frame_Shift_Del DEL T T - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 12 99007790 99007790 T - DEL IKBIP ENST00000342502 human ensembl 74_37 -1 known frame_shift_del c.626 p.N209fs 0.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 56 0 0 46 20 30.303 ZNF177 0 genome.wustl.edu 37 19 9489708 9489708 + Frame_Shift_Del DEL A A - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 19 9489708 9489708 A - DEL ZNF177 ENST00000434737 human ensembl 74_37 +1 known frame_shift_del c.104 p.N37fs 0.528 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 ZNF177 HGNC ENSG00000188629 76 0 0 30 18 37.5 NOP56 0 genome.wustl.edu 37 20 2638596 2638598 + In_Frame_Del DEL AAG AAG - TCGA-D7-6525-01A-11D-1800-08 TCGA-D7-6525-10A-01D-1800-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1802f450-e90b-4642-9408-cc9736df76b5 3cbf6b07-f408-4018-a236-41c3e280c557 20 2638596 2638598 AAG - DEL NOP56 ENST00000329276 human ensembl 74_37 +1 known in_frame_del c.1441_1443 p.K484in_frame_del 1.000:1.000:1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 259 0 0 208 107 33.9683