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 COL11A1 0 genome.wustl.edu 37 1 103388939 103388939 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 103388939 103388939 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3643 p.P1215S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 12 0 0 14 5 26.3158 CASZ1 0 genome.wustl.edu 37 1 10715849 10715849 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 10715849 10715849 C A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1522 p.V508L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 70 0 0 63 33 34.375 CASZ1 0 genome.wustl.edu 37 1 10720568 10720568 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 10720568 10720568 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.531 p.Y177 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 36 0 0 21 19 47.5 KCNC4 0 genome.wustl.edu 37 1 110766127 110766127 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 110766127 110766127 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.1220 p.A407V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 155 0 0 158 78 33.0508 EXOSC10 0 genome.wustl.edu 37 1 11141285 11141285 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 11141285 11141285 C T SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1291 p.E431K 0.993 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 117 1 0.847458 126 56 30.7692 OVGP1 0 genome.wustl.edu 37 1 111957202 111957202 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 111957202 111957202 G A SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1921 p.R641C 0.000 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 84 0 0 73 27 27 PDE4DIP 0 genome.wustl.edu 37 1 145075832 145075832 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 145075832 145075832 G A SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known missense c.31 p.R11C 0.993 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 146 0 0 161 14 8 ACP6 0 genome.wustl.edu 37 1 147122094 147122094 + RNA SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 147122094 147122094 G A SNP ACP6 ENST00000460583 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACP6 HGNC ENSG00000162836 26 0 0 14 6 30 S100A9 0 genome.wustl.edu 37 1 153330873 153330873 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 153330873 153330873 A G SNP S100A9 ENST00000368738 human ensembl 74_37 +1 known silent c.114 p.K38 0.059 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100A9 HGNC ENSG00000163220 51 0 0 33 25 43.1034 CHRNB2 0 genome.wustl.edu 37 1 154543684 154543684 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 154543684 154543684 G A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.385 p.V129M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 166 0 0 121 62 33.8798 PKLR 0 genome.wustl.edu 37 1 155265023 155265023 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 155265023 155265023 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.578 p.T193M 0.976 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 271 0 0 254 117 31.5364 RUSC1-AS1 0 genome.wustl.edu 37 1 155290689 155290689 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 155290689 155290689 T C SNP RUSC1-AS1 ENST00000450199 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 44 0 0 38 21 35.5932 MEF2D 0 genome.wustl.edu 37 1 156437907 156437907 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 156437907 156437907 A G SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known missense c.1432 p.Y478H 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 96 0 0 79 29 26.8519 FCRL3 0 genome.wustl.edu 37 1 157648335 157648335 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 157648335 157648335 C T SNP FCRL3 ENST00000473231 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL3 HGNC ENSG00000160856 12 0 0 9 7 43.75 FCRL1 0 genome.wustl.edu 37 1 157771340 157771340 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 157771340 157771340 A C SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.914 p.L305R 0.055 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 84 0 0 58 40 40.8163 OR10X1 0 genome.wustl.edu 37 1 158549530 158549530 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 158549530 158549530 T C SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.160 p.T54A 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 104 0 0 67 30 30.9278 SPTA1 0 genome.wustl.edu 37 1 158607915 158607915 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 158607915 158607915 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5097 p.Q1699H 0.705 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 79 0 0 56 39 41.0526 OR6N1 0 genome.wustl.edu 37 1 158735638 158735638 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 158735638 158735638 A C SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.835 p.S279A 0.904 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 OR6N1 HGNC ENSG00000197403 186 0 0 159 101 38.8462 ATF6 0 genome.wustl.edu 37 1 161833061 161833061 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 161833061 161833061 C T SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known missense c.1678 p.R560C 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 138 0 0 78 49 38.5827 SPEN 0 genome.wustl.edu 37 1 16199321 16199321 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 16199321 16199321 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.94 p.V32M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 63 0 0 65 35 35 SPEN 0 genome.wustl.edu 37 1 16254696 16254696 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 16254696 16254696 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.1961 p.G654E 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 130 0 0 86 52 37.6812 DCAF6 0 genome.wustl.edu 37 1 167935952 167935952 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 167935952 167935952 G A SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.245 p.S82N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 67 0 0 75 4 5.06329 FMO2 0 genome.wustl.edu 37 1 171178190 171178190 + RNA SNP A A T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 171178190 171178190 A T SNP FMO2 ENST00000529935 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FMO2 HGNC ENSG00000094963 50 0 0 37 29 43.9394 DNM3 0 genome.wustl.edu 37 1 172222791 172222791 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 172222791 172222791 C T SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.1738 p.H580Y 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 14 0 0 9 3 25 FASLG 0 genome.wustl.edu 37 1 172628524 172628524 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 172628524 172628524 A G SNP FASLG ENST00000367721 human ensembl 74_37 +1 known silent c.183 p.P61 0.043 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 31 0 0 21 20 48.7805 DARS2 0 genome.wustl.edu 37 1 173822937 173822937 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 173822937 173822937 G A SNP DARS2 ENST00000361951 human ensembl 74_37 +1 known missense c.1568 p.R523H 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 80 0 0 70 31 30.6931 HMCN1 0 genome.wustl.edu 37 1 186114998 186114998 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 186114998 186114998 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14551 p.R4851S 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 65 0 0 88 10 10.2041 BRINP3 0 genome.wustl.edu 37 1 190067922 190067922 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 190067922 190067922 T G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1527 p.E509D 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 161 0 0 103 75 42.1348 CFHR3 0 genome.wustl.edu 37 1 196748981 196748981 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 196748981 196748981 A G SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.308 p.K103R 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 41 0 0 19 16 45.7143 NR5A2 0 genome.wustl.edu 37 1 200143338 200143338 + Nonstop_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 200143338 200143338 A C SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known nonstop c.1626 p.*542Y 0.035 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 33 0 0 38 16 29.6296 RNF186 0 genome.wustl.edu 37 1 20141050 20141050 + Missense_Mutation SNP A A T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 20141050 20141050 A T SNP RNF186 ENST00000375121 human ensembl 74_37 -1 known missense c.545 p.L182H 0.607 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF186 HGNC ENSG00000178828 115 0 0 86 44 33.8462 CR1 0 genome.wustl.edu 37 1 207679281 207679281 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 207679281 207679281 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.154 p.A52S 0.205 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 122 0 0 88 55 38.4615 ALPL 0 genome.wustl.edu 37 1 21900205 21900205 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 21900205 21900205 G A SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.910 p.V304M 0.050 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 51 0 0 40 18 31.0345 WNT4 0 genome.wustl.edu 37 1 22447972 22447972 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 22447972 22447972 G A SNP WNT4 ENST00000290167 human ensembl 74_37 -1 known silent c.411 p.G137 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4 - no_errors WNT4 HGNC ENSG00000162552 115 1 0.862069 100 65 39.3939 EPHA8 0 genome.wustl.edu 37 1 22920095 22920095 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 22920095 22920095 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.1519 p.R507C 0.588 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 20 0 0 27 7 20.5882 TAF5L 0 genome.wustl.edu 37 1 229738209 229738209 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 229738209 229738209 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known silent c.705 p.N235 0.130 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 131 0 0 137 10 6.80272 TOMM20 0 genome.wustl.edu 37 1 235292003 235292003 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 235292003 235292003 C T SNP TOMM20 ENST00000366607 human ensembl 74_37 -1 known missense c.28 p.A10T 1.000 pfam_MAS20_rcpt-related,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,tigrfam_MAS20_rcpt-related pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related - no_errors TOMM20 HGNC ENSG00000173726 242 0 0 206 103 33.3333 ACTN2 0 genome.wustl.edu 37 1 236849887 236849887 + RNA SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 236849887 236849887 G A SNP ACTN2 ENST00000492634 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACTN2 HGNC ENSG00000077522 14 0 0 13 13 50 MTR 0 genome.wustl.edu 37 1 236966834 236966834 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 236966834 236966834 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.141 p.N47 0.164 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 124 0 0 79 48 37.7953 RYR2 0 genome.wustl.edu 37 1 237947304 237947304 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 237947304 237947304 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12310 p.V4104I 0.984 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 40 0 0 27 22 44.898 HNRNPU 0 genome.wustl.edu 37 1 245017759 245017759 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 245017759 245017759 T C SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known missense c.2471 p.Y824C 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 66 0 0 39 42 51.8519 NIPAL3 0 genome.wustl.edu 37 1 24766677 24766677 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 24766677 24766677 G A SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known missense c.109 p.A37T 0.979 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 41 0 0 60 29 32.5843 OR11L1 0 genome.wustl.edu 37 1 248004739 248004739 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 248004739 248004739 T C SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.460 p.S154G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 151 0 0 134 91 40.4444 OR2M3 0 genome.wustl.edu 37 1 248366510 248366510 + Silent SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 248366510 248366510 C G SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known silent c.141 p.L47 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 389 0 0 316 157 33.1924 OR2T35 0 genome.wustl.edu 37 1 248801984 248801984 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 248801984 248801984 C T SNP OR2T35 ENST00000317450 human ensembl 74_37 -1 known silent c.576 p.T192 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T35 HGNC ENSG00000177151 16 0 0 12 11 47.8261 SH3BP5L 0 genome.wustl.edu 37 1 249107334 249107334 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 249107334 249107334 G T SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known silent c.565 p.R189 0.997 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 29 0 0 25 17 40.4762 SLC9A1 0 genome.wustl.edu 37 1 27432576 27432576 + Missense_Mutation SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 27432576 27432576 C G SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.1285 p.V429L 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 47 0 0 36 11 23.4043 SYTL1 0 genome.wustl.edu 37 1 27680310 27680310 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 27680310 27680310 A G SNP SYTL1 ENST00000543823 human ensembl 74_37 +1 known silent c.1656 p.L552 0.807 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL1 HGNC ENSG00000142765 72 0 0 71 32 31.068 DMAP1 0 genome.wustl.edu 37 1 44685093 44685093 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 44685093 44685093 G A SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.922 p.A308T 1.000 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 37 0 0 34 22 39.2857 USP24 0 genome.wustl.edu 37 1 55563749 55563749 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 55563749 55563749 C T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4982 p.R1661H 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 22 0 0 23 12 34.2857 TACSTD2 0 genome.wustl.edu 37 1 59042211 59042211 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 59042211 59042211 C T SNP TACSTD2 ENST00000371225 human ensembl 74_37 -1 known silent c.618 p.R206 0.008 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 25 0 0 21 13 38.2353 USP1 0 genome.wustl.edu 37 1 62913077 62913077 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 62913077 62913077 C T SNP USP1 ENST00000339950 human ensembl 74_37 +1 known missense c.1315 p.R439C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 61 0 0 49 27 35.5263 ACOT7 0 genome.wustl.edu 37 1 6409812 6409812 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 6409812 6409812 G A SNP ACOT7 ENST00000377855 human ensembl 74_37 -1 known silent c.288 p.N96 0.083 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 28 0 0 22 15 40.5405 SERBP1 0 genome.wustl.edu 37 1 67885620 67885620 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 67885620 67885620 T C SNP SERBP1 ENST00000484880 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SERBP1 HGNC ENSG00000142864 20 0 0 6 5 45.4545 LRRC7 0 genome.wustl.edu 37 1 70225942 70225942 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 70225942 70225942 G T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.55 p.G19C 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 47 0 0 43 13 23.2143 LRRC7 0 genome.wustl.edu 37 1 70446067 70446067 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 70446067 70446067 A C SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.603 p.E201D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 92 0 0 72 44 37.931 C1orf173 0 genome.wustl.edu 37 1 75037321 75037321 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 75037321 75037321 T C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4073 p.E1358G 0.241 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 149 1 0.666667 134 80 37.3832 ST6GALNAC3 0 genome.wustl.edu 37 1 76779497 76779497 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 76779497 76779497 C A SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known missense c.26 p.S9Y 0.990 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 58 0 0 39 21 35 SLC45A1 0 genome.wustl.edu 37 1 8384692 8384692 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 8384692 8384692 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.405 p.Y135 0.995 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 29 0 0 18 13 41.9355 SSX2IP 0 genome.wustl.edu 37 1 85130166 85130166 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 85130166 85130166 G A SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.607 p.R203C 1.000 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 57 0 0 42 24 36.3636 HPSE2 0 genome.wustl.edu 37 10 100904111 100904111 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 100904111 100904111 T C SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.494 p.K165R 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 89 0 0 66 40 37.7358 GOT1 0 genome.wustl.edu 37 10 101180555 101180555 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 101180555 101180555 G A SNP GOT1 ENST00000370508 human ensembl 74_37 -1 known silent c.126 p.R42 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1 HGNC ENSG00000120053 104 0 0 99 49 33.1081 FBXL15 0 genome.wustl.edu 37 10 104182697 104182697 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 104182697 104182697 G T SNP FBXL15 ENST00000224862 human ensembl 74_37 +1 known missense c.850 p.V284L 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL15 HGNC ENSG00000107872 22 0 0 19 11 36.6667 SORCS1 0 genome.wustl.edu 37 10 108469079 108469079 + Nonsense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 108469079 108469079 G A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known nonsense c.1045 p.R349* 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 54 0 0 22 23 51.1111 PNLIPRP3 0 genome.wustl.edu 37 10 118236283 118236283 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 118236283 118236283 A G SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1292 p.K431R 0.620 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 52 0 0 28 25 47.1698 EMX2 0 genome.wustl.edu 37 10 119307706 119307706 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 119307706 119307706 C T SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known missense c.722 p.A241V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 52 0 0 41 13 24.0741 TUBGCP2 0 genome.wustl.edu 37 10 135096606 135096606 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 135096606 135096606 G A SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.2349 p.C783 1.000 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 76 0 0 93 42 31.1111 PLXDC2 0 genome.wustl.edu 37 10 20290822 20290822 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 20290822 20290822 G A SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.231 p.T77 0.628 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 69 0 0 41 31 43.0556 KIAA1217 0 genome.wustl.edu 37 10 24832909 24832909 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 24832909 24832909 G T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.4710 p.K1570N 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 201 0 0 172 92 34.8485 MARCH8 0 genome.wustl.edu 37 10 45959762 45959762 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 45959762 45959762 G A SNP MARCH8 ENST00000319836 human ensembl 74_37 -1 known missense c.167 p.P56L 0.915 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH8 HGNC ENSG00000165406 109 0 0 98 59 37.5796 C10orf71 0 genome.wustl.edu 37 10 50532451 50532451 + Nonsense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 50532451 50532451 G T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known nonsense c.1861 p.G621* 0.001 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 39 0 0 22 14 38.8889 CSTF2T 0 genome.wustl.edu 37 10 53457958 53457958 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 53457958 53457958 C A SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.1352 p.R451M 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 164 0 0 120 51 29.8246 ANK3 0 genome.wustl.edu 37 10 61932125 61932125 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 61932125 61932125 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2419 p.G807S 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 79 0 0 52 34 39.5349 HK1 0 genome.wustl.edu 37 10 71139813 71139813 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 71139813 71139813 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known silent c.1332 p.T444 0.946 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 80 0 0 82 43 34.4 SFMBT2 0 genome.wustl.edu 37 10 7269899 7269899 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 7269899 7269899 C A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1121 p.G374V 1.000 pfam_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 48 0 0 40 26 39.3939 CAMK2G 0 genome.wustl.edu 37 10 75574931 75574931 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 75574931 75574931 C T SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.1609 p.A537T 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 82 0 0 51 27 34.6154 POLR3A 0 genome.wustl.edu 37 10 79789145 79789145 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 79789145 79789145 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known silent c.21 p.R7 0.992 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 96 0 0 67 32 32.3232 GHITM 0 genome.wustl.edu 37 10 85901266 85901266 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 85901266 85901266 G A SNP GHITM ENST00000372134 human ensembl 74_37 +1 known missense c.10 p.A4T 0.987 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 66 0 0 63 35 35.7143 LRIT1 0 genome.wustl.edu 37 10 85992427 85992427 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 85992427 85992427 G A SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known silent c.1128 p.N376 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 27 0 0 28 16 36.3636 CNTN5 0 genome.wustl.edu 37 11 100168355 100168355 + Splice_Site SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 100168355 100168355 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known splice_site c.2315-2 e17-2 1.000 - - - no_errors CNTN5 HGNC ENSG00000149972 21 0 0 9 8 47.0588 MMP3 0 genome.wustl.edu 37 11 102711277 102711277 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 102711277 102711277 C A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 80 0 0 85 42 33.0709 RAB39A 0 genome.wustl.edu 37 11 107832989 107832989 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 107832989 107832989 G A SNP RAB39A ENST00000320578 human ensembl 74_37 +1 known missense c.545 p.G182E 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39A HGNC ENSG00000179331 86 0 0 70 27 27.8351 SDHD 0 genome.wustl.edu 37 11 111965589 111965589 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 111965589 111965589 G T SNP SDHD ENST00000375549 human ensembl 74_37 +1 known missense c.375 p.K125N 0.994 pfam_CybS pfam_CybS - no_errors SDHD HGNC ENSG00000204370 59 0 0 40 32 44.4444 TTC12 0 genome.wustl.edu 37 11 113222930 113222930 + Splice_Site SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 113222930 113222930 G A SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known splice_site c.1446+1 e15+1 1.000 - - - no_errors TTC12 HGNC ENSG00000149292 78 0 0 66 34 34 NXPE4 0 genome.wustl.edu 37 11 114442059 114442059 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 114442059 114442059 C A SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.1236 p.E412D 0.071 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 168 0 0 148 60 28.8462 SIK3 0 genome.wustl.edu 37 11 116717249 116717249 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 116717249 116717249 C A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.3829 p.G1277C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 58 0 0 61 27 30.6818 ENSG00000254844 0 genome.wustl.edu 37 11 117691435 117691435 + RNA SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 117691435 117691435 A G SNP ENSG00000254844 ENST00000531850 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-728F11.3 Clone_based_vega_gene ENSG00000254844 70 0 0 54 42 43.75 KMT2A 0 genome.wustl.edu 37 11 118392022 118392022 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 118392022 118392022 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.11524 p.G3842S 1.000 pfam_SET_dom,smart_SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 106 0 0 80 47 37.0079 GRIK4 0 genome.wustl.edu 37 11 120837915 120837915 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 120837915 120837915 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.2278 p.R760W 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 60 0 0 49 24 32.8767 ABCC8 0 genome.wustl.edu 37 11 17417236 17417236 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 17417236 17417236 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.4231 p.A1411T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 10 0 0 4 5 55.5556 IGSF22 0 genome.wustl.edu 37 11 18736137 18736137 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 18736137 18736137 G A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.1566 p.D522 0.724 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 83 0 0 71 43 37.7193 IGF2-AS 0 genome.wustl.edu 37 11 2167646 2167646 + RNA SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 2167646 2167646 G A SNP IGF2-AS ENST00000381361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IGF2-AS HGNC ENSG00000099869 53 0 0 48 33 40.7407 OR5AP2 0 genome.wustl.edu 37 11 56409533 56409533 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 56409533 56409533 C T SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 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 OR5AP2 HGNC ENSG00000172464 78 0 0 28 38 57.5758 GANAB 0 genome.wustl.edu 37 11 62397125 62397125 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 62397125 62397125 C T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.1835 p.R612H 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 46 0 0 36 12 25 NXF1 0 genome.wustl.edu 37 11 62567923 62567923 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 62567923 62567923 C T SNP NXF1 ENST00000294172 human ensembl 74_37 -1 known silent c.942 p.G314 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 55 0 0 55 13 19.1176 KCNK4 0 genome.wustl.edu 37 11 64064727 64064727 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 64064727 64064727 C T SNP KCNK4 ENST00000538767 human ensembl 74_37 +1 putative missense c.251 p.S84L 0.976 NULL NULL - no_errors KCNK4 HGNC ENSG00000182450 88 0 0 61 40 39.604 C11orf85 0 genome.wustl.edu 37 11 64714903 64714903 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 64714903 64714903 A G SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known missense c.416 p.M139T 0.003 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 106 0 0 97 36 27.0677 GAL3ST3 0 genome.wustl.edu 37 11 65810630 65810630 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 65810630 65810630 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.644 p.R215H 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 110 0 0 90 52 36.6197 ANO1-AS1 0 genome.wustl.edu 37 11 70034186 70034186 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 70034186 70034186 C T SNP ANO1-AS1 ENST00000524987 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANO1-AS1 HGNC ENSG00000254902 13 0 0 1 2 66.6667 ARAP1 0 genome.wustl.edu 37 11 72410591 72410591 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 72410591 72410591 C A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.2309 p.S770I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 31 0 0 20 8 28.5714 CAPN5 0 genome.wustl.edu 37 11 76796090 76796090 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 76796090 76796090 G A SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.158 p.R53Q 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 45 0 0 26 25 49.0196 C11orf82 0 genome.wustl.edu 37 11 82643006 82643006 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 82643006 82643006 A G SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.626 p.H209R 0.306 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 116 1 0.854701 161 18 10.0559 FOLH1B 0 genome.wustl.edu 37 11 89431599 89431599 + RNA SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 89431599 89431599 C A SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 122 0 0 82 44 34.9206 FAM76B 0 genome.wustl.edu 37 11 95520842 95520842 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 95520842 95520842 G A SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known silent c.153 p.S51 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 18 0 0 8 6 42.8571 GCN1L1 0 genome.wustl.edu 37 12 120612992 120612992 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 120612992 120612992 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.1066 p.V356I 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 77 0 0 60 31 34.0659 DNAH10 0 genome.wustl.edu 37 12 124399436 124399436 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 124399436 124399436 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.10258 p.V3420I 0.944 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 36 0 0 30 13 30.2326 SOX5 0 genome.wustl.edu 37 12 23689453 23689453 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 23689453 23689453 C T SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1922 p.R641H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 57 0 0 51 39 43.3333 EFCAB4B 0 genome.wustl.edu 37 12 3806150 3806150 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 3806150 3806150 C T SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.16 p.G6R 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 23 0 0 33 19 36.5385 KDM5A 0 genome.wustl.edu 37 12 438150 438150 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 438150 438150 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.1819 p.R607C 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 70 0 0 56 20 26.3158 C12orf5 0 genome.wustl.edu 37 12 4460533 4460533 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 4460533 4460533 C T SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known missense c.371 p.T124M 0.996 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 66 0 0 60 28 31.8182 KCNA5 0 genome.wustl.edu 37 12 5154292 5154292 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 5154292 5154292 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.979 p.V327M 0.785 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 143 0 0 133 67 33.5 SOAT2 0 genome.wustl.edu 37 12 53499020 53499020 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 53499020 53499020 T C SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known silent c.268 p.L90 0.000 NULL pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 22 0 0 5 9 64.2857 NCKAP1L 0 genome.wustl.edu 37 12 54910752 54910752 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 54910752 54910752 T C SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.1071 p.D357 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 75 0 0 71 42 37.1681 OR6C75 0 genome.wustl.edu 37 12 55759657 55759657 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 55759657 55759657 T G SNP OR6C75 ENST00000343399 human ensembl 74_37 +1 known missense c.763 p.F255V 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 76 0 0 40 23 36.5079 METTL7B 0 genome.wustl.edu 37 12 56075989 56075989 + Nonsense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 56075989 56075989 C T SNP METTL7B ENST00000394252 human ensembl 74_37 +1 known nonsense c.451 p.Q151* 0.632 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors METTL7B HGNC ENSG00000170439 49 0 0 54 33 37.931 LRP1 0 genome.wustl.edu 37 12 57574523 57574523 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 57574523 57574523 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.5460 p.S1820 0.760 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 136 0 0 105 51 32.6923 INHBC 0 genome.wustl.edu 37 12 57843601 57843601 + Silent SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 57843601 57843601 A C SNP INHBC ENST00000309668 human ensembl 74_37 +1 known silent c.855 p.A285 0.801 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 61 0 0 59 35 37.234 YEATS4 0 genome.wustl.edu 37 12 69753780 69753780 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 69753780 69753780 C T SNP YEATS4 ENST00000247843 human ensembl 74_37 +1 known missense c.28 p.P10S 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS4 HGNC ENSG00000127337 62 0 0 63 31 32.9787 OSBPL8 0 genome.wustl.edu 37 12 76784264 76784264 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 76784264 76784264 G T SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.1103 p.P368H 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 78 0 0 73 24 24.7423 CLEC4D 0 genome.wustl.edu 37 12 8670815 8670815 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 8670815 8670815 G T SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known missense c.177 p.E59D 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 30 0 0 18 5 21.7391 SLC7A1 0 genome.wustl.edu 37 13 30096482 30096482 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 30096482 30096482 G A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known silent c.1161 p.I387 0.707 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 268 0 0 208 98 32.0261 PDS5B 0 genome.wustl.edu 37 13 33275470 33275470 + Missense_Mutation SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 33275470 33275470 C G SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.1751 p.T584S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 37 0 0 45 19 29.6875 MAB21L1 0 genome.wustl.edu 37 13 36049807 36049807 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 36049807 36049807 C T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.469 p.E157K 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 55 0 0 52 38 42.2222 WDFY2 0 genome.wustl.edu 37 13 52277737 52277737 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 52277737 52277737 T C SNP WDFY2 ENST00000298125 human ensembl 74_37 +1 known silent c.285 p.F95 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 25 0 0 9 8 47.0588 ATP7B 0 genome.wustl.edu 37 13 52539057 52539057 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 52539057 52539057 T G SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.1820 p.K607T 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 86 0 0 70 45 39.1304 PCDH8 0 genome.wustl.edu 37 13 53422475 53422475 + Nonsense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 53422475 53422475 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known nonsense c.97 p.R33* 0.601 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 140 0 0 130 66 33.6735 GPC5 0 genome.wustl.edu 37 13 92051456 92051456 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 92051456 92051456 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.156 p.P52 0.981 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 31 0 0 29 14 32.5581 ABCC4 0 genome.wustl.edu 37 13 95723915 95723915 + Splice_Site SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 95723915 95723915 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known splice_site c.3210+1 e25+1 1.000 - - - no_errors ABCC4 HGNC ENSG00000125257 99 0 0 84 21 20 MBNL2 0 genome.wustl.edu 37 13 97995278 97995278 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 97995278 97995278 C T SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known silent c.348 p.F116 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 68 0 0 41 21 33.871 DOCK9 0 genome.wustl.edu 37 13 99554673 99554673 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 99554673 99554673 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.1252 p.V418I 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 62 0 0 53 28 34.5679 HSP90AA1 0 genome.wustl.edu 37 14 102551151 102551151 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 102551151 102551151 T G SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.1214 p.K405T 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 51 0 0 26 20 43.4783 KIF26A 0 genome.wustl.edu 37 14 104639558 104639558 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 104639558 104639558 C A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1665 p.D555E 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 61 0 0 54 25 31.6456 CEP170B 0 genome.wustl.edu 37 14 105346656 105346656 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 105346656 105346656 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.366 p.S122 0.005 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 25 0 0 24 12 33.3333 AHNAK2 0 genome.wustl.edu 37 14 105419697 105419697 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 105419697 105419697 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.2091 p.S697 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 307 0 0 234 154 39.6907 GPR132 0 genome.wustl.edu 37 14 105517684 105517684 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 105517684 105517684 C T SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known missense c.790 p.V264I 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 94 0 0 146 11 7.00637 JPH4 0 genome.wustl.edu 37 14 24040545 24040545 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 24040545 24040545 G T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known silent c.1395 p.A465 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 95 0 0 58 47 44.7619 PCK2 0 genome.wustl.edu 37 14 24572425 24572425 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 24572425 24572425 G A SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.1429 p.A477T 0.925 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 42 0 0 29 17 36.9565 REC8 0 genome.wustl.edu 37 14 24646359 24646359 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 24646359 24646359 G A SNP REC8 ENST00000311457 human ensembl 74_37 +1 known missense c.634 p.E212K 0.963 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 86 0 0 61 34 35.7895 LOC100506446 0 genome.wustl.edu 37 14 50394457 50394457 + RNA SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 50394457 50394457 T A SNP LOC100506446 ENST00000556434 human ensembl 74_37 -1 known rna NULL NULL 0.697 - - - no_errors RP11-58E21.4 Clone_based_vega_gene ENSG00000258946 10 0 0 4 7 63.6364 FRMD6 0 genome.wustl.edu 37 14 52174877 52174877 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 52174877 52174877 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.640 p.E214K 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 65 0 0 44 34 43.5897 RTN1 0 genome.wustl.edu 37 14 60337173 60337173 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 60337173 60337173 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.176 p.A59V 0.002 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 11 0 0 13 5 27.7778 HSPA2 0 genome.wustl.edu 37 14 65009232 65009232 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 65009232 65009232 G T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.1665 p.T555 0.844 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 147 0 0 170 46 21.2963 ADCK1 0 genome.wustl.edu 37 14 78325429 78325429 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 78325429 78325429 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.230 p.R77H 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 199 0 0 153 84 35.443 DNM1P47 0 genome.wustl.edu 37 15 102300094 102300094 + RNA SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 102300094 102300094 G T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 13 0 0 15 5 25 OR4F6 0 genome.wustl.edu 37 15 102346035 102346035 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 102346035 102346035 G A SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known missense c.113 p.S38N 0.722 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 244 0 0 214 112 34.3558 APBA2 0 genome.wustl.edu 37 15 29406136 29406136 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 29406136 29406136 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.2095 p.R699C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 122 0 0 66 43 39.4495 ANP32AP1 0 genome.wustl.edu 37 15 35529998 35529998 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 35529998 35529998 T C SNP ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors ANP32AP1 HGNC ENSG00000259516 33 0 0 27 17 38.6364 EIF2AK4 0 genome.wustl.edu 37 15 40259735 40259735 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 40259735 40259735 G A SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.1208 p.R403H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 66 0 0 65 42 39.2523 MGA 0 genome.wustl.edu 37 15 41961969 41961969 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 41961969 41961969 C A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.877 p.R293S 0.026 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 29 0 0 21 9 30 ZNF106 0 genome.wustl.edu 37 15 42749156 42749156 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 42749156 42749156 C A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.248 p.R83L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 17 0 0 30 2 6.25 MAP1A 0 genome.wustl.edu 37 15 43815307 43815307 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 43815307 43815307 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.1636 p.L546 0.695 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 166 0 0 133 73 35.4369 UNC13C 0 genome.wustl.edu 37 15 54307469 54307469 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 54307469 54307469 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2369 p.K790T 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 56 0 0 20 22 52.381 UNC13C 0 genome.wustl.edu 37 15 54529879 54529879 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 54529879 54529879 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.3219 p.N1073 0.997 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 19 0 0 16 3 15.7895 RORA 0 genome.wustl.edu 37 15 61521385 61521385 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 61521385 61521385 G A SNP RORA ENST00000335670 human ensembl 74_37 -1 known silent c.33 p.A11 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 8 0 0 7 3 30 BBS4 0 genome.wustl.edu 37 15 73023682 73023682 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 73023682 73023682 G A SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known missense c.772 p.G258R 0.999 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 107 0 0 77 44 36.3636 C15orf27 0 genome.wustl.edu 37 15 76484307 76484307 + Splice_Site SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 76484307 76484307 A C SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known splice_site c.769-2 e8-2 1.000 - - - no_errors C15orf27 HGNC ENSG00000169758 31 0 0 28 11 28.2051 PEAK1 0 genome.wustl.edu 37 15 77407583 77407583 + Missense_Mutation SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 77407583 77407583 T A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4156 p.N1386Y 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 69 0 0 68 40 37.037 PEAK1 0 genome.wustl.edu 37 15 77407588 77407588 + Missense_Mutation SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 77407588 77407588 T A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4151 p.H1384L 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 71 0 0 68 40 37.037 PSMA4 0 genome.wustl.edu 37 15 78834913 78834913 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 78834913 78834913 T C SNP PSMA4 ENST00000044462 human ensembl 74_37 +1 known silent c.135 p.L45 0.999 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA4 HGNC ENSG00000041357 137 0 0 116 83 41.7085 KIAA1024 0 genome.wustl.edu 37 15 79750766 79750766 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 79750766 79750766 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known silent c.2277 p.D759 1.000 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 100 0 0 81 34 29.5652 AP3B2 0 genome.wustl.edu 37 15 83349359 83349359 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 83349359 83349359 C T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.920 p.R307H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 35 0 0 26 15 36.5854 IGF1R 0 genome.wustl.edu 37 15 99467876 99467876 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 99467876 99467876 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.2745 p.S915 0.054 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 98 0 0 70 41 36.9369 CACNA1H 0 genome.wustl.edu 37 16 1248668 1248668 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 1248668 1248668 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.697 p.V233I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 135 0 0 141 12 7.84314 CACNA1H 0 genome.wustl.edu 37 16 1252244 1252244 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 1252244 1252244 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.1794 p.A598 0.026 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 10 0 0 15 9 37.5 PARN 0 genome.wustl.edu 37 16 14530594 14530594 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 14530594 14530594 C T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.1900 p.E634K 1.000 NULL pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 13 0 0 16 6 27.2727 NOMO3 0 genome.wustl.edu 37 16 16357002 16357002 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 16357002 16357002 C T SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known silent c.1467 p.T489 0.008 superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 300 0 0 208 113 35.2025 MAPK8IP3 0 genome.wustl.edu 37 16 1814167 1814167 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 1814167 1814167 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.2074 p.P692S 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 49 0 0 44 15 25.4237 DNAH3 0 genome.wustl.edu 37 16 20996456 20996456 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 20996456 20996456 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.7608 p.T2536 0.261 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 49 0 0 47 15 24.1935 PKD1 0 genome.wustl.edu 37 16 2156158 2156158 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 2156158 2156158 T C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.7637 p.H2546R 0.001 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 30 0 0 30 18 37.5 SULT1A1 0 genome.wustl.edu 37 16 28620030 28620030 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 28620030 28620030 G A SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known silent c.147 p.S49 0.991 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 202 0 0 226 64 22.069 SNX29P2 0 genome.wustl.edu 37 16 29415176 29415176 + RNA SNP A A T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 29415176 29415176 A T SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNX29P2 HGNC ENSG00000198106 9 0 0 12 8 40 MVP 0 genome.wustl.edu 37 16 29857217 29857217 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 29857217 29857217 C T SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.2055 p.R685 0.109 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 51 0 0 36 33 47.8261 DNAJA3 0 genome.wustl.edu 37 16 4492271 4492271 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 4492271 4492271 C T SNP DNAJA3 ENST00000576911 human ensembl 74_37 +1 known missense c.284 p.T95I 1.000 NULL NULL - no_errors DNAJA3 HGNC ENSG00000103423 117 0 0 91 51 35.9155 NLRC5 0 genome.wustl.edu 37 16 57057705 57057705 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 57057705 57057705 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.364 p.R122C 0.867 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 27 0 0 5 5 50 NOL3 0 genome.wustl.edu 37 16 67208556 67208556 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 67208556 67208556 C A SNP NOL3 ENST00000268605 human ensembl 74_37 +1 known missense c.328 p.P110T 0.103 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC ENSG00000140939 43 0 0 21 14 40 CNTNAP4 0 genome.wustl.edu 37 16 76483708 76483708 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 76483708 76483708 G T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1021 p.D341Y 1.000 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 8 0 0 5 6 54.5455 METTL22 0 genome.wustl.edu 37 16 8722866 8722866 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 8722866 8722866 G T SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.413 p.G138V 0.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 312 0 0 387 46 10.6236 CBFA2T3 0 genome.wustl.edu 37 16 88951490 88951490 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 88951490 88951490 C T SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.1081 p.D361N 0.994 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 70 0 0 55 30 35.2941 MYH8 0 genome.wustl.edu 37 17 10317533 10317533 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 10317533 10317533 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.984 p.D328 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 250 0 0 209 113 35.0932 DNAH9 0 genome.wustl.edu 37 17 11872784 11872784 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 11872784 11872784 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.13401 p.K4467 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 59 0 0 34 16 32 SMCR8 0 genome.wustl.edu 37 17 18220238 18220238 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 18220238 18220238 G A SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.1135 p.D379N 0.040 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 124 0 0 85 55 39.2857 RNF112 0 genome.wustl.edu 37 17 19318461 19318461 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 19318461 19318461 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.1237 p.A413T 0.009 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 69 0 0 50 48 48.9796 LRRC37B 0 genome.wustl.edu 37 17 30376229 30376229 + Nonsense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 30376229 30376229 C A SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known nonsense c.2492 p.S831* 0.739 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 136 0 0 30 45 60 MYO1D 0 genome.wustl.edu 37 17 31039133 31039133 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 31039133 31039133 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1994 p.R665Q 0.005 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 227 0 0 173 79 31.3492 SLFN5 0 genome.wustl.edu 37 17 33586177 33586177 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 33586177 33586177 G T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.468 p.Q156H 0.001 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 122 0 0 100 56 35.8974 STARD3 0 genome.wustl.edu 37 17 37817248 37817248 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 37817248 37817248 T C SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known missense c.1049 p.V350A 0.992 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 112 0 0 90 39 30.2326 FKBP10 0 genome.wustl.edu 37 17 39978604 39978604 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 39978604 39978604 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.1693 p.D565N 0.311 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 31 0 0 20 17 45.9459 TTC25 0 genome.wustl.edu 37 17 40087077 40087077 + RNA SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 40087077 40087077 A G SNP TTC25 ENST00000377540 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors TTC25 HGNC ENSG00000204815 11 0 0 9 5 35.7143 STAT5A 0 genome.wustl.edu 37 17 40441453 40441453 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 40441453 40441453 G T SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.24 p.Q8H 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 51 0 0 44 7 13.7255 NAGLU 0 genome.wustl.edu 37 17 40693036 40693036 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 40693036 40693036 C T SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.833 p.S278F 1.000 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 184 1 0.540541 151 80 34.632 GRN 0 genome.wustl.edu 37 17 42430079 42430079 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 42430079 42430079 C T SNP GRN ENST00000053867 human ensembl 74_37 +1 known silent c.1695 p.C565 0.002 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 102 0 0 99 54 35.2941 SPATA32 0 genome.wustl.edu 37 17 43333097 43333097 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 43333097 43333097 G A SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.452 p.A151V 0.151 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 104 0 0 91 60 39.7351 SPPL2C 0 genome.wustl.edu 37 17 43922586 43922586 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 43922586 43922586 C T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.314 p.T105M 0.719 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 84 0 0 60 27 31.0345 WNT9B 0 genome.wustl.edu 37 17 44949949 44949949 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 44949949 44949949 C T SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known silent c.144 p.G48 0.075 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 112 0 0 102 74 42.0455 HOXB3 0 genome.wustl.edu 37 17 46629614 46629614 + Silent SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 46629614 46629614 T G SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.223 p.R75 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 112 0 0 130 12 8.4507 SPATA20 0 genome.wustl.edu 37 17 48628247 48628247 + Missense_Mutation SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 48628247 48628247 T A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1352 p.L451H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 127 0 0 130 62 32.2917 GDPD1 0 genome.wustl.edu 37 17 57344479 57344479 + Silent SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 57344479 57344479 C A SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known silent c.654 p.P218 0.751 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 72 0 0 60 29 32.5843 USH1G 0 genome.wustl.edu 37 17 72916026 72916026 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 72916026 72916026 C T SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.905 p.G302D 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 137 0 0 139 62 30.8458 ZBTB4 0 genome.wustl.edu 37 17 7365532 7365532 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 7365532 7365532 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.2769 p.P923 0.047 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 293 1 0.340136 298 104 25.8706 NARF 0 genome.wustl.edu 37 17 80430462 80430462 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 80430462 80430462 G A SNP NARF ENST00000309794 human ensembl 74_37 +1 known silent c.408 p.T136 0.031 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 64 0 0 69 23 25 ARHGEF15 0 genome.wustl.edu 37 17 8222199 8222199 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 8222199 8222199 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known silent c.2004 p.S668 0.981 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 432 0 0 302 190 38.6179 RPH3AL 0 genome.wustl.edu 37 17 96929 96929 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 96929 96929 G A SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known missense c.586 p.R196C 0.895 NULL pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 130 0 0 161 14 8 CXADRP3 0 genome.wustl.edu 37 18 14478737 14478737 + RNA SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 14478737 14478737 T G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CXADRP3 HGNC ENSG00000265766 20 0 0 28 9 24.3243 ROCK1 0 genome.wustl.edu 37 18 18586553 18586553 + Missense_Mutation SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 18586553 18586553 T A SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.1644 p.E548D 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 65 0 0 80 29 26.6055 MYO5B 0 genome.wustl.edu 37 18 47432990 47432990 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 47432990 47432990 T C SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.2213 p.K738R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 72 0 0 85 22 20.5607 EPB41L3 0 genome.wustl.edu 37 18 5416287 5416287 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 5416287 5416287 T C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1597 p.K533E 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 84 0 0 100 38 27.5362 LAMA1 0 genome.wustl.edu 37 18 7040146 7040146 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 7040146 7040146 A C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1351 p.C451G 0.998 smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 79 0 0 96 20 17.2414 ZNF516 0 genome.wustl.edu 37 18 74083441 74083441 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 74083441 74083441 G T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known silent c.3345 p.A1115 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 25 0 0 55 5 8.33333 ADNP2 0 genome.wustl.edu 37 18 77894218 77894218 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 77894218 77894218 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.922 p.P308S 0.004 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 145 0 0 190 81 29.8893 ICAM3 0 genome.wustl.edu 37 19 10446426 10446426 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 10446426 10446426 G A SNP ICAM3 ENST00000160262 human ensembl 74_37 -1 known silent c.570 p.C190 0.426 pfscan_Ig-like_dom pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 27 0 0 8 3 27.2727 ECSIT 0 genome.wustl.edu 37 19 11618674 11618674 + Missense_Mutation SNP G G C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 11618674 11618674 G C SNP ECSIT ENST00000592312 human ensembl 74_37 -1 putative missense c.580 p.P194A 0.734 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 68 0 0 36 29 44.6154 ZNF833P 0 genome.wustl.edu 37 19 11759225 11759225 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 11759225 11759225 C T SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 0.272 - - - no_errors ZNF833P HGNC ENSG00000197332 89 0 0 59 45 43.2692 ZNF878 0 genome.wustl.edu 37 19 12155555 12155555 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 12155555 12155555 G A SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.802 p.H268Y 0.960 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 ZNF878 HGNC ENSG00000257446 142 0 0 90 50 35.7143 MAN2B1 0 genome.wustl.edu 37 19 12766648 12766648 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 12766648 12766648 G T SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.1690 p.L564M 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 127 0 0 105 60 36.3636 ASNA1 0 genome.wustl.edu 37 19 12858229 12858229 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 12858229 12858229 C T SNP ASNA1 ENST00000357332 human ensembl 74_37 +1 known silent c.738 p.C246 0.883 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 - no_errors ASNA1 HGNC ENSG00000198356 71 0 0 56 19 25.3333 RTBDN 0 genome.wustl.edu 37 19 12936719 12936719 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 12936719 12936719 C T SNP RTBDN ENST00000322912 human ensembl 74_37 -1 known missense c.587 p.R196H 0.484 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 44 0 0 28 26 48.1481 ZSWIM4 0 genome.wustl.edu 37 19 13941297 13941297 + Silent SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 13941297 13941297 C G SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known silent c.2403 p.G801 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 176 0 0 175 66 27.3859 BRD4 0 genome.wustl.edu 37 19 15364459 15364459 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 15364459 15364459 C T SNP BRD4 ENST00000360016 human ensembl 74_37 -1 known missense c.2294 p.R765H 0.007 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 37 0 0 30 26 46.4286 AP1M1 0 genome.wustl.edu 37 19 16344328 16344328 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 16344328 16344328 G A SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.1108 p.A370T 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 24 0 0 31 2 6.06061 KCNN1 0 genome.wustl.edu 37 19 18085055 18085055 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 18085055 18085055 G A SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known missense c.358 p.V120I 0.997 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 41 0 0 36 24 40 ZNF737 0 genome.wustl.edu 37 19 20728628 20728628 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 20728628 20728628 T G SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.381 p.K127N 0.858 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 ZNF737 HGNC ENSG00000237440 88 0 0 44 30 40.5405 ZNF208 0 genome.wustl.edu 37 19 22156265 22156265 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 22156265 22156265 G A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1571 p.P524L 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 74 0 0 60 21 25.9259 ZNF257 0 genome.wustl.edu 37 19 22256357 22256357 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 22256357 22256357 A G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.217 p.K73E 0.020 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 ZNF257 HGNC ENSG00000197134 170 0 0 128 76 37.2549 ZNF676 0 genome.wustl.edu 37 19 22363534 22363534 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 22363534 22363534 T C SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.985 p.R329G 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 109 0 0 110 17 13.3858 LOC440518 0 genome.wustl.edu 37 19 22785186 22785186 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 22785186 22785186 C T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 16 0 0 13 4 23.5294 ZNF99 0 genome.wustl.edu 37 19 22952753 22952753 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 22952753 22952753 A C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.32 p.L11R 0.002 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 ZNF99 HGNC ENSG00000213973 54 0 0 32 12 27.2727 ZNF730 0 genome.wustl.edu 37 19 23329342 23329342 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 23329342 23329342 A C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1496 p.K499T 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 11 0 0 16 7 30.4348 LOC100132815 0 genome.wustl.edu 37 19 23438028 23438028 + RNA SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 23438028 23438028 G T SNP LOC100132815 ENST00000593576 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-15H20.5 Clone_based_vega_gene ENSG00000269837 24 0 0 14 4 22.2222 ZNF681 0 genome.wustl.edu 37 19 23926764 23926764 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 23926764 23926764 C T SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1588 p.G530R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 77 0 0 39 23 37.0968 ENSG00000233836 0 genome.wustl.edu 37 19 24014696 24014696 + RNA SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 24014696 24014696 A C SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 26 0 0 7 8 53.3333 ZNF726 0 genome.wustl.edu 37 19 24118073 24118073 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 24118073 24118073 A C SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.2014 p.I672L 0.989 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 ZNF726 HGNC ENSG00000213967 13 0 0 7 3 30 GADD45B 0 genome.wustl.edu 37 19 2477069 2477069 + Missense_Mutation SNP G G C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 2477069 2477069 G C SNP GADD45B ENST00000215631 human ensembl 74_37 +1 known missense c.189 p.E63D 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC ENSG00000099860 64 0 0 54 25 31.6456 AES 0 genome.wustl.edu 37 19 3053823 3053823 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 3053823 3053823 C T SNP AES ENST00000221561 human ensembl 74_37 -1 known silent c.789 p.S263 0.631 NULL pfam_Groucho/TLE_N - no_errors AES HGNC ENSG00000104964 33 0 0 32 25 43.8596 CCDC97 0 genome.wustl.edu 37 19 41822657 41822657 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 41822657 41822657 G T SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.415 p.V139L 1.000 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 68 0 0 20 27 57.4468 RABAC1 0 genome.wustl.edu 37 19 42462919 42462919 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 42462919 42462919 A G SNP RABAC1 ENST00000222008 human ensembl 74_37 -1 known missense c.238 p.F80L 1.000 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors RABAC1 HGNC ENSG00000105404 64 0 0 20 18 47.3684 C5AR2 0 genome.wustl.edu 37 19 47844955 47844955 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 47844955 47844955 G A SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.899 p.R300H 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 103 0 0 103 70 40.4624 LIG1 0 genome.wustl.edu 37 19 48638989 48638989 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 48638989 48638989 C T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.1471 p.A491T 1.000 superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 281 0 0 208 116 35.8025 TRPM4 0 genome.wustl.edu 37 19 49686010 49686010 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 49686010 49686010 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.1439 p.A480V 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 83 0 0 57 31 35.2273 RRAS 0 genome.wustl.edu 37 19 50138860 50138860 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 50138860 50138860 G A SNP RRAS ENST00000246792 human ensembl 74_37 -1 known silent c.630 p.G210 0.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS HGNC ENSG00000126458 122 0 0 99 58 36.9427 KLK12 0 genome.wustl.edu 37 19 51537807 51537807 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 51537807 51537807 A G SNP KLK12 ENST00000526824 human ensembl 74_37 -1 known missense c.71 p.L24P 0.000 NULL NULL - no_errors KLK12 HGNC ENSG00000186474 18 0 0 19 9 32.1429 ZNF610 0 genome.wustl.edu 37 19 52856992 52856992 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 52856992 52856992 C A SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.121 p.L41M 0.851 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 ZNF610 HGNC ENSG00000167554 141 0 0 111 49 30.625 MIR518B 0 genome.wustl.edu 37 19 54206031 54206031 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 54206031 54206031 T C SNP MIR518B ENST00000385127 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors MIR518B HGNC ENSG00000207862 53 0 0 38 21 35.5932 LILRA4 0 genome.wustl.edu 37 19 54849824 54849824 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 54849824 54849824 T C SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.198 p.S66 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 174 0 0 114 66 36.6667 LILRA2 0 genome.wustl.edu 37 19 55086848 55086848 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 55086848 55086848 C T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.781 p.R261C 0.009 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 131 0 0 111 63 36.2069 NLRP7 0 genome.wustl.edu 37 19 55451015 55451015 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 55451015 55451015 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1256 p.T419M 0.965 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 49 0 0 30 17 36.1702 ENSG00000269275 0 genome.wustl.edu 37 19 55889305 55889305 + RNA SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 55889305 55889305 C A SNP ENSG00000269275 ENST00000595064 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2105E13.15 Clone_based_vega_gene ENSG00000269275 74 0 0 51 32 38.5542 ZNF784 0 genome.wustl.edu 37 19 56133410 56133410 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 56133410 56133410 C T SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known missense c.679 p.G227S 0.714 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 27 0 0 15 6 28.5714 ZNF667 0 genome.wustl.edu 37 19 56981329 56981329 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 56981329 56981329 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.96 p.E32D 0.005 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 ZNF667 HGNC ENSG00000198046 11 0 0 6 2 25 PEG3 0 genome.wustl.edu 37 19 57326838 57326838 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 57326838 57326838 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2972 p.H991R 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 79 0 0 142 37 20.6704 DUS3L 0 genome.wustl.edu 37 19 5789651 5789651 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 5789651 5789651 G A SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.467 p.A156V 0.011 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 18 0 0 17 5 22.7273 ZNF587 0 genome.wustl.edu 37 19 58370281 58370281 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 58370281 58370281 G T SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known missense c.501 p.Q167H 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 ZNF587 HGNC ENSG00000198466 64 0 0 133 34 20.3593 ZBTB45 0 genome.wustl.edu 37 19 59028678 59028678 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 59028678 59028678 A G SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known silent c.363 p.I121 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 60 0 0 115 28 19.5804 XAB2 0 genome.wustl.edu 37 19 7691040 7691040 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 7691040 7691040 G T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.639 p.A213 0.478 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 178 0 0 133 85 38.9908 LPPR3 0 genome.wustl.edu 37 19 812972 812972 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 812972 812972 C T SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known silent c.1839 p.A613 0.724 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 26 0 0 12 6 33.3333 MUC16 0 genome.wustl.edu 37 19 9085983 9085983 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 9085983 9085983 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.5832 p.E1944 0.725 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 55 0 0 42 26 38.2353 ST6GAL2 0 genome.wustl.edu 37 2 107460225 107460225 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 107460225 107460225 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.209 p.P70L 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 54 0 0 53 31 36.9048 RANBP2 0 genome.wustl.edu 37 2 109388223 109388223 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 109388223 109388223 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.7916 p.T2639I 0.267 pfam_IR1-M pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 239 0 0 186 87 31.8681 TMEM177 0 genome.wustl.edu 37 2 120439107 120439107 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 120439107 120439107 C T SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known silent c.678 p.A226 0.994 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 97 0 0 81 45 35.7143 CNTNAP5 0 genome.wustl.edu 37 2 125262112 125262112 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 125262112 125262112 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1303 p.R435C 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 47 0 0 59 17 22.3684 AMER3 0 genome.wustl.edu 37 2 131522032 131522032 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 131522032 131522032 G A SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.2387 p.R796H 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 18 0 0 8 6 42.8571 LRP1B 0 genome.wustl.edu 37 2 141283810 141283810 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 141283810 141283810 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7872 p.N2624K 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 45 0 0 27 18 40 LRP1B 0 genome.wustl.edu 37 2 141751623 141751623 + Nonsense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 141751623 141751623 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.2585 p.W862* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 87 0 0 61 24 28.2353 GTDC1 0 genome.wustl.edu 37 2 144764988 144764988 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 144764988 144764988 C A SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.636 p.E212D 0.002 NULL pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 59 0 0 57 18 24 PXDN 0 genome.wustl.edu 37 2 1652415 1652415 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 1652415 1652415 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3137 p.T1046M 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 26 0 0 26 9 25.7143 CHRNA1 0 genome.wustl.edu 37 2 175613394 175613394 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 175613394 175613394 G A SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known silent c.1231 p.L411 0.807 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 104 0 0 101 41 28.8732 HOXD13 0 genome.wustl.edu 37 2 176958221 176958221 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 176958221 176958221 G A SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative silent c.603 p.Q201 1.000 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 135 0 0 101 61 37.6543 TTN 0 genome.wustl.edu 37 2 179587840 179587840 + Silent SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 179587840 179587840 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.18162 p.G6054 0.572 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 44 0 0 36 8 18.1818 FSIP2 0 genome.wustl.edu 37 2 186670735 186670735 + Silent SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 186670735 186670735 A C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.16969 p.R5657 0.001 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 67 0 0 39 26 40 INPP1 0 genome.wustl.edu 37 2 191227411 191227411 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 191227411 191227411 G T SNP INPP1 ENST00000322522 human ensembl 74_37 +1 known missense c.263 p.W88L 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 42 0 0 41 14 25.4545 HECW2 0 genome.wustl.edu 37 2 197172768 197172768 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 197172768 197172768 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.2476 p.V826M 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 37 0 0 49 8 14.0351 ALS2 0 genome.wustl.edu 37 2 202626159 202626159 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 202626159 202626159 G T SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known silent c.558 p.A186 0.998 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 112 0 0 78 36 31.5789 CPS1 0 genome.wustl.edu 37 2 211521259 211521259 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 211521259 211521259 A G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3587 p.H1196R 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 57 0 0 46 31 40.2597 IGFBP5 0 genome.wustl.edu 37 2 217543602 217543602 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 217543602 217543602 C T SNP IGFBP5 ENST00000233813 human ensembl 74_37 -1 known missense c.538 p.A180T 0.001 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 42 0 0 50 33 39.759 SLC11A1 0 genome.wustl.edu 37 2 219247695 219247695 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 219247695 219247695 C A SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.20 p.P7H 0.064 NULL pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 113 0 0 101 47 31.7568 CCDC108 0 genome.wustl.edu 37 2 219892362 219892362 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 219892362 219892362 G A SNP CCDC108 ENST00000409865 human ensembl 74_37 -1 putative missense c.2188 p.R730C 0.000 NULL superfamily_PapD-like - no_errors CCDC108 HGNC ENSG00000181378 166 0 0 229 19 7.66129 IRS1 0 genome.wustl.edu 37 2 227662442 227662442 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 227662442 227662442 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.1013 p.R338H 0.996 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 151 0 0 165 90 35.2941 SLC19A3 0 genome.wustl.edu 37 2 228552892 228552892 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 228552892 228552892 A G SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.1304 p.V435A 0.684 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 91 0 0 73 40 35.3982 SLC19A3 0 genome.wustl.edu 37 2 228563510 228563510 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 228563510 228563510 C T SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known silent c.921 p.A307 0.991 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 112 0 0 64 39 37.8641 KIF1A 0 genome.wustl.edu 37 2 241659198 241659198 + Nonsense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 241659198 241659198 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known nonsense c.5014 p.R1672* 0.984 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 29 0 0 22 15 40.5405 GPN1 0 genome.wustl.edu 37 2 27865301 27865301 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 27865301 27865301 C T SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known silent c.888 p.N296 0.232 NULL pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 42 0 0 32 10 23.8095 BIRC6 0 genome.wustl.edu 37 2 32658787 32658787 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 32658787 32658787 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.3324 p.F1108 0.918 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 25 0 0 18 12 40 VIT 0 genome.wustl.edu 37 2 36994320 36994320 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 36994320 36994320 A G SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.571 p.T191A 0.063 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 58 0 0 83 7 7.77778 PRKD3 0 genome.wustl.edu 37 2 37480415 37480415 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 37480415 37480415 C T SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.2578 p.A860T 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 97 0 0 58 28 32.5581 PKDCC 0 genome.wustl.edu 37 2 42280399 42280399 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 42280399 42280399 G A SNP PKDCC ENST00000401498 human ensembl 74_37 +1 known missense c.518 p.R173K 1.000 NULL NULL - no_errors PKDCC HGNC ENSG00000162878 206 0 0 188 69 26.8482 CMPK2 0 genome.wustl.edu 37 2 7005402 7005402 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 7005402 7005402 G T SNP CMPK2 ENST00000458098 human ensembl 74_37 -1 known silent c.426 p.T142 0.240 pirsf_UMP-CMP_kinase_mit superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit - no_errors CMPK2 HGNC ENSG00000134326 9 0 0 8 8 50 ALMS1 0 genome.wustl.edu 37 2 73677769 73677769 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 73677769 73677769 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.4112 p.G1371D 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 144 0 0 82 49 37.4046 REG1P 0 genome.wustl.edu 37 2 79363886 79363886 + RNA SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 79363886 79363886 A C SNP REG1P ENST00000377435 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors REG1P HGNC ENSG00000204787 11 0 0 13 3 18.75 ST3GAL5 0 genome.wustl.edu 37 2 86073607 86073607 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 86073607 86073607 C T SNP ST3GAL5 ENST00000377332 human ensembl 74_37 -1 known missense c.742 p.A248T 0.900 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 70 0 0 47 22 31.8841 TEKT4 0 genome.wustl.edu 37 2 95537373 95537373 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 95537373 95537373 G A SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.49 p.V17M 0.918 NULL pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 57 0 0 55 21 27.6316 NEURL3 0 genome.wustl.edu 37 2 97165004 97165004 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 97165004 97165004 C T SNP NEURL3 ENST00000310865 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NEURL3 HGNC ENSG00000163121 11 0 0 11 8 42.1053 MGAT4A 0 genome.wustl.edu 37 2 99294914 99294914 + Nonsense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 99294914 99294914 G A SNP MGAT4A ENST00000264968 human ensembl 74_37 -1 known nonsense c.115 p.R39* 1.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 31 0 0 33 12 26.6667 EIF5B 0 genome.wustl.edu 37 2 99999375 99999375 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 99999375 99999375 A G SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.2262 p.A754 0.998 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom 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 35 0 0 26 18 40.9091 ZNF133 0 genome.wustl.edu 37 20 18296519 18296519 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 18296519 18296519 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.1033 p.V345M 0.271 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 ZNF133 HGNC ENSG00000125846 84 0 0 58 43 42.5743 STK35 0 genome.wustl.edu 37 20 2097952 2097952 + Silent SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 2097952 2097952 T C SNP STK35 ENST00000381482 human ensembl 74_37 +1 known silent c.1533 p.A511 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 STK35 HGNC ENSG00000125834 93 0 0 81 47 36.7188 NKX2-2 0 genome.wustl.edu 37 20 21492887 21492887 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 21492887 21492887 G A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known missense c.496 p.R166C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 71 0 0 74 6 7.5 TGM3 0 genome.wustl.edu 37 20 2297997 2297997 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 2297997 2297997 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known silent c.849 p.A283 0.798 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 154 0 0 108 85 44.0415 NCOR1P1 0 genome.wustl.edu 37 20 26094525 26094525 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 26094525 26094525 T C SNP NCOR1P1 ENST00000478176 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors NCOR1P1 HGNC ENSG00000240108 28 0 0 13 3 18.75 C20orf112 0 genome.wustl.edu 37 20 31044128 31044128 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 31044128 31044128 C T SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known silent c.180 p.T60 0.953 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 65 0 0 57 36 38.7097 RALGAPB 0 genome.wustl.edu 37 20 37198625 37198625 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 37198625 37198625 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.4049 p.R1350H 1.000 pfscan_Rap_GAP_dom superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 39 0 0 24 11 31.4286 CENPB 0 genome.wustl.edu 37 20 3766349 3766349 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 3766349 3766349 T C SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.782 p.Y261C 0.996 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 36 0 0 31 22 41.5094 ADRA1D 0 genome.wustl.edu 37 20 4228498 4228498 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 4228498 4228498 C T SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known silent c.1107 p.P369 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 34 0 0 23 13 36.1111 ZSWIM1 0 genome.wustl.edu 37 20 44512182 44512182 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 44512182 44512182 A G SNP ZSWIM1 ENST00000372520 human ensembl 74_37 +1 known silent c.951 p.K317 0.002 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM1 HGNC ENSG00000168612 143 0 0 131 56 29.9465 CDH22 0 genome.wustl.edu 37 20 44806663 44806663 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 44806663 44806663 T C SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.1837 p.T613A 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 51 0 0 56 24 30 ADNP 0 genome.wustl.edu 37 20 49508906 49508906 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 49508906 49508906 G A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.2345 p.T782I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 61 0 0 47 23 32.8571 DIDO1 0 genome.wustl.edu 37 20 61512787 61512787 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 61512787 61512787 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.4521 p.V1507 0.447 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 128 0 0 121 61 33.5165 HELZ2 0 genome.wustl.edu 37 20 62200595 62200595 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 62200595 62200595 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.994 p.V332M 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 40 0 0 28 17 37.7778 ANKRD20A11P 0 genome.wustl.edu 37 21 15352180 15352180 + RNA SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 15352180 15352180 C A SNP ANKRD20A11P ENST00000344693 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 22 0 0 20 10 33.3333 KRTAP13-2 0 genome.wustl.edu 37 21 31744257 31744257 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 31744257 31744257 C T SNP KRTAP13-2 ENST00000399889 human ensembl 74_37 -1 known missense c.275 p.C92Y 0.150 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 90 0 0 85 36 29.7521 KRTAP6-3 0 genome.wustl.edu 37 21 31964786 31964786 + Missense_Mutation SNP A A T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 31964786 31964786 A T SNP KRTAP6-3 ENST00000391624 human ensembl 74_37 +1 known missense c.1 p.M1L 1.000 NULL NULL - no_errors KRTAP6-3 HGNC ENSG00000212938 88 0 0 62 27 30.3371 ENSG00000267976 0 genome.wustl.edu 37 21 37858350 37858350 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 37858350 37858350 A G SNP ENSG00000267976 ENST00000595927 human ensembl 74_37 +1 novel missense c.158 p.Q53R 1.000 NULL NULL - no_errors AP000695.1 Clone_based_ensembl_gene ENSG00000267976 60 0 0 70 27 27.8351 DSCAM 0 genome.wustl.edu 37 21 41648155 41648155 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 41648155 41648155 C A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2225 p.R742L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 53 0 0 51 36 41.3793 ABCG1 0 genome.wustl.edu 37 21 43711671 43711671 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 43711671 43711671 G A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.2032 p.V678M 0.064 pfam_ABC_2_trans,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 128 0 0 110 67 37.8531 KRTAP10-5 0 genome.wustl.edu 37 21 45999669 45999669 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 45999669 45999669 G A SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known missense c.787 p.R263C 0.459 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 105 0 0 86 60 41.0959 KRTAP10-5 0 genome.wustl.edu 37 21 46000448 46000448 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 46000448 46000448 G A SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known missense c.8 p.A3V 0.001 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 189 0 0 149 81 35.2174 PCNT 0 genome.wustl.edu 37 21 47858188 47858188 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 47858188 47858188 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.9211 p.R3071G 0.249 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 87 0 0 78 24 23.5294 DGCR14 0 genome.wustl.edu 37 22 19124873 19124873 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 19124873 19124873 G A SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.998 p.T333M 0.885 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 337 0 0 251 149 37.25 HIC2 0 genome.wustl.edu 37 22 21799578 21799578 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 21799578 21799578 G A SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.394 p.A132T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 75 0 0 52 34 39.5349 SPECC1L 0 genome.wustl.edu 37 22 24734371 24734371 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 24734371 24734371 G A SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.2578 p.A860T 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 272 0 0 229 120 34.384 MN1 0 genome.wustl.edu 37 22 28193118 28193118 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 28193118 28193118 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.3414 p.P1138 0.190 NULL NULL - no_errors MN1 HGNC ENSG00000169184 21 0 0 15 10 40 MN1 0 genome.wustl.edu 37 22 28193441 28193441 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 28193441 28193441 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.3091 p.G1031R 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 134 0 0 97 62 38.9937 THOC5 0 genome.wustl.edu 37 22 29907262 29907262 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 29907262 29907262 C T SNP THOC5 ENST00000397871 human ensembl 74_37 -1 known silent c.1821 p.V607 1.000 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 125 0 0 164 9 5.20231 SLC5A4 0 genome.wustl.edu 37 22 32629011 32629011 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 32629011 32629011 T C SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.896 p.Q299R 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 SLC5A4 HGNC ENSG00000100191 67 0 0 65 19 22.619 MCM5 0 genome.wustl.edu 37 22 35802675 35802675 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 35802675 35802675 C T SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.553 p.R185C 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 51 0 0 73 33 31.1321 MCM5 0 genome.wustl.edu 37 22 35811891 35811891 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 35811891 35811891 C T SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.1273 p.R425W 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 311 0 0 295 175 37.234 CBX6 0 genome.wustl.edu 37 22 39267747 39267747 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 39267747 39267747 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known silent c.129 p.E43 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 36 0 0 38 14 26.9231 L3MBTL2 0 genome.wustl.edu 37 22 41609927 41609927 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 41609927 41609927 C T SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known missense c.293 p.T98I 0.996 pfscan_Znf_FCS pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 137 0 0 99 42 29.7872 ACR 0 genome.wustl.edu 37 22 51183071 51183071 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 51183071 51183071 T C SNP ACR ENST00000527761 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors ACR HGNC ENSG00000100312 51 0 0 31 14 31.1111 BBX 0 genome.wustl.edu 37 3 107517482 107517482 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 107517482 107517482 C T SNP BBX ENST00000416476 human ensembl 74_37 +1 putative missense c.1457 p.A486V 1.000 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 89 0 0 56 42 42.8571 PHLDB2 0 genome.wustl.edu 37 3 111603826 111603826 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 111603826 111603826 A G SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.902 p.Y301C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 65 0 0 46 20 30.303 NR1I2 0 genome.wustl.edu 37 3 119533867 119533867 + Missense_Mutation SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 119533867 119533867 C G SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.953 p.A318G 0.996 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 76 0 0 75 30 28.5714 DIRC2 0 genome.wustl.edu 37 3 122545714 122545714 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 122545714 122545714 C T SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known missense c.505 p.L169F 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 82 0 0 75 51 40.4762 ZNF148 0 genome.wustl.edu 37 3 125007067 125007067 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 125007067 125007067 G A SNP ZNF148 ENST00000360647 human ensembl 74_37 -1 known silent c.339 p.S113 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 22 0 0 20 9 31.0345 CHST13 0 genome.wustl.edu 37 3 126260936 126260936 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 126260936 126260936 G A SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known missense c.541 p.A181T 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 31 0 0 28 13 31.7073 C3orf56 0 genome.wustl.edu 37 3 126915945 126915945 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 126915945 126915945 C T SNP C3orf56 ENST00000398112 human ensembl 74_37 +1 known silent c.417 p.S139 0.000 NULL NULL - no_errors C3orf56 HGNC ENSG00000214324 290 0 0 217 129 37.2832 COPG1 0 genome.wustl.edu 37 3 128984519 128984519 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 128984519 128984519 T C SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1352 p.L451P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 96 0 0 66 50 43.1034 PLXND1 0 genome.wustl.edu 37 3 129324787 129324787 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 129324787 129324787 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known silent c.696 p.F232 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 67 0 0 37 23 38.3333 IQSEC1 0 genome.wustl.edu 37 3 12978181 12978181 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 12978181 12978181 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.377 p.R126Q 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 9 0 0 6 5 45.4545 C3orf36 0 genome.wustl.edu 37 3 133647584 133647584 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 133647584 133647584 G T SNP C3orf36 ENST00000408895 human ensembl 74_37 -1 known missense c.64 p.L22I 0.000 NULL NULL - no_errors C3orf36 HGNC ENSG00000221972 97 0 0 92 46 33.3333 EPHB1 0 genome.wustl.edu 37 3 134670649 134670649 + Missense_Mutation SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 134670649 134670649 T A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.560 p.L187H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 232 0 0 171 103 37.5912 FBLN2 0 genome.wustl.edu 37 3 13661294 13661294 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 13661294 13661294 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.2118 p.P706 0.064 smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 43 0 0 32 12 27.2727 FOXL2 0 genome.wustl.edu 37 3 138665453 138665453 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 138665453 138665453 C T SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known missense c.112 p.G38S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 38 0 0 46 34 42.5 PRR23B 0 genome.wustl.edu 37 3 138739336 138739336 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 138739336 138739336 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.168 p.A56 0.002 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 22 0 0 17 10 37.037 COPB2 0 genome.wustl.edu 37 3 139096964 139096964 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 139096964 139096964 G A SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known silent c.423 p.H141 1.000 pirsf_COPB2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 170 0 0 126 69 35.3846 GPR171 0 genome.wustl.edu 37 3 150916403 150916403 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 150916403 150916403 G A SNP GPR171 ENST00000309180 human ensembl 74_37 -1 known silent c.771 p.C257 0.666 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 89 0 0 54 28 34.1463 TIPARP 0 genome.wustl.edu 37 3 156395504 156395504 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 156395504 156395504 C T SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known silent c.18 p.T6 0.295 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 108 0 0 83 45 35.1562 HTR3E 0 genome.wustl.edu 37 3 183824403 183824403 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 183824403 183824403 G T SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.1338 p.M446I 0.998 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 138 0 0 158 13 7.60234 EHHADH 0 genome.wustl.edu 37 3 184953084 184953084 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 184953084 184953084 G A SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known silent c.345 p.H115 0.026 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 63 0 0 56 35 38.4615 LINC00969 0 genome.wustl.edu 37 3 195400728 195400728 + RNA SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 195400728 195400728 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LINC00969 HGNC ENSG00000242086 63 0 0 88 6 6.38298 PAK2 0 genome.wustl.edu 37 3 196547438 196547438 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 196547438 196547438 G T SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.1350 p.R450S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 57 0 0 47 26 35.6164 TRANK1 0 genome.wustl.edu 37 3 36888771 36888771 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 36888771 36888771 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.4822 p.R1608W 0.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 33 0 0 8 15 65.2174 VILL 0 genome.wustl.edu 37 3 38035889 38035889 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 38035889 38035889 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.273 p.T91 0.214 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 56 0 0 24 31 56.3636 CYB561D2 0 genome.wustl.edu 37 3 50390758 50390758 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 50390758 50390758 C T SNP CYB561D2 ENST00000232508 human ensembl 74_37 +1 known silent c.252 p.R84 0.965 pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D2 HGNC ENSG00000114395 106 0 0 22 38 63.3333 RAD54L2 0 genome.wustl.edu 37 3 51669622 51669622 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 51669622 51669622 C T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.1156 p.R386C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 48 0 0 13 23 63.8889 DNAH12 0 genome.wustl.edu 37 3 57493516 57493516 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 57493516 57493516 G T SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.751 p.Q251K 0.929 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 45 0 0 31 2 6.06061 FAM86DP 0 genome.wustl.edu 37 3 75480030 75480030 + RNA SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 75480030 75480030 G A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.749 - - - no_errors FAM86DP HGNC ENSG00000244026 75 0 0 68 5 6.84932 CADM2 0 genome.wustl.edu 37 3 85932472 85932472 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known silent c.249 p.R83 0.920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 23 0 0 14 9 39.1304 COL8A1 0 genome.wustl.edu 37 3 99514765 99514765 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 99514765 99514765 G A SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.2020 p.V674M 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 112 0 0 96 52 35.1351 GSTCD 0 genome.wustl.edu 37 4 106640591 106640591 + Silent SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 106640591 106640591 C A SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known silent c.801 p.A267 0.352 superfamily_Glutathione-S-Trfase_C-like pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 105 0 0 100 48 32.4324 FAT4 0 genome.wustl.edu 37 4 126238850 126238850 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 126238850 126238850 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.1284 p.R428 0.874 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 50 0 0 49 32 39.5062 FAT4 0 genome.wustl.edu 37 4 126241256 126241256 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 126241256 126241256 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3690 p.L1230F 0.962 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 39 0 0 44 27 38.0282 FAT4 0 genome.wustl.edu 37 4 126373025 126373025 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 126373025 126373025 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10854 p.E3618D 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 96 0 0 71 34 32.381 PCDH10 0 genome.wustl.edu 37 4 134072270 134072270 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 134072270 134072270 A G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.975 p.Q325 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 141 0 0 111 75 40.3226 DCHS2 0 genome.wustl.edu 37 4 155157276 155157276 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 155157276 155157276 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.7163 p.E2388G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 99 0 0 60 43 41.7476 DCHS2 0 genome.wustl.edu 37 4 155219587 155219587 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 155219587 155219587 T G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.4514 p.K1505T 0.001 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 159 0 0 123 57 31.6667 ASIC5 0 genome.wustl.edu 37 4 156751149 156751149 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 156751149 156751149 C T SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known silent c.1377 p.T459 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 15 0 0 14 3 17.6471 HSP90AA6P 0 genome.wustl.edu 37 4 171526038 171526038 + RNA SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 171526038 171526038 T C SNP HSP90AA6P ENST00000325407 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HSP90AA6P HGNC ENSG00000181359 14 0 0 20 7 25.9259 GLRA3 0 genome.wustl.edu 37 4 175649803 175649803 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 175649803 175649803 C T SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.314 p.R105H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 93 0 0 61 46 42.9907 LAP3 0 genome.wustl.edu 37 4 17579176 17579176 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 17579176 17579176 G A SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known missense c.88 p.A30T 0.363 NULL pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 11 0 0 12 3 20 WDR17 0 genome.wustl.edu 37 4 177046415 177046415 + Silent SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 177046415 177046415 T A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known silent c.771 p.S257 0.817 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 123 0 0 86 44 33.8462 CDKN2AIP 0 genome.wustl.edu 37 4 184368545 184368545 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 184368545 184368545 C A SNP CDKN2AIP ENST00000504169 human ensembl 74_37 +1 known missense c.1708 p.P570T 1.000 NULL pfam_DUF3469,pfscan_dsRNA-bd_dom - no_errors CDKN2AIP HGNC ENSG00000168564 163 0 0 112 66 37.0787 HELT 0 genome.wustl.edu 37 4 185940639 185940639 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 185940639 185940639 G A SNP HELT ENST00000338875 human ensembl 74_37 +1 known silent c.258 p.A86 0.992 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 18 0 0 19 10 34.4828 SORBS2 0 genome.wustl.edu 37 4 186583287 186583287 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 186583287 186583287 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.65 p.S22N 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 51 0 0 30 24 44.4444 APBB2 0 genome.wustl.edu 37 4 40946923 40946923 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 40946923 40946923 A G SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known missense c.1000 p.S334P 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 98 0 0 69 37 34.9057 ABCA11P 0 genome.wustl.edu 37 4 420862 420862 + RNA SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 420862 420862 A G SNP ABCA11P ENST00000507854 human ensembl 74_37 -1 known rna NULL NULL 0.470 - - - no_errors ABCA11P HGNC ENSG00000251595 25 0 0 16 4 20 DCUN1D4 0 genome.wustl.edu 37 4 52765513 52765513 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 52765513 52765513 T G SNP DCUN1D4 ENST00000451288 human ensembl 74_37 +1 known missense c.716 p.L239R 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D4 HGNC ENSG00000109184 21 0 0 20 8 28.5714 JAKMIP1 0 genome.wustl.edu 37 4 6087300 6087300 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 6087300 6087300 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.681 p.G227 0.712 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 216 0 0 266 15 5.33808 JAKMIP1 0 genome.wustl.edu 37 4 6107371 6107371 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 6107371 6107371 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.453 p.L151 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 18 0 0 13 11 45.8333 PSAPL1 0 genome.wustl.edu 37 4 7435572 7435572 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 7435572 7435572 G T SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known silent c.1035 p.P345 0.001 pirsf_Saposin_chordata,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,prints_Saposin,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 222 0 0 147 68 31.6279 CCDC158 0 genome.wustl.edu 37 4 77317535 77317535 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 77317535 77317535 C T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.175 p.V59M 0.999 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 68 0 0 57 19 25 MCC 0 genome.wustl.edu 37 5 112403793 112403793 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 112403793 112403793 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known silent c.1443 p.G481 0.158 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 77 0 0 63 24 27.5862 FBN2 0 genome.wustl.edu 37 5 127681117 127681117 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 127681117 127681117 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.3149 p.T1050M 0.006 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 202 0 0 194 102 34.4595 KIF3A 0 genome.wustl.edu 37 5 132070141 132070141 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 132070141 132070141 G A SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known silent c.36 p.C12 0.946 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 99 0 0 123 9 6.81818 DNAH5 0 genome.wustl.edu 37 5 13719115 13719115 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 13719115 13719115 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.12375 p.A4125 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 78 0 0 58 32 35.5556 KDM3B 0 genome.wustl.edu 37 5 137727492 137727492 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 137727492 137727492 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.2171 p.R724H 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 127 0 0 110 72 39.5604 PCDHB3 0 genome.wustl.edu 37 5 140481106 140481106 + Silent SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 140481106 140481106 T G SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.873 p.T291 0.002 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 PCDHB3 HGNC ENSG00000113205 63 0 0 38 31 44.9275 PCDHB4 0 genome.wustl.edu 37 5 140502924 140502924 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 140502924 140502924 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1344 p.P448 0.004 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 292 0 0 260 122 31.9372 PCDHB16 0 genome.wustl.edu 37 5 140563640 140563640 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 140563640 140563640 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1506 p.S502 0.127 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 PCDHB16 HGNC ENSG00000196963 309 1 0.322581 275 158 36.4896 DIAPH1 0 genome.wustl.edu 37 5 140953602 140953602 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 140953602 140953602 A G SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known silent c.1815 p.S605 0.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 16 0 0 7 8 53.3333 DPYSL3 0 genome.wustl.edu 37 5 146777407 146777407 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 146777407 146777407 G A SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.1283 p.A428V 0.995 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 48 0 0 28 20 41.6667 RNF145 0 genome.wustl.edu 37 5 158601053 158601053 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 158601053 158601053 G A SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known silent c.825 p.S275 0.962 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 42 0 0 71 21 22.8261 TENM2 0 genome.wustl.edu 37 5 167617365 167617365 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 167617365 167617365 C A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.2593 p.P865T 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 55 0 0 40 48 54.5455 DOCK2 0 genome.wustl.edu 37 5 169141082 169141082 + Silent SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 169141082 169141082 T G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.1710 p.S570 0.954 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 101 0 0 87 50 36.4964 F12 0 genome.wustl.edu 37 5 176831539 176831539 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 176831539 176831539 T C SNP F12 ENST00000253496 human ensembl 74_37 -1 known missense c.761 p.Q254R 0.029 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 30 0 0 16 10 38.4615 ZNF454 0 genome.wustl.edu 37 5 178392714 178392714 + Nonsense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 178392714 178392714 G T SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known nonsense c.1309 p.E437* 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 92 0 0 84 44 34.375 ADAMTS2 0 genome.wustl.edu 37 5 178581083 178581083 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 178581083 178581083 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.1349 p.R450H 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 29 0 0 25 12 32.4324 CDH12 0 genome.wustl.edu 37 5 21760759 21760759 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 21760759 21760759 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1541 p.D514G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 112 0 0 63 45 41.6667 RXFP3 0 genome.wustl.edu 37 5 33937581 33937581 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 33937581 33937581 C A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.736 p.L246M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 19 0 0 17 10 37.037 BRIX1 0 genome.wustl.edu 37 5 34922810 34922810 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 34922810 34922810 C T SNP BRIX1 ENST00000336767 human ensembl 74_37 +1 known silent c.447 p.L149 0.998 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 144 0 0 108 47 30.3226 HTR1A 0 genome.wustl.edu 37 5 63256881 63256881 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 63256881 63256881 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.666 p.A222 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 217 0 0 171 106 38.2671 SNORA47 0 genome.wustl.edu 37 5 76376288 76376288 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 76376288 76376288 C T SNP SNORA47 ENST00000458862 human ensembl 74_37 -1 known rna NULL NULL 0.554 - - - no_errors SNORA47 HGNC ENSG00000238961 58 0 0 45 27 37.5 RASGRF2 0 genome.wustl.edu 37 5 80366158 80366158 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 80366158 80366158 C T SNP RASGRF2 ENST00000502677 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RASGRF2 HGNC ENSG00000113319 12 0 0 13 4 23.5294 ACOT12 0 genome.wustl.edu 37 5 80689868 80689868 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 80689868 80689868 C T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known silent c.66 p.A22 0.961 NULL pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 16 0 0 20 3 13.0435 COX7C 0 genome.wustl.edu 37 5 85913866 85913866 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 85913866 85913866 C T SNP COX7C ENST00000505430 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors COX7C HGNC ENSG00000127184 60 0 0 65 27 29.3478 GPR98 0 genome.wustl.edu 37 5 89948236 89948236 + Nonsense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 89948236 89948236 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.3490 p.Q1164* 0.812 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 106 0 0 78 31 28.4404 GPR150 0 genome.wustl.edu 37 5 94956654 94956654 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 94956654 94956654 G A SNP GPR150 ENST00000380007 human ensembl 74_37 +1 known silent c.675 p.P225 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR150 HGNC ENSG00000178015 18 0 0 12 10 45.4545 RPF2 0 genome.wustl.edu 37 6 111336988 111336988 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 111336988 111336988 C T SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known silent c.525 p.I175 0.997 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 62 0 0 27 29 51.7857 FYN 0 genome.wustl.edu 37 6 112024169 112024169 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 112024169 112024169 G A SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.616 p.R206C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 68 0 0 20 46 69.697 SOGA3 0 genome.wustl.edu 37 6 127797312 127797312 + Missense_Mutation SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 127797312 127797312 T A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1859 p.D620V 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 201 0 0 88 85 49.1329 HBS1L 0 genome.wustl.edu 37 6 135318688 135318688 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 135318688 135318688 C A SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known missense c.646 p.A216S 0.171 NULL pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 106 0 0 82 34 29.3103 RANBP9 0 genome.wustl.edu 37 6 13622721 13622721 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 13622721 13622721 G A SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.2063 p.T688I 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 76 0 0 21 41 66.129 RANBP9 0 genome.wustl.edu 37 6 13644826 13644826 + Missense_Mutation SNP G G C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 13644826 13644826 G C SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.1063 p.R355G 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 99 0 0 23 48 67.6056 STX11 0 genome.wustl.edu 37 6 144507972 144507972 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 144507972 144507972 G A SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.208 p.A70T 0.393 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 39 0 0 40 28 41.1765 SYNE1 0 genome.wustl.edu 37 6 152679642 152679642 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 152679642 152679642 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10474 p.R3492C 0.217 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 103 0 0 60 40 40 LPA 0 genome.wustl.edu 37 6 161071490 161071490 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 161071490 161071490 T C SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.89 p.H30R 0.059 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 181 0 0 233 14 5.66802 THBS2 0 genome.wustl.edu 37 6 169639759 169639759 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 169639759 169639759 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1064 p.C355Y 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 14 0 0 13 5 27.7778 NHLRC1 0 genome.wustl.edu 37 6 18122551 18122551 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 18122551 18122551 G A SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known missense c.287 p.A96V 0.045 NULL smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 26 0 0 2 15 88.2353 GPLD1 0 genome.wustl.edu 37 6 24436860 24436860 + Missense_Mutation SNP G G C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 24436860 24436860 G C SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.2302 p.L768V 0.000 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 60 0 0 18 34 65.3846 BTN3A1 0 genome.wustl.edu 37 6 26409922 26409922 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 26409922 26409922 A C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.877 p.M293L 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 262 0 0 169 52 23.5294 AGER 0 genome.wustl.edu 37 6 32149201 32149201 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 32149201 32149201 C T SNP AGER ENST00000375070 human ensembl 74_37 -1 known missense c.1138 p.G380R 1.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AGER HGNC ENSG00000204305 219 0 0 72 103 58.8571 ITPR3 0 genome.wustl.edu 37 6 33626517 33626517 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 33626517 33626517 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.440 p.A147V 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 302 0 0 82 170 67.4603 KCNK16 0 genome.wustl.edu 37 6 39282792 39282792 + Nonsense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 39282792 39282792 C A SNP KCNK16 ENST00000373229 human ensembl 74_37 -1 known nonsense c.916 p.G306* 0.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK16 HGNC ENSG00000095981 111 1 0.892857 61 53 46.4912 USP49 0 genome.wustl.edu 37 6 41774065 41774065 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 41774065 41774065 C T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known silent c.657 p.A219 0.154 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 44 0 0 37 21 36.2069 TRERF1 0 genome.wustl.edu 37 6 42204007 42204007 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 42204007 42204007 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.3062 p.P1021L 0.859 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 26 0 0 31 7 18.4211 CUL9 0 genome.wustl.edu 37 6 43155045 43155045 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 43155045 43155045 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.1449 p.P483 0.821 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 186 1 0.534759 164 109 39.9267 PKHD1 0 genome.wustl.edu 37 6 51637556 51637556 + Silent SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 51637556 51637556 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.8586 p.A2862 0.994 pfam_G8_domain pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 75 0 0 65 32 32.9897 MCM3 0 genome.wustl.edu 37 6 52147569 52147569 + Missense_Mutation SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 52147569 52147569 C G SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.417 p.Q139H 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 68 0 0 73 32 30.4762 GCM1 0 genome.wustl.edu 37 6 52998929 52998929 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 52998929 52998929 T C SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.269 p.E90G 0.996 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 95 0 0 83 45 35.1562 KCNQ5 0 genome.wustl.edu 37 6 73904777 73904777 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 73904777 73904777 A C SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2469 p.E823D 0.980 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 88 0 0 31 32 50.7937 GIGYF1 0 genome.wustl.edu 37 7 100283658 100283658 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 100283658 100283658 G A SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known silent c.993 p.F331 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 87 0 0 72 40 35.7143 COL26A1 0 genome.wustl.edu 37 7 101183279 101183279 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 101183279 101183279 A G SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.553 p.I185V 1.000 NULL pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 62 0 0 38 11 22.449 C7orf50 0 genome.wustl.edu 37 7 1049623 1049623 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 1049623 1049623 G A SNP C7orf50 ENST00000357429 human ensembl 74_37 -1 known missense c.286 p.R96C 0.009 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 15 0 0 12 9 42.8571 PPP1R3A 0 genome.wustl.edu 37 7 113519924 113519924 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 113519924 113519924 G A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1223 p.T408I 0.584 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 118 0 0 155 11 6.62651 CPED1 0 genome.wustl.edu 37 7 120740134 120740134 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 120740134 120740134 C T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.904 p.R302C 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 43 0 0 32 19 37.2549 PTPRZ1 0 genome.wustl.edu 37 7 121652741 121652741 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 121652741 121652741 T G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.3641 p.V1214G 0.979 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 145 0 0 108 47 30.3226 RNF133 0 genome.wustl.edu 37 7 122338523 122338523 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 122338523 122338523 G A SNP RNF133 ENST00000340112 human ensembl 74_37 -1 known silent c.450 p.V150 0.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 108 0 0 96 49 33.7931 CCDC136 0 genome.wustl.edu 37 7 128447448 128447448 + Missense_Mutation SNP A A T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 128447448 128447448 A T SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.1454 p.K485M 0.968 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 24 0 0 10 4 28.5714 PLXNA4 0 genome.wustl.edu 37 7 131912276 131912276 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 131912276 131912276 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1816 p.V606M 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 69 0 0 60 20 25 C7orf49 0 genome.wustl.edu 37 7 134853534 134853534 + Nonsense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 134853534 134853534 G A SNP C7orf49 ENST00000430372 human ensembl 74_37 -1 novel nonsense c.97 p.R33* 0.001 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 266 1 0.374532 197 144 42.2287 ATP6V0A4 0 genome.wustl.edu 37 7 138417723 138417723 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 138417723 138417723 C T SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.1807 p.V603I 0.995 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 73 0 0 50 23 31.5068 MGAM 0 genome.wustl.edu 37 7 141773916 141773916 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 141773916 141773916 C A SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative missense c.5218 p.L1740I 0.987 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 32 0 0 33 13 28.2609 PRSS3P2 0 genome.wustl.edu 37 7 142482229 142482229 + RNA SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 142482229 142482229 T A SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.925 - - - no_errors PRSS3P2 HGNC ENSG00000250606 52 0 0 60 4 6.25 PRSS3P2 0 genome.wustl.edu 37 7 142482242 142482242 + RNA SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 142482242 142482242 G A SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.866 - - - no_errors PRSS3P2 HGNC ENSG00000250606 49 0 0 66 4 5.71429 KMT2C 0 genome.wustl.edu 37 7 151884817 151884817 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 151884817 151884817 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.4776 p.S1592 0.011 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 97 0 0 86 46 34.8485 HTR5A 0 genome.wustl.edu 37 7 154863077 154863077 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 154863077 154863077 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.468 p.C156 0.825 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 89 0 0 89 44 33.0827 DNAH11 0 genome.wustl.edu 37 7 21920488 21920488 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 21920488 21920488 A G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.12385 p.N4129D 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 43 0 0 36 9 20 FAM221A 0 genome.wustl.edu 37 7 23728932 23728932 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 23728932 23728932 G T SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known missense c.284 p.C95F 1.000 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 88 0 0 69 25 26.5957 FKBP9 0 genome.wustl.edu 37 7 33014948 33014948 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 33014948 33014948 C T SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known silent c.681 p.N227 0.213 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 54 0 0 41 21 33.871 TNRC18 0 genome.wustl.edu 37 7 5427549 5427549 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 5427549 5427549 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.1906 p.R636C 0.023 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 10 0 0 8 10 55.5556 LINC00174 0 genome.wustl.edu 37 7 65842409 65842409 + RNA SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 65842409 65842409 G A SNP LINC00174 ENST00000421767 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors LINC00174 HGNC ENSG00000179406 17 0 0 7 8 53.3333 WBSCR17 0 genome.wustl.edu 37 7 71130460 71130460 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 71130460 71130460 A C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1145 p.K382T 0.997 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 113 0 0 107 57 34.7561 HIP1 0 genome.wustl.edu 37 7 75191425 75191425 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 75191425 75191425 C T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.1070 p.S357N 0.882 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 92 0 0 76 43 36.1345 COL28A1 0 genome.wustl.edu 37 7 7530221 7530221 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 7530221 7530221 C T SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.1083 p.Q361 0.990 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 42 0 0 27 20 42.5532 PTPN12 0 genome.wustl.edu 37 7 77200395 77200395 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 77200395 77200395 C T SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.100 p.R34W 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 14 0 0 10 7 41.1765 ABCB4 0 genome.wustl.edu 37 7 87104745 87104745 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 87104745 87104745 G A SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.37 p.R13C 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 91 0 0 79 39 33.0508 TRRAP 0 genome.wustl.edu 37 7 98609737 98609737 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 98609737 98609737 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.11339 p.A3780V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 59 0 0 48 23 32.3944 SMURF1 0 genome.wustl.edu 37 7 98638150 98638150 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 98638150 98638150 C T SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known silent c.1479 p.G493 0.953 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 110 0 0 64 45 41.2844 TAF6 0 genome.wustl.edu 37 7 99711374 99711374 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 99711374 99711374 C T SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.262 p.A88T 0.962 superfamily_Histone-fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 45 0 0 49 28 36.3636 ADCY8 0 genome.wustl.edu 37 8 131916177 131916177 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 131916177 131916177 A G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1752 p.T584 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 139 0 0 38 48 55.814 COL22A1 0 genome.wustl.edu 37 8 139618653 139618653 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 139618653 139618653 G T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4075 p.P1359T 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 20 0 0 9 15 62.5 KCNK9 0 genome.wustl.edu 37 8 140715004 140715004 + Missense_Mutation SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 140715004 140715004 A G SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.232 p.W78R 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 52 0 0 17 18 51.4286 GPR20 0 genome.wustl.edu 37 8 142367316 142367316 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 142367316 142367316 G A SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known silent c.708 p.R236 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 20 0 0 8 4 33.3333 BAI1 0 genome.wustl.edu 37 8 143558811 143558811 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 143558811 143558811 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1288 p.R430W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 130 0 0 107 60 35.9281 FAM83H 0 genome.wustl.edu 37 8 144810229 144810229 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 144810229 144810229 G A SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.1402 p.R468C 0.284 NULL pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 74 0 0 60 34 36.1702 SCRIB 0 genome.wustl.edu 37 8 144885864 144885864 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 144885864 144885864 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.3367 p.A1123T 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 12 0 0 11 7 38.8889 PLEC 0 genome.wustl.edu 37 8 145001034 145001034 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 145001034 145001034 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.4373 p.T1458M 0.991 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 93 0 0 70 44 38.5965 SPATC1 0 genome.wustl.edu 37 8 145101823 145101823 + Missense_Mutation SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 145101823 145101823 C G SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.1742 p.A581G 0.960 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 100 0 0 78 46 37.0968 PPP1R16A 0 genome.wustl.edu 37 8 145722779 145722779 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 145722779 145722779 C A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.202 p.L68I 0.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 56 0 0 41 30 42.2535 MSR1 0 genome.wustl.edu 37 8 16007762 16007762 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 16007762 16007762 G A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known silent c.957 p.L319 0.002 pfam_Collagen pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 22 0 0 39 6 13.3333 ZNF596 0 genome.wustl.edu 37 8 195481 195481 + Nonsense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 195481 195481 C T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known nonsense c.634 p.R212* 0.008 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF596 HGNC ENSG00000172748 65 0 0 61 37 37.7551 PIWIL2 0 genome.wustl.edu 37 8 22173817 22173817 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 22173817 22173817 C T SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known silent c.2268 p.S756 0.770 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 47 0 0 39 13 25 SLC25A37 0 genome.wustl.edu 37 8 23425872 23425872 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 23425872 23425872 G A SNP SLC25A37 ENST00000519973 human ensembl 74_37 +1 known silent c.477 p.A159 0.009 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 307 0 0 224 100 30.8642 ZNF395 0 genome.wustl.edu 37 8 28210871 28210871 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 28210871 28210871 C T SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.638 p.G213D 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 27 0 0 19 9 32.1429 FUT10 0 genome.wustl.edu 37 8 33247216 33247216 + Silent SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 33247216 33247216 A G SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known silent c.477 p.F159 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 118 0 0 85 54 38.8489 ANK1 0 genome.wustl.edu 37 8 41753957 41753957 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 41753957 41753957 G A SNP ANK1 ENST00000265709 human ensembl 74_37 -1 known silent c.42 p.I14 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 24 0 0 29 13 30.9524 KAT6A 0 genome.wustl.edu 37 8 41834610 41834610 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 41834610 41834610 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.1279 p.R427W 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 82 0 0 66 34 34 MSC 0 genome.wustl.edu 37 8 72754805 72754805 + RNA SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 72754805 72754805 T G SNP MSC ENST00000518440 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MSC HGNC ENSG00000178860 180 0 0 152 75 33.0396 ZFHX4 0 genome.wustl.edu 37 8 77617679 77617679 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 77617679 77617679 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1356 p.N452K 0.123 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 39 0 0 46 21 31.3433 ZFHX4 0 genome.wustl.edu 37 8 77775430 77775430 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 77775430 77775430 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9480 p.Q3160H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 9 0 0 10 8 44.4444 TBC1D2 0 genome.wustl.edu 37 9 100983416 100983416 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 100983416 100983416 C T SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.1073 p.R358Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 13 0 0 12 12 50 ANKS6 0 genome.wustl.edu 37 9 101536344 101536344 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 101536344 101536344 G T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.1636 p.L546I 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 62 0 0 61 11 15.2778 ALDOB 0 genome.wustl.edu 37 9 104193132 104193132 + Missense_Mutation SNP T T G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 104193132 104193132 T G SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.38 p.K13T 1.000 NULL pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 47 0 0 36 16 30.7692 ORM1 0 genome.wustl.edu 37 9 117087179 117087179 + Splice_Site SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 117087179 117087179 T C SNP ORM1 ENST00000259396 human ensembl 74_37 +1 known splice_site c.436+2 e4+2 0.991 - - - no_errors ORM1 HGNC ENSG00000229314 65 0 0 65 20 23.5294 C5 0 genome.wustl.edu 37 9 123723779 123723779 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 123723779 123723779 G A SNP C5 ENST00000223642 human ensembl 74_37 -1 known silent c.4569 p.A1523 0.001 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 34 0 0 28 17 37.7778 OR1K1 0 genome.wustl.edu 37 9 125562773 125562773 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 125562773 125562773 C T SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known silent c.372 p.Y124 0.797 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 61 0 0 67 36 34.9515 ZBTB34 0 genome.wustl.edu 37 9 129642652 129642652 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 129642652 129642652 G A SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known missense c.974 p.R325H 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 34 0 0 37 29 43.9394 PKN3 0 genome.wustl.edu 37 9 131482918 131482918 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 131482918 131482918 C T SNP PKN3 ENST00000483521 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PKN3 HGNC ENSG00000160447 28 0 0 29 9 23.6842 ZER1 0 genome.wustl.edu 37 9 131512933 131512933 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 131512933 131512933 C A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.1321 p.V441L 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 56 0 0 50 28 35.8974 CRAT 0 genome.wustl.edu 37 9 131862838 131862838 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 131862838 131862838 G A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.936 p.G312 0.001 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 76 0 0 60 38 38.7755 GTF3C4 0 genome.wustl.edu 37 9 135553727 135553727 + Missense_Mutation SNP A A T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 135553727 135553727 A T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.721 p.R241W 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 123 0 0 125 68 35.2332 OLFM1 0 genome.wustl.edu 37 9 138011444 138011444 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 138011444 138011444 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.878 p.R293H 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 94 0 0 82 60 42.2535 MAMDC4 0 genome.wustl.edu 37 9 139753497 139753497 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 139753497 139753497 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.3234 p.G1078 0.998 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 9 0 0 12 5 29.4118 NDOR1 0 genome.wustl.edu 37 9 140110805 140110805 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 140110805 140110805 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known silent c.1758 p.D586 0.002 NULL pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 77 0 0 65 37 36.2745 DENND4C 0 genome.wustl.edu 37 9 19334985 19334985 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 19334985 19334985 G A SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.2471 p.R824Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 100 0 0 65 27 29.3478 SMARCA2 0 genome.wustl.edu 37 9 2039502 2039502 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 2039502 2039502 C A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.392 p.P131Q 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 134 0 0 100 41 29.078 FOCAD 0 genome.wustl.edu 37 9 20881873 20881873 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 20881873 20881873 T C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.2321 p.L774S 0.996 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 99 0 0 64 29 31.1828 GBA2 0 genome.wustl.edu 37 9 35748547 35748547 + Missense_Mutation SNP C C A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 35748547 35748547 C A SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known missense c.155 p.R52L 0.000 pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 215 0 0 151 106 41.2451 ENSG00000250850 0 genome.wustl.edu 37 9 37002842 37002842 + Splice_Site SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 37002842 37002842 G A SNP ENSG00000250850 ENST00000509911 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-297B17.3 Clone_based_vega_gene ENSG00000250850 12 0 0 4 4 50 ENSG00000227582 0 genome.wustl.edu 37 9 66517373 66517373 + RNA SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 66517373 66517373 C T SNP ENSG00000227582 ENST00000590130 human ensembl 74_37 -1 known rna NULL NULL 0.302 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 188 0 0 168 19 10.1604 PGM5 0 genome.wustl.edu 37 9 70993152 70993152 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 70993152 70993152 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.299 p.S100L 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 49 0 0 73 21 22.3404 SPATA31E1 0 genome.wustl.edu 37 9 90497878 90497878 + Silent SNP C C G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 90497878 90497878 C G SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known silent c.72 p.P24 0.094 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 58 0 0 45 22 32.8358 BARX1 0 genome.wustl.edu 37 9 96715468 96715468 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 96715468 96715468 G A SNP BARX1 ENST00000253968 human ensembl 74_37 -1 known silent c.225 p.A75 0.989 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC ENSG00000131668 9 0 0 7 3 30 PTCH1 0 genome.wustl.edu 37 9 98231285 98231285 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 98231285 98231285 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.1998 p.T666 0.001 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 176 0 0 161 88 35.3414 MT-TV 0 genome.wustl.edu 37 MT 1661 1661 + RNA SNP A A G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f MT 1661 1661 A G SNP MT-TV ENST00000387342 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TV HGNC ENSG00000210077 125 0 0 4 98 96.0784 ESX1 0 genome.wustl.edu 37 X 103495216 103495216 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 103495216 103495216 G T SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known missense c.914 p.P305H 0.005 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 28 0 0 39 4 9.30233 CHRDL1 0 genome.wustl.edu 37 X 110035370 110035370 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 110035370 110035370 A C SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.40 p.F14V 0.731 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 33 0 0 10 18 64.2857 CAPN6 0 genome.wustl.edu 37 X 110491974 110491974 + Missense_Mutation SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 110491974 110491974 A C SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.1307 p.L436R 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 48 0 0 19 39 67.2414 ELF4 0 genome.wustl.edu 37 X 129205342 129205342 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 129205342 129205342 G A SNP ELF4 ENST00000308167 human ensembl 74_37 -1 known silent c.585 p.I195 0.613 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 47 0 0 26 8 23.5294 ARHGAP36 0 genome.wustl.edu 37 X 130220338 130220338 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 130220338 130220338 C T SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known silent c.1317 p.R439 0.963 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 57 0 0 16 47 74.6032 OFD1 0 genome.wustl.edu 37 X 13787306 13787306 + RNA SNP T T A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 13787306 13787306 T A SNP OFD1 ENST00000490265 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors OFD1 HGNC ENSG00000046651 30 0 0 12 23 65.7143 IDS 0 genome.wustl.edu 37 X 148579806 148579806 + Silent SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 148579806 148579806 G T SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.540 p.A180 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 36 0 0 19 37 66.0714 FANCB 0 genome.wustl.edu 37 X 14868779 14868779 + Silent SNP A A C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 14868779 14868779 A C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known silent c.1344 p.P448 0.563 NULL NULL - no_errors FANCB HGNC ENSG00000181544 17 0 0 3 16 84.2105 P2RY8 0 genome.wustl.edu 37 X 1584492 1584492 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 1584492 1584492 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known silent c.960 p.T320 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 118 0 0 48 57 54.2857 CHST7 0 genome.wustl.edu 37 X 46434041 46434041 + Silent SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 46434041 46434041 C T SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known silent c.675 p.C225 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 8 0 0 4 11 73.3333 FTSJ1 0 genome.wustl.edu 37 X 48337473 48337473 + Silent SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 48337473 48337473 G A SNP FTSJ1 ENST00000348411 human ensembl 74_37 +1 known silent c.330 p.A110 0.906 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJ1 HGNC ENSG00000068438 80 0 0 34 69 66.9903 CACNA1F 0 genome.wustl.edu 37 X 49065045 49065045 + Missense_Mutation SNP T T C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 49065045 49065045 T C SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.5086 p.S1696G 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 20 0 0 31 3 8.82353 NUDT10 0 genome.wustl.edu 37 X 51076061 51076061 + Missense_Mutation SNP G G A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 51076061 51076061 G A SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known missense c.244 p.V82I 0.502 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 52 0 0 14 44 75.8621 FOXO4 0 genome.wustl.edu 37 X 70320595 70320595 + Missense_Mutation SNP C C T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 70320595 70320595 C T SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known missense c.515 p.T172I 0.998 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 28 0 0 13 24 64.8649 PABPC5 0 genome.wustl.edu 37 X 90690958 90690958 + Missense_Mutation SNP G G T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 90690958 90690958 G T SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.382 p.A128S 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 57 0 0 15 58 79.4521 UBE4B 0 genome.wustl.edu 37 1 10177642 10177642 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 10177642 10177642 A - DEL UBE4B ENST00000343090 human ensembl 74_37 +1 known frame_shift_del c.1322 p.A444fs 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 32 0 0 30 14 31.8182 SLC25A24 0 genome.wustl.edu 37 1 108700182 108700183 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 108700182 108700183 - T INS SLC25A24 ENST00000565488 human ensembl 74_37 -1 known frame_shift_ins c.571_570 p.S190fs 0.058:0.000 superfamily_Mt_carrier_dom,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 116 0 0 102 37 26.6187 KCND3 0 genome.wustl.edu 37 1 112329567 112329567 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 112329567 112329567 T - DEL KCND3 ENST00000315987 human ensembl 74_37 -1 known frame_shift_del c.1268 p.K423fs 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 103 0 0 79 49 38.2812 TMEM51 0 genome.wustl.edu 37 1 15545911 15545912 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 15545911 15545912 - A INS TMEM51 ENST00000376008 human ensembl 74_37 +1 known frame_shift_ins c.434_435 p.R146fs 0.000:0.001 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 127 0 0 111 29 20.7143 KIAA0907 0 genome.wustl.edu 37 1 155886421 155886422 + Frame_Shift_Ins INS - - CT TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 155886421 155886422 - CT INS KIAA0907 ENST00000368321 human ensembl 74_37 -1 known frame_shift_ins c.1548_1547 p.D517fs 1.000:1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 174 0 0 140 53 27.4611 PCP4L1 0 genome.wustl.edu 37 1 161254130 161254130 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 161254130 161254130 A - DEL PCP4L1 ENST00000504449 human ensembl 74_37 +1 known frame_shift_del c.66 p.A24fs 1.000 NULL NULL - no_errors PCP4L1 HGNC ENSG00000248485 113 0 0 107 53 33.125 SUCO 0 genome.wustl.edu 37 1 172558656 172558658 + In_Frame_Del DEL TAT TAT - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 172558656 172558658 TAT - DEL SUCO ENST00000608151 human ensembl 74_37 +1 known in_frame_del c.2871_2873 p.I959in_frame_del 0.001:0.002:0.001 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 36 0 0 34 19 35.8491 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 46 0 0 28 9 24.3243 ELF3 0 genome.wustl.edu 37 1 201980293 201980293 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 201980293 201980293 T - DEL ELF3 ENST00000359651 human ensembl 74_37 +1 known frame_shift_del c.29 p.F11fs 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 ELF3 HGNC ENSG00000163435 137 0 0 121 59 32.7778 EXTL1 0 genome.wustl.edu 37 1 26349532 26349533 + In_Frame_Ins INS - - CCT TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 26349532 26349533 - CCT INS EXTL1 ENST00000374280 human ensembl 74_37 +1 known in_frame_ins c.395_396 p.136in_frame_insL 1.000:1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 70 0 0 78 24 23.5294 TMEM222 0 genome.wustl.edu 37 1 27648737 27648737 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 27648737 27648737 C - DEL TMEM222 ENST00000374076 human ensembl 74_37 +1 known frame_shift_del c.49 p.P18fs 0.999 NULL pfam_DUF778 - no_errors TMEM222 HGNC ENSG00000186501 19 0 0 19 7 26.9231 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766006 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 31766006 31766006 A - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 29 0 0 16 9 36 COL16A1 0 genome.wustl.edu 37 1 32157042 32157043 + Frame_Shift_Ins INS - - G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 32157042 32157043 - G INS COL16A1 ENST00000271069 human ensembl 74_37 -1 known frame_shift_ins c.1374_1373 p.G459fs 1.000:1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 62 0 0 61 26 29.8851 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 80 0 0 61 24 28.2353 CCDC30 0 genome.wustl.edu 37 1 43055135 43055135 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 43055135 43055135 A - DEL CCDC30 ENST00000340612 human ensembl 74_37 +1 known frame_shift_del c.1364 p.R457fs 0.993 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 80 0 0 77 34 30.6306 TIE1 0 genome.wustl.edu 37 1 43779724 43779725 + RNA INS - - TG TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 43779724 43779725 - TG INS TIE1 ENST00000471187 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors TIE1 HGNC ENSG00000066056 18 0 0 20 7 25.9259 DMBX1 0 genome.wustl.edu 37 1 46976757 46976757 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 46976757 46976757 C - DEL DMBX1 ENST00000371956 human ensembl 74_37 +1 known frame_shift_del c.499 p.P168fs 0.752 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DMBX1 HGNC ENSG00000197587 175 0 0 211 14 6.22222 RERE 0 genome.wustl.edu 37 1 8415098 8415099 + RNA INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 8415098 8415099 - C INS RERE ENST00000467350 human ensembl 74_37 -1 known rna NULL NULL 0.961:0.793 - - - no_errors RERE HGNC ENSG00000142599 37 0 0 25 10 28.5714 SSX2IP 0 genome.wustl.edu 37 1 85135370 85135370 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 1 85135370 85135370 T - DEL SSX2IP ENST00000342203 human ensembl 74_37 -1 known frame_shift_del c.420 p.K140fs 0.998 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 109 0 0 110 12 9.83607 EBF3 0 genome.wustl.edu 37 10 131666125 131666125 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 131666125 131666125 C - DEL EBF3 ENST00000355311 human ensembl 74_37 -1 known frame_shift_del c.833 p.G278fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 142 0 0 71 39 35.4545 FRMD4A 0 genome.wustl.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 13696451 13696452 - G INS FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_ins c.3015_3014 p.S1006fs 0.992:1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 128 1 0.775194 125 49 28.1609 CSGALNACT2 0 genome.wustl.edu 37 10 43650701 43650701 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 43650701 43650701 C - DEL CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known frame_shift_del c.104 p.Q37fs 1.000 NULL pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 74 0 0 53 30 36.1446 JMJD1C 0 genome.wustl.edu 37 10 64966902 64966903 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 64966902 64966903 - T INS JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_ins c.4527_4526 p.N1509fs 1.000:0.985 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 127 0 0 98 36 26.8657 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 51 0 0 45 15 25 CWF19L2 0 genome.wustl.edu 37 11 107207380 107207381 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 107207380 107207381 - A INS CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_ins c.2262_2261 p.L754fs 1.000:1.000 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 18 0 0 7 12 63.1579 CADM1 0 genome.wustl.edu 37 11 115047097 115047097 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 115047097 115047097 A - DEL CADM1 ENST00000543375 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors CADM1 HGNC ENSG00000182985 47 0 0 39 16 29.0909 BCL9L 0 genome.wustl.edu 37 11 118770112 118770112 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 118770112 118770112 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.3512 p.P1171fs 0.983 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 19 0 0 21 9 30 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 267 0 0 213 96 31.068 MDK 0 genome.wustl.edu 37 11 46403891 46403892 + Frame_Shift_Ins INS - - G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 46403891 46403892 - G INS MDK ENST00000489525 human ensembl 74_37 +1 known frame_shift_ins c.124_125 p.P44fs 0.995:1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_PTN/MK_N_dom,pfam_PTN/MK_C_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors MDK HGNC ENSG00000110492 40 0 0 50 13 20.6349 CCKBR 0 genome.wustl.edu 37 11 6292451 6292451 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 6292451 6292451 T - DEL CCKBR ENST00000525462 human ensembl 74_37 +1 known frame_shift_del c.1229 p.L413fs 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 78 0 0 93 49 34.507 SF3B2 0 genome.wustl.edu 37 11 65828076 65828076 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 65828076 65828076 A - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.1653 p.M553fs 0.862 pfam_DUF382 pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 100 0 0 73 33 31.1321 ILK 0 genome.wustl.edu 37 11 6629292 6629293 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 6629292 6629293 - C INS ILK ENST00000299421 human ensembl 74_37 +1 known frame_shift_ins c.106_107 p.H39fs 1.000:1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 41 0 0 55 16 22.5352 PPP1CA 0 genome.wustl.edu 37 11 67165932 67165933 + RNA INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 67165932 67165933 - C INS PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 15 0 0 26 7 21.2121 IGHMBP2 0 genome.wustl.edu 37 11 68696803 68696803 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 68696803 68696803 C - DEL IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known frame_shift_del c.1213 p.T407fs 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 138 1 0.719424 118 46 28.0488 PIDD 0 genome.wustl.edu 37 11 801298 801299 + Frame_Shift_Ins INS - - G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 801298 801299 - G INS PIDD ENST00000347755 human ensembl 74_37 -1 known frame_shift_ins c.1550_1549 p.L517fs 1.000:1.000 pfam_ZU5,pfscan_ZU5 pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 55 0 0 65 20 23.5294 TAF1D 0 genome.wustl.edu 37 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 11 93471453 93471453 T - DEL TAF1D ENST00000323981 human ensembl 74_37 -1 known frame_shift_del c.281 p.K94fs 0.000 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 128 0 0 73 39 34.8214 GNPTAB 0 genome.wustl.edu 37 12 102179837 102179837 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 102179837 102179837 T - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.524 p.N175fs 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 45 0 0 53 8 13.1148 MRPS35 0 genome.wustl.edu 37 12 27908309 27908309 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 27908309 27908309 A - DEL MRPS35 ENST00000081029 human ensembl 74_37 +1 known frame_shift_del c.898 p.N301fs 1.000 NULL pfam_Ribosomal_S24/S35_mit - no_errors MRPS35 HGNC ENSG00000061794 106 0 0 104 47 31.1258 ALG10 0 genome.wustl.edu 37 12 34179403 34179404 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 34179403 34179404 - T INS ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_ins c.975_976 p.V327fs 0.003:0.069 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 117 0 0 72 34 32.0755 ENDOU 0 genome.wustl.edu 37 12 48106392 48106392 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 48106392 48106392 T - DEL ENDOU ENST00000229003 human ensembl 74_37 -1 known frame_shift_del c.756 p.G253fs 0.950 pfam_Endoribonuclease_XendoU pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 27 0 0 12 16 57.1429 NCAPD2 0 genome.wustl.edu 37 12 6631161 6631162 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 6631161 6631162 - T INS NCAPD2 ENST00000315579 human ensembl 74_37 +1 known frame_shift_ins c.1912_1913 p.G639fs 1.000:0.998 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 110 0 0 112 48 30 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 45 0 0 60 21 25.9259 WASF3 0 genome.wustl.edu 37 13 27255386 27255387 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 27255386 27255387 - C INS WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_ins c.912_913 p.P307fs 0.439:0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 116 1 0.854701 122 20 14.0845 NBEA 0 genome.wustl.edu 37 13 35733663 35733663 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 35733663 35733663 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.3355 p.N1121fs 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 40 0 0 45 15 25 LMO7 0 genome.wustl.edu 37 13 76432182 76432183 + RNA INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 13 76432182 76432183 - A INS LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.669:0.209 - - - no_errors LMO7 HGNC ENSG00000136153 22 0 0 14 12 46.1538 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 24 0 0 14 12 46.1538 FANCM 0 genome.wustl.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 45642288 45642289 CT - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.2191_2192 p.S734fs 0.999:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 59 0 0 50 29 36.7089 CDKL1 0 genome.wustl.edu 37 14 50809704 50809704 + RNA DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 50809704 50809704 C - DEL CDKL1 ENST00000356146 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CDKL1 HGNC ENSG00000100490 22 0 0 23 4 14.8148 KTN1 0 genome.wustl.edu 37 14 56146293 56146295 + In_Frame_Del DEL AGA AGA - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 56146293 56146295 AGA - DEL KTN1 ENST00000395309 human ensembl 74_37 +1 known in_frame_del c.3959_3961 p.K1321in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 59 0 0 46 20 30.303 PELI2 0 genome.wustl.edu 37 14 56757067 56757067 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 56757067 56757067 G - DEL PELI2 ENST00000267460 human ensembl 74_37 +1 known frame_shift_del c.589 p.G198fs 0.996 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 183 0 0 179 58 24.4726 VSX2 0 genome.wustl.edu 37 14 74706508 74706508 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 14 74706508 74706508 G - DEL VSX2 ENST00000261980 human ensembl 74_37 +1 known frame_shift_del c.244 p.L84fs 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors VSX2 HGNC ENSG00000119614 13 0 0 11 7 38.8889 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 164 0 0 121 50 29.2398 DYX1C1 0 genome.wustl.edu 37 15 55759241 55759242 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 55759241 55759242 - T INS DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_ins c.524_523 p.I175fs 0.002:0.001 superfamily_HSP20-like_chaperone pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 11 0 0 9 4 30.7692 UACA 0 genome.wustl.edu 37 15 70960355 70960356 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 70960355 70960356 - T INS UACA ENST00000322954 human ensembl 74_37 -1 known frame_shift_ins c.2668_2667 p.F889fs 0.000:0.000 superfamily_Prefoldin pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 19 0 0 22 8 26.6667 SYNM 0 genome.wustl.edu 37 15 99670282 99670283 + Frame_Shift_Ins INS - - GA TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 15 99670282 99670283 - GA INS SYNM ENST00000336292 human ensembl 74_37 +1 known frame_shift_ins c.1714_1715 p.E576fs 0.000:0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 79 0 0 88 31 26.0504 KNOP1 0 genome.wustl.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 19722724 19722724 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.536 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 185 0 0 161 58 26.484 MAZ 0 genome.wustl.edu 37 16 29818054 29818054 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 29818054 29818054 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.32 p.F14fs 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 32 0 0 31 15 32.6087 INO80E 0 genome.wustl.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 30007665 30007665 A - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.34 p.K14fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 18 0 0 3 7 70 CLDN9 0 genome.wustl.edu 37 16 3063917 3063918 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 3063917 3063918 - C INS CLDN9 ENST00000445369 human ensembl 74_37 +1 known frame_shift_ins c.554_555 p.P188fs 1.000:0.989 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 84 0 0 102 34 25 FBXL19 0 genome.wustl.edu 37 16 30939204 30939204 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 16 30939204 30939204 C - DEL FBXL19 ENST00000380310 human ensembl 74_37 +1 known frame_shift_del c.607 p.P205fs 0.973 NULL pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 11 0 0 6 6 50 SERPINF2 0 genome.wustl.edu 37 17 1657783 1657784 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 1657783 1657784 - C INS SERPINF2 ENST00000324015 human ensembl 74_37 +1 known frame_shift_ins c.1431_1432 p.M479fs 0.000:0.895 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 163 0 0 182 45 19.8238 ENSG00000265246 0 genome.wustl.edu 37 17 25565179 25565180 + RNA INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 25565179 25565180 - C INS ENSG00000265246 ENST00000581944 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-663N22.1 Clone_based_vega_gene ENSG00000265246 8 0 0 2 3 60 KSR1 0 genome.wustl.edu 37 17 25910016 25910016 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 25910016 25910016 C - DEL KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 28 0 0 39 19 32.7586 LIG3 0 genome.wustl.edu 37 17 33310485 33310486 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 33310485 33310486 - A INS LIG3 ENST00000378526 human ensembl 74_37 +1 known frame_shift_ins c.461_462 p.I157fs 0.957:1.000 pfam_Znf_PARP,pfscan_Znf_PARP pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 61 0 0 51 16 23.8806 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 54 0 0 36 9 20 AOC3 0 genome.wustl.edu 37 17 41003845 41003846 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 41003845 41003846 - C INS AOC3 ENST00000308423 human ensembl 74_37 +1 known frame_shift_ins c.485_486 p.L164fs 0.902:0.905 superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 117 0 0 105 35 25 ENSG00000233175 0 genome.wustl.edu 37 17 43317790 43317791 + RNA INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 43317790 43317791 - C INS ENSG00000233175 ENST00000393507 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 39 0 0 35 17 32.6923 MYBBP1A 0 genome.wustl.edu 37 17 4451274 4451276 + In_Frame_Del DEL GAG GAG - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 4451274 4451276 GAG - DEL MYBBP1A ENST00000381556 human ensembl 74_37 -1 known in_frame_del c.1803_1801 p.L601in_frame_del 0.943:1.000:1.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 8 0 0 6 3 33.3333 TOM1L1 0 genome.wustl.edu 37 17 52991190 52991191 + Frame_Shift_Del DEL CA CA - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 17 52991190 52991191 CA - DEL TOM1L1 ENST00000575882 human ensembl 74_37 +1 known frame_shift_del c.454_455 p.Q152fs 0.998:0.998 superfamily_ENTH_VHS,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 84 0 0 72 33 31.4286 RAB12 0 genome.wustl.edu 37 18 8609828 8609828 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 18 8609828 8609828 C - DEL RAB12 ENST00000329286 human ensembl 74_37 +1 known frame_shift_del c.103 p.R37fs 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB12 HGNC ENSG00000206418 32 0 0 34 4 10.5263 DOCK6 0 genome.wustl.edu 37 19 11356341 11356341 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 11356341 11356341 C - DEL DOCK6 ENST00000294618 human ensembl 74_37 -1 known frame_shift_del c.921 p.L308fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 32 0 0 23 13 36.1111 ZNF443 0 genome.wustl.edu 37 19 12542363 12542364 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 12542363 12542364 - A INS ZNF443 ENST00000301547 human ensembl 74_37 -1 known frame_shift_ins c.623_622 p.W208fs 0.001:0.000 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 ZNF443 HGNC ENSG00000180855 167 0 0 147 40 21.3904 ENSG00000248015 0 genome.wustl.edu 37 19 1395488 1395490 + RNA DEL CGC CGC - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 1395488 1395490 CGC - DEL ENSG00000248015 ENST00000501448 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.014:0.013 - - - no_errors AC005329.7 Clone_based_vega_gene ENSG00000248015 14 0 0 16 5 23.8095 CYP4F3 0 genome.wustl.edu 37 19 15760823 15760824 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 15760823 15760824 - C INS CYP4F3 ENST00000221307 human ensembl 74_37 +1 known frame_shift_ins c.748_749 p.D252fs 0.418:0.387 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 239 0 0 241 83 25.6173 PAK4 0 genome.wustl.edu 37 19 39668365 39668366 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 39668365 39668366 - C INS PAK4 ENST00000358301 human ensembl 74_37 +1 known frame_shift_ins c.1536_1537 p.Y514fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 113 0 0 39 37 48.6842 AXL 0 genome.wustl.edu 37 19 41765646 41765647 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 41765646 41765647 - C INS AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_ins c.2522_2523 p.T844fs 0.990:0.824 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 81 0 0 41 24 36.9231 FPR1 0 genome.wustl.edu 37 19 52250073 52250074 + Frame_Shift_Ins INS - - TG TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 52250073 52250074 - TG INS FPR1 ENST00000304748 human ensembl 74_37 -1 known frame_shift_ins c.175_174 p.V58fs 1.000:0.940 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 128 0 0 100 36 26.4706 NLRP7 0 genome.wustl.edu 37 19 55451098 55451098 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 55451098 55451098 G - DEL NLRP7 ENST00000446217 human ensembl 74_37 -1 known frame_shift_del c.1173 p.A392fs 0.393 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 NLRP7 HGNC ENSG00000167634 108 0 0 111 35 23.9726 NLRP2 0 genome.wustl.edu 37 19 55512184 55512184 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 55512184 55512184 A - DEL NLRP2 ENST00000448584 human ensembl 74_37 +1 known frame_shift_del c.3107 p.N1038fs 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 77 0 0 52 40 43.4783 SAFB 0 genome.wustl.edu 37 19 5667167 5667168 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 5667167 5667168 - C INS SAFB ENST00000588852 human ensembl 74_37 +1 known frame_shift_ins c.2445_2446 p.R817fs 0.062:0.275 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 32 0 0 33 7 17.5 MZF1 0 genome.wustl.edu 37 19 59081816 59081817 + Frame_Shift_Del DEL CA CA - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 59081816 59081817 CA - DEL MZF1 ENST00000215057 human ensembl 74_37 -1 known frame_shift_del c.475_474 p.E159fs 0.000:0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 88 0 0 211 40 15.9363 SNAPC2 0 genome.wustl.edu 37 19 7987519 7987519 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 19 7987519 7987519 C - DEL SNAPC2 ENST00000221573 human ensembl 74_37 +1 known frame_shift_del c.875 p.P294fs 0.077 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 115 1 0.862069 86 39 31.2 RANBP2 0 genome.wustl.edu 37 2 109381418 109381419 + Frame_Shift_Ins INS - - T TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 109381418 109381419 - T INS RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_ins c.4423_4424 p.S1477fs 0.784:0.765 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 79 0 0 54 20 27.027 ZC3H8 0 genome.wustl.edu 37 2 112994257 112994257 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 112994257 112994257 T - DEL ZC3H8 ENST00000272570 human ensembl 74_37 -1 known frame_shift_del c.386 p.N129fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 17 0 0 18 3 14.2857 PXDN 0 genome.wustl.edu 37 2 1653207 1653207 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 1653207 1653207 T - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2345 p.N782fs 0.138 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 173 1 0.574713 151 74 32.8889 NOSTRIN 0 genome.wustl.edu 37 2 169699563 169699563 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 169699563 169699563 A - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.566 p.N191fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 64 0 0 31 9 22.5 FKBP7 0 genome.wustl.edu 37 2 179330468 179330469 + RNA INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 179330468 179330469 - A INS FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 25 0 0 21 3 12.5 ABCA12 0 genome.wustl.edu 37 2 215843156 215843156 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 215843156 215843156 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.5012 p.N1671fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 26 0 0 18 15 45.4545 HDAC4 0 genome.wustl.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 240002823 240002823 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.2703 p.M902fs 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 48 0 0 55 21 27.6316 AGXT 0 genome.wustl.edu 37 2 241808308 241808308 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 241808308 241808308 C - DEL AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_del c.26 p.K12fs 0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 38 0 0 26 12 31.5789 ITSN2 0 genome.wustl.edu 37 2 24484521 24484521 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 24484521 24484521 T - DEL ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_del c.2446 p.M816fs 0.659 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 67 0 0 50 24 32.4324 GALNT14 0 genome.wustl.edu 37 2 31168647 31168648 + Splice_Site INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 31168647 31168648 - C INS GALNT14 ENST00000349752 human ensembl 74_37 -1 known splice_site_ins c.742+1_742+1 e7+1 1.000:1.000 - - - no_errors GALNT14 HGNC ENSG00000158089 89 0 0 85 30 26.087 LOC654342 0 genome.wustl.edu 37 2 91805598 91805599 + RNA INS - - GGA TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 91805598 91805599 - GGA INS LOC654342 ENST00000609777 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC027612.6 Clone_based_vega_gene ENSG00000143429 10 0 0 3 3 50 KIAA1211L 0 genome.wustl.edu 37 2 99448925 99448925 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 2 99448925 99448925 C - DEL KIAA1211L ENST00000397899 human ensembl 74_37 -1 known frame_shift_del c.426 p.L143fs 0.084 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 105 0 0 62 41 39.8058 DZANK1 0 genome.wustl.edu 37 20 18414186 18414187 + RNA DEL AA AA - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 18414186 18414187 AA - DEL DZANK1 ENST00000460891 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.025 - - - no_errors DZANK1 HGNC ENSG00000089091 11 0 0 9 10 52.6316 SSTR4 0 genome.wustl.edu 37 20 23016142 23016142 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 23016142 23016142 C - DEL SSTR4 ENST00000255008 human ensembl 74_37 +1 known frame_shift_del c.22 p.G11fs 0.000 prints_Somatstn_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 43 0 0 25 7 21.875 CHGB 0 genome.wustl.edu 37 20 5903413 5903414 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 5903413 5903414 - A INS CHGB ENST00000378961 human ensembl 74_37 +1 known frame_shift_ins c.623_624 p.E211fs 0.000:0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 87 0 0 108 9 7.69231 HRH3 0 genome.wustl.edu 37 20 60791510 60791510 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 20 60791510 60791510 C - DEL HRH3 ENST00000317393 human ensembl 74_37 -1 known frame_shift_del c.890 p.G297fs 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 8 0 0 4 2 33.3333 ITSN1 0 genome.wustl.edu 37 21 35174739 35174740 + Frame_Shift_Ins INS - - G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 35174739 35174740 - G INS ITSN1 ENST00000381318 human ensembl 74_37 +1 known frame_shift_ins c.2310_2311 p.E771fs 1.000:1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 245 0 0 175 80 31.3725 ITSN1 0 genome.wustl.edu 37 21 35260498 35260503 + In_Frame_Del DEL AAGACC AAGACC - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 AAGACC AAGACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 35260498 35260503 AAGACC - DEL ITSN1 ENST00000381285 human ensembl 74_37 +1 known in_frame_del c.5060_5065 p.DQ1688in_frame_del 1.000:0.999:1.000:1.000:1.000:1.000 superfamily_C2_dom,smart_C2_dom pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 94 0 0 77 20 20.6186 HLCS 0 genome.wustl.edu 37 21 38308767 38308768 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 38308767 38308768 - C INS HLCS ENST00000336648 human ensembl 74_37 -1 known frame_shift_ins c.978_977 p.E327fs 0.991:1.000 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 251 0 0 346 101 22.5951 DSCAM 0 genome.wustl.edu 37 21 41514615 41514615 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 21 41514615 41514615 G - DEL DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_del c.3276 p.E1093fs 0.013 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 217 0 0 201 46 18.6235 ZDHHC8 0 genome.wustl.edu 37 22 20130375 20130375 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 20130375 20130375 G - DEL ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known frame_shift_del c.1222 p.G409fs 0.010 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 45 0 0 42 11 20.7547 MTMR3 0 genome.wustl.edu 37 22 30414048 30414048 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 30414048 30414048 C - DEL MTMR3 ENST00000401950 human ensembl 74_37 +1 known frame_shift_del c.1807 p.L605fs 0.001 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 93 0 0 114 39 25.4902 MB 0 genome.wustl.edu 37 22 36013256 36013257 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 22 36013256 36013257 - C INS MB ENST00000359787 human ensembl 74_37 -1 known frame_shift_ins c.49_48 p.K16fs 1.000:1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin - no_errors MB HGNC ENSG00000198125 146 0 0 121 35 22.4359 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 90 0 0 127 7 5.22388 PDIA5 0 genome.wustl.edu 37 3 122869088 122869089 + Frame_Shift_Ins INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 122869088 122869089 - C INS PDIA5 ENST00000316218 human ensembl 74_37 +1 known frame_shift_ins c.1150_1151 p.P387fs 1.000:1.000 NULL pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 118 0 0 113 45 28.481 MBNL1 0 genome.wustl.edu 37 3 152017898 152017898 + RNA DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 152017898 152017898 T - DEL MBNL1 ENST00000461436 human ensembl 74_37 +1 putative rna NULL NULL 0.026 - - - no_errors MBNL1 HGNC ENSG00000152601 21 0 0 15 4 21.0526 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 44 0 0 27 21 43.75 COL7A1 0 genome.wustl.edu 37 3 48616694 48616694 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 48616694 48616694 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.5324 p.P1775fs 0.798 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 104 0 0 41 33 44.5946 STAB1 0 genome.wustl.edu 37 3 52551026 52551026 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 52551026 52551026 G - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.4390 p.G1465fs 0.999 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 110 0 0 56 29 34.1176 HTR1F 0 genome.wustl.edu 37 3 88040823 88040823 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 88040823 88040823 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.924 p.F310fs 0.753 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 32 0 0 26 19 42.2222 MTMR14 0 genome.wustl.edu 37 3 9739422 9739423 + Frame_Shift_Del DEL CT CT - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 3 9739422 9739423 CT - DEL MTMR14 ENST00000296003 human ensembl 74_37 +1 known frame_shift_del c.1641_1642 p.S550fs 1.000:1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 326 0 0 365 93 20.3057 KIAA1109 0 genome.wustl.edu 37 4 123140538 123140547 + Frame_Shift_Del DEL AGGTTATCTC AGGTTATCTC - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 AGGTTATCTC AGGTTATCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 123140538 123140547 AGGTTATCTC - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.2291_2300 p.I766fs 1.000:0.797:0.784:0.734:0.550:0.541:1.000:1.000:1.000:1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 147 0 0 113 32 22.069 TBC1D9 0 genome.wustl.edu 37 4 141592064 141592064 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 141592064 141592064 T - DEL TBC1D9 ENST00000442267 human ensembl 74_37 -1 known frame_shift_del c.1076 p.K359fs 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 144 0 0 141 73 34.1121 PCGF3 0 genome.wustl.edu 37 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 728799 728799 C - DEL PCGF3 ENST00000362003 human ensembl 74_37 +1 known frame_shift_del c.189 p.L65fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 50 0 0 49 17 25.7576 CXCL5 0 genome.wustl.edu 37 4 74864215 74864217 + In_Frame_Del DEL CAG CAG - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 74864215 74864217 CAG - DEL CXCL5 ENST00000296027 human ensembl 74_37 -1 known in_frame_del c.84_82 p.L28in_frame_del 0.072:0.215:0.363 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL5 HGNC ENSG00000163735 36 0 0 34 3 8.10811 NKX6-1 0 genome.wustl.edu 37 4 85419145 85419145 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 85419145 85419145 C - DEL NKX6-1 ENST00000295886 human ensembl 74_37 -1 known frame_shift_del c.237 p.L80fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 20 0 0 17 9 34.6154 PKD2 0 genome.wustl.edu 37 4 88986558 88986559 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 4 88986558 88986559 - A INS PKD2 ENST00000237596 human ensembl 74_37 +1 known frame_shift_ins c.2151_2152 p.N719fs 0.989:1.000 prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 130 0 0 131 25 16.0256 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 67 0 0 64 22 25.5814 GCNT4 0 genome.wustl.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 74324982 74324983 - G INS GCNT4 ENST00000322348 human ensembl 74_37 -1 known frame_shift_ins c.881_880 p.H294fs 0.920:0.913 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 63 0 0 57 9 13.6364 POU5F2 0 genome.wustl.edu 37 5 93076713 93076713 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 5 93076713 93076713 T - DEL POU5F2 ENST00000510627 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 74 0 0 60 23 27.7108 ZBTB24 0 genome.wustl.edu 37 6 109787369 109787370 + In_Frame_Ins INS - - GTAAGATTA TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 109787369 109787370 - GTAAGATTA INS ZBTB24 ENST00000230122 human ensembl 74_37 -1 known in_frame_ins c.1779_1778 p.594in_frame_insNLT 0.991:1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 118 0 0 69 15 17.8571 ELOVL2 0 genome.wustl.edu 37 6 10995330 10995330 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 10995330 10995330 T - DEL ELOVL2 ENST00000354666 human ensembl 74_37 -1 known frame_shift_del c.415 p.T139fs 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 103 0 0 35 33 48.5294 TXLNB 0 genome.wustl.edu 37 6 139564084 139564084 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 139564084 139564084 G - DEL TXLNB ENST00000358430 human ensembl 74_37 -1 known frame_shift_del c.1634 p.P545fs 0.001 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 119 0 0 113 53 31.9277 SHPRH 0 genome.wustl.edu 37 6 146256569 146256570 + Frame_Shift_Ins INS - - A TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 146256569 146256570 - A INS SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_ins c.2578_2577 p.G859fs 1.000:0.997 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 43 0 0 25 16 39.0244 TULP4 0 genome.wustl.edu 37 6 158923160 158923160 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 158923160 158923160 C - DEL TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_del c.2465 p.Q824fs 0.857 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 42 0 0 26 19 42.2222 BAG6 0 genome.wustl.edu 37 6 31608571 31608571 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 31608571 31608571 G - DEL BAG6 ENST00000404765 human ensembl 74_37 -1 known frame_shift_del c.2932 p.Q978fs 0.996 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 121 0 0 49 39 44.3182 HLA-DRA 0 genome.wustl.edu 37 6 32411022 32411024 + In_Frame_Del DEL TCA TCA - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 32411022 32411024 TCA - DEL HLA-DRA ENST00000395388 human ensembl 74_37 +1 known in_frame_del c.389_391 p.I131in_frame_del 1.000:0.998:1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRA HGNC ENSG00000204287 94 0 0 29 30 50.8475 RING1 0 genome.wustl.edu 37 6 33178990 33178990 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 33178990 33178990 G - DEL RING1 ENST00000374656 human ensembl 74_37 +1 known frame_shift_del c.511 p.E173fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 207 1 0.480769 77 80 50.9554 TAPBP 0 genome.wustl.edu 37 6 33273073 33273073 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 6 33273073 33273073 G - DEL TAPBP ENST00000426633 human ensembl 74_37 -1 known frame_shift_del c.561 p.T188fs 0.055 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 83 0 0 41 20 32.7869 JAZF1 0 genome.wustl.edu 37 7 27934891 27934891 + Frame_Shift_Del DEL G G - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 27934891 27934891 G - DEL JAZF1 ENST00000283928 human ensembl 74_37 -1 known frame_shift_del c.333 p.V112fs 0.015 NULL smart_Znf_C2H2-like - no_errors JAZF1 HGNC ENSG00000153814 52 0 0 65 28 30.1075 GPR141 0 genome.wustl.edu 37 7 37780680 37780680 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 37780680 37780680 T - DEL GPR141 ENST00000334425 human ensembl 74_37 +1 known frame_shift_del c.685 p.F230fs 0.054 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 129 0 0 122 60 32.967 GPC2 0 genome.wustl.edu 37 7 99767927 99767927 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 7 99767927 99767927 C - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.1666 p.A556fs 0.006 NULL pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 25 0 0 15 7 31.8182 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 90 0 0 122 11 8.27068 OPLAH 0 genome.wustl.edu 37 8 145109481 145109481 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 145109481 145109481 C - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.2669 p.G890fs 0.999 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 31 0 0 43 15 25.8621 KCTD9 0 genome.wustl.edu 37 8 25297195 25297195 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 25297195 25297195 A - DEL KCTD9 ENST00000518067 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors KCTD9 HGNC ENSG00000104756 61 0 0 65 19 22.619 PTK2B 0 genome.wustl.edu 37 8 27308396 27308398 + In_Frame_Del DEL AGG AGG - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 27308396 27308398 AGG - DEL PTK2B ENST00000346049 human ensembl 74_37 +1 known in_frame_del c.2471_2473 p.E826in_frame_del 1.000:1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 70 0 0 54 23 29.8701 KIF13B 0 genome.wustl.edu 37 8 28929687 28929687 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 28929687 28929687 C - DEL KIF13B ENST00000524189 human ensembl 74_37 -1 known frame_shift_del c.4668 p.S1559fs 0.053 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 17 0 0 19 8 29.6296 RGS20 0 genome.wustl.edu 37 8 54792097 54792097 + Frame_Shift_Del DEL C C - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 8 54792097 54792097 C - DEL RGS20 ENST00000297313 human ensembl 74_37 +1 known frame_shift_del c.445 p.H151fs 0.001 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 19 0 0 9 7 43.75 ANKS6 0 genome.wustl.edu 37 9 101544793 101544793 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 101544793 101544793 T - DEL ANKS6 ENST00000375018 human ensembl 74_37 -1 known frame_shift_del c.1175 p.N392fs 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 83 0 0 61 25 29.0698 RBM18 0 genome.wustl.edu 37 9 125004207 125004207 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 125004207 125004207 T - DEL RBM18 ENST00000417201 human ensembl 74_37 -1 known frame_shift_del c.529 p.R177fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM18 HGNC ENSG00000119446 82 0 0 68 29 29.8969 ENSG00000265194 0 genome.wustl.edu 37 9 21861903 21861903 + RNA DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 21861903 21861903 T - DEL ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 33 0 0 15 32 68.0851 VCP 0 genome.wustl.edu 37 9 35059647 35059647 + Frame_Shift_Del DEL T T - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 35059647 35059647 T - DEL VCP ENST00000358901 human ensembl 74_37 -1 known frame_shift_del c.1847 p.N616fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 123 0 0 116 54 31.7647 UHRF2 0 genome.wustl.edu 37 9 6499821 6499822 + RNA INS - - C TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f 9 6499821 6499822 - C INS UHRF2 ENST00000492853 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors UHRF2 HGNC ENSG00000147854 39 0 0 44 13 22.807 FRMPD3 0 genome.wustl.edu 37 X 106841057 106841059 + In_Frame_Del DEL GAG GAG - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 106841057 106841059 GAG - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.2047_2049 p.E686in_frame_del 1.000:1.000:1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 12 0 0 16 2 11.1111 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 75 0 0 29 56 65.8824 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-D7-A4YY-01A-11D-A25D-08 TCGA-D7-A4YY-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 607d041c-7219-4cd1-8276-0d3031601b3c dc39cfd8-eced-4a56-b080-5d8fd03a622f X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 20 0 0 23 4 14.8148